By Valaree DonFrancesco on May 24, 2022
May 24, Hartford, CT – Yesterday, Governor Ned Lamont signed House Bill 5500 (HB 5500) into law which includes provisions to establish a permanent Rare Disease Advisory Council (RDAC) in the state of Connecticut. Connecticut established a temporary rare disease task force in 2017 that concluded its work in 2019, but the Rare Disease Advisory Council created Read more >
By Valaree DonFrancesco on April 22, 2022
On Monday, April 18, seven members of NORD’s Running for Rare team stretched their legs and put their sneakers to the pavement to take on the Boston Marathon! During the race, NORD staff members Jaime Pacheco, Ed Neilan, Julie Manus, Amanda Thomas and 36 individuals were present and could be heard loudly from the cheer Read more >
By Valaree DonFrancesco on April 20, 2022
Today on NORDpod, Matthew Zachary welcomes Phillip Bright, a senior at The University of Kentucky diagnosed with Hereditary Hemorrhagic Telangiectasia (HHT) at a very young age and has lived an accelerated life facing this rare condition. HHT is a congenital dominant hereditary disorder in which some blood vessels do not develop properly. Phil subsequently lived Read more >
By Valaree DonFrancesco on April 19, 2022
Clayton, MO, April 19, 2022 —Today, April 19, 2022, The Snow Foundation for Wolfram Syndrome Research and the National Organization for Rare Disorders, Inc. launched the largest-ever study to research Wolfram syndrome, a disease that causes diabetes insipidus, diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders. Wolfram syndrome currently has Read more >
By Valaree DonFrancesco on April 13, 2022
Dr. Adrienne Hammill is Research Director of the Hemangioma & Vascular Malformation Program and Director of the HHT Center of Excellence at Cincinnati Children’s Hospital. Her path to becoming a physician started when she was eight years old when she read an article about retinoblastoma, which is cancer with a genetic cause. She decided then Read more >
By Valaree DonFrancesco on March 30, 2022
Kari Luther Rosbeck is the President & Chief Executive Officer of the TSC Alliance, a nonprofit whose mission is to find a cure for Tuberous Sclerosis Complex (TSC) while improving the lives of those affected. Kari began her life as a Theater nerd and started her own company in NYC after graduating from SUNY Albany. Read more >
By Valaree DonFrancesco on March 16, 2022
Chris Anselmo is the Director of Market Intelligence at the Muscular Dystrophy Association but he never envisioned becoming an advocate for a disease he never thought he’d get. After a car crash found him in the hospital on the receiving end of a random diagnosis of having extremely high creatine kinase levels, he was soon Read more >
By Valaree DonFrancesco on March 11, 2022
Accelerated approval is critical to providing access to new, safe, and effective drugs to patients with serious and life-threatening diseases and conditions for which there are no meaningful alternatives. Learn more about the history of accelerated approval, how its use has benefited rare disease patients, and recommendations for strengthening the accelerated approval pathway by clicking Read more >
By Valaree DonFrancesco on February 25, 2022
Welcome to Season Four of NORDpod, the voice of rare disease. Kicking off 2022, and in recognition of Rare Disease Day, we are proud to welcome actor and social media influencer Adam Rose. Adam has amassed a considerable fan base by creating relatable, entertaining, and insightful video segments on TikTok, often sporting a blue cardigan. Read more >
By Valaree DonFrancesco on December 22, 2021
On the show today, we welcome Dr. Edward Neilan, NORD’s own Chief Medical and Scientific Officer. In this role, Ed oversees medical and research initiatives, including the Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP) program that NORD established in partnership with FDA and the Critical Path Institute (C-Path) He carries a unique perspective as Read more >
By Valaree DonFrancesco on December 8, 2021
Today’s extra-long, extra-special BONUS episode is brought to you from the 2021 NORD Breakthrough Summit. Every year, NORD hosts its flagship conference in October to discuss what’s new, relevant, and on the horizon in the rare disease space. The session we’re featuring is “Designing Trials for Inclusivity, Equity, and Engagement,” The discussion addresses health care Read more >
By Valaree DonFrancesco on December 8, 2021
Today’s extra-long, extra-special BONUS episode is brought to you from the 2021 NORD Breakthrough Summit. Every year, NORD hosts its flagship conference in October to discuss what’s new, relevant, and on the horizon in the rare disease space. The session we’re featuring is “Designing Trials for Inclusivity, Equity, and Engagement,” The discussion addresses health care Read more >
By Valaree DonFrancesco on November 24, 2021
Chris Brannigan, a major in the British Army, took off his boots for a 1,200-mile barefoot walk down the eastern seaboard of the United States in an effort to raise funds for the creation of a gene therapy treatment that could help patients like his daughter Hasti, battling Cornelia de Lange Syndrome (CdLS ). The Read more >
By Valaree DonFrancesco on November 18, 2021
Reading, PA, November 18, 2021—Today, the Gorlin Syndrome Alliance (GSA) and the National Organization for Rare Disorders (NORD)® launched the largest-ever study to research Gorlin syndrome, a rare disease that currently has no cure. The new study, the Gorlin Syndrome Alliance Patient Registry (GSAPR), creates a platform for patients around the world to share information Read more >
By Valaree DonFrancesco on November 10, 2021
On the show today, Kam Redlawsk is a designer, illustrator, writer, and disability advocate. After five years of being consistently misdiagnosed and not taken seriously, she was diagnosed correctly with a condition called GNE Myopathy, which is a very, very rare degenerative muscle wasting disorder. There’s so much to unpack about her that can only Read more >
By Valaree DonFrancesco on November 10, 2021
On the show today, Kam Redlawsk is a designer, illustrator, writer, and disability advocate. After five years of being consistently misdiagnosed and not taken seriously, she was diagnosed correctly with a condition called GNE Myopathy, which is a very, very rare degenerative muscle wasting disorder. There’s so much to unpack about her that can only Read more >
By Valaree DonFrancesco on October 29, 2021
NORD urges Congress to remove harmful provision which would gut a key incentive from the 1983 ODA
By Valaree DonFrancesco on October 27, 2021
Joining me today is Lewis Freese, an incredible young man fresh off the heels of being diagnosed with a rare disease during the pandemic, no less. (I mean, not that there’s ever a good time for this to happen but COME ON!) The condition is called IGA Vasculitis and typically affects 2 in 100,000 children Read more >
By Valaree DonFrancesco on October 13, 2021
On the show today, Aprill Lane is a mother of five and rare disease and infertility advocate — and you do not want to mess with her. She and her husband, Brian, tried to have a baby on their own for 4½ years until they were diagnosed with unexplained infertility. Endless cycles and tens of thousands Read more >
By Valaree DonFrancesco on September 29, 2021
In celebration and recognition of Rare Cancer Day, I had the pleasure of speaking with Dan “Dry Dock” Shockley. Dan is a retired Navy, Operation Desert Storm; Enduring and Iraqi Freedom veteran and hereditary colon cancer warrior. After his initial colonoscopy, he was recommended for a genetic panel, passed along to specialists, was diagnosed and Read more >
By Valaree DonFrancesco on September 15, 2021
Kicking off Season 3 of NORDpod, I am joined by Karina Sturm, a disabled journalist, blogger, author, and filmmaker who tries to connect with chronically ill people around the world and spread the word about Ehlers-Danios Syndrome and other chronic illnesses. From giving up her job as a research associate in 2010 to cashing out Read more >
By Valaree DonFrancesco on September 1, 2021
Every September, we celebrate and raise awareness for newborn screening (NBS) in the United States and the impact it has had on millions of families. Each year, approximately four million babies are screened for serious disorders that are present at birth. Of those four million, screening identifies over 12,000 infants annually with a condition that, if left undiagnosed and Read more >
By Valaree DonFrancesco on September 1, 2021
TUCSON, Ariz. and WASHINGTON, September 1, 2021 — For two years, Critical Path Institute (C-Path), the National Organization for Rare Disorders (NORD) and the U.S. Food and Drug Administration (FDA) have joined with others throughout the rare disease community to create a novel, best-in-class platform to accelerate rare disease treatment innovation. On Tuesday, September 14, 10 a.m. Read more >
By Valaree DonFrancesco on July 14, 2021
On the show today, Nick Kirchhof, a volunteer state ambassador in Colorado and member of the newly established Policy Steering Committee for NORD’s Rare Action Network. Nick and his wife were welcomed into the club no one asks to join when their daughter Hayden was diagnosed with an extremely rare condition known as Cystinosis. In Read more >
By Valaree DonFrancesco on June 30, 2021
On the show today, it’s all about Rare Disease Advisory Councils – or RDACs, for short. RDACs provide a platform for the rare community to have a stronger voice in state government. Joining us is NORD Director of Policy Heidi Ross, your one-stop human shop to understanding what these councils are, and how you – Read more >
By Valaree DonFrancesco on June 17, 2021
Washington, DC, June 17, 2021—The following statement was issued by Peter L. Saltonstall, President and CEO of the National Organization for Rare Disorders (NORD) regarding today’s US Supreme Court decision in California v. Texas: “Today’s ruling is a triumph for all patients with a rare disorder and their loved ones,” said Mr. Saltonstall. “Prior to Read more >
By Valaree DonFrancesco on June 11, 2021
Ray Stevens, rare disease researcher, advocate, and adventure seeker, has concluded his Himalayas and Mount Everest trek to rare awareness for NORD and our community. Ray made it just past 22,000 feet of elevation, which marks camp two of four before reaching the mountain’s summit. According to Ray, climbing Everest was an amazing lesson about how hard it is to live without enough oxygen. While traveling home, he reflected on his journey by saying, Read more >
By Valaree DonFrancesco on June 9, 2021
Today on NORDpod, we welcome back Lesli Nordstrom, Director of Marketing and communications at NORD. As returning champion to the show, she’s back to get real about the rare disease community with reflection on the past 18 months. The pandemic’s impact cannot be understated. Millions of lives have been uprooted as we mourn the deaths Read more >
By Valaree DonFrancesco on May 27, 2021
Quincy, MA and Danbury, CT, May 27, 2021—The National Organization for Rare Disorders (NORD®), the leading patient advocacy organization dedicated to the identification, treatment and cure of rare diseases, announced the appointment of Edward Neilan, MD, PhD, to the new position of Chief Medical and Scientific Officer. Dr. Neilan, an internationally recognized physician-scientist and rare genetic Read more >
By Valaree DonFrancesco on May 26, 2021
On the show today, Matthew Zachary welcomes Jo-Ann D’Angelo, a Parry-Romberg syndrome patient and the Founder of The Parry-Romberg Syndrome Foundation. PRS, as it is known in acronym land, is an extremely rare facial disfigurement that impacts the bone, muscle, and dental only on one side of the face. There is no cure, and the Read more >
By Valaree DonFrancesco on May 18, 2021
Washington, DC, May 18, 2021—The National Organization for Rare Disorders (NORD®) announced that during a recent Board of Directors meeting, Kay Holcombe was elected as Chair and Dennis Jackman joined as a new Board member. Each provides a dynamic and strong track record of leadership in public and private health sectors and in biotech innovation Read more >
By Valaree DonFrancesco on May 12, 2021
On the show today: Jeff Goldstein, President, and Founder of the Lung Transplant Foundation, a nonprofit organization that provides education and emotional support for transplant recipients and their caregivers and raises money for lung transplant research. Jeff was diagnosed in his mid-40s in peak health with Idiopathic Pulmonary Fibrosis — lots of syllables with a Read more >
By Valaree DonFrancesco on May 6, 2021
Bethesda, MD, May 6, 2021—The Aplastic Anemia and MDS International Foundation (AAMDSIF) and the National Organization for Rare Disorders (NORD)® today launched the largest-ever study to research Paroxysmal Nocturnal Hemoglobinuria (PNH), a rare bone marrow failure disease . PNH is characterized by the destruction of red blood cells, blood clots and impaired bone marrow function. Read more >
By Valaree DonFrancesco on April 29, 2021
The road to a correct rare disease diagnosis is far too long. This Undiagnosed Day, please share this infographic with your community and if you, or someone you know, is in need of information or resources to assist you on your diagnosis journey, please visit our Undiagnosed Rare Disease Patients webpage.
By Valaree DonFrancesco on April 28, 2021
On the show today, we are talking all things adolescent and young adult (AYA) rare disease. Back when I was CEO at Stupid Cancer, we’d always say that AYA cancer was not better or worse, just different. And the same holds true for this community. Joining me is Seth Rotberg, a very vocal leader in Read more >
By Valaree DonFrancesco on April 22, 2021
Danbury, CT and Austin, TX – April 22, 2021 – CDISC and the National Organization for Rare Disorders (NORD®) have announced a partnership to develop global data standards for rare diseases. The data standards will be released in a Therapeutic Area User Guide that will be available at no cost on the CDISC website for researchers Read more >
By Valaree DonFrancesco on April 14, 2021
On the show today: Vanessa Boulanger is Director of Research at NORD and heads up — you guessed it — NORD’s research department. What kind of research, you ask? Well, I’m glad you asked. We’ll be discussing NORD’s I AM RARE platform, a patient registry that, with the rare disease community’s help, allows for a Read more >
By Valaree DonFrancesco on April 7, 2021
In 2001, Ray was inspired by a family he met whose daughter was diagnosed with phenylketonuria (PKU). He translated his academic knowledge into clinical treatments and was able to help create two new medicines for this devastating rare disease. Then in 2007, his daughter, who was four years old at the time, was diagnosed with Read more >
By Valaree DonFrancesco on March 31, 2021
Dr. Rachel Bailey joins me today on the program. She is an Assistant Professor of the Center for Alzheimer’s and Neurodegenerative Diseases and Pediatrics at UT Southwestern Medical Center. Today’s episode is all about those two magic words, no not “COVID Vaccine — those indeed are magic words — no, I’m referring to “Gene Therapy.” Read more >
By Valaree DonFrancesco on March 23, 2021
To help rare disease community members who are having trouble acquiring quality, vetted PPE, the National Organization for Rare Disorders (NORD)® is collaborating with the nonprofit Project N95 so you can purchase N95 respirators (certified by CDC and NIOSH), nitrile powder free gloves, Level 1 AAMI isolation gowns, ASTM Level 1 and Level 3 surgical masks, hard surface disinfectant and disposable face shields Read more >
By Valaree DonFrancesco on March 17, 2021
On the show today — we’ve got a big one or you — Yann Le Cam, Co-Founder and Chief Executive Officer of EURODIS and Rare Diseases International — and “enraged rare disease advocate”, as the media have hailed him. We only recently celebrated Rare Disease Day 2021 on February 28th so we thank all of Read more >
By Valaree DonFrancesco on March 16, 2021
Washington, DC, March 16, 2021—The National Organization for Rare Disorders (NORD)®, together with KrabbeConnect, The Legacy of Angels Foundation, Partners for Krabbe Research, Hunter’s Hope and with additional support from Gain Therapeutics, Magneta Therapeutics, PassageBio and Neurogene, has published the “Voice of the Patient” report sharing the stories of patients and families impacted by Krabbe Read more >
By Valaree DonFrancesco on March 3, 2021
It is Season Two of NORDPod, and we’re kicking it off in style with a “Last Year Tonight”-themed episode with NORD’s President and CEO, Peter Saltonstall, from his undisclosed bunker in New England. 2020 was not the best of times, but it was not the worst of times either, as you’ll hear from our conversation Read more >
By Valaree DonFrancesco on March 2, 2021
Washington, DC — March 2, 2021 More than 25 million Americans living with rare diseases face many challenges, including finding information about their condition, accessing quality health care, and paying for treatments. With help from the National Organization for Rare Disorders (NORDⓇ), the rare community is assisted with access, resources and advocacy. But what happens when someone with a rare disease has an accident or medical emergency? Today, NORD and MedicAlert Foundation announced Read more >
By Valaree DonFrancesco on February 28, 2021
Actor, comedian and director Bob Saget invites you to Show Your Stripes today! While largely recognized for his role as Danny Tanner on the hit sitcom “Full House,” his personal connection to the rare community is less well known. Bob lost his sister to scleroderma and has participated in efforts to raise awareness for the rare disease for a number of years. Join him and NORD in wearing stripes today! Don’t forget to take a Read more >
By Valaree DonFrancesco on February 26, 2021
I am the parent of a four-year-old girl named Nola. She was diagnosed with distal 18q deletion at the age of 18 months. Caring for a child with a rare disease affects every aspect of daily life. I find myself having to be more attentive and always “on” when I am with Nola. My career had to be adjusted to allow Read more >
By Valaree DonFrancesco on February 26, 2021
Our brave beauty’s name is Valencia Bella. Together, her father and I raise her to be strong and courageous. She was born with amniotic band syndrome where the cords were wrapped around her legs so tight that it caused extensive nerve damage and near amputation. We have been blessed enough that she was able to keep her legs, but she is Read more >
By Valaree DonFrancesco on February 26, 2021
PharmaBoardroom, an international pharmaceutical industry media outlet providing industry trends, news and reports geared to senior professionals, recently interviewed Pamela Gavin on the importance of health equity and what NORD is doing towards achieving equity for the rare community in the United States. The interview can be read in its entirety here.
By Valaree DonFrancesco on February 25, 2021
The ALS Association’s podcast, Connecting ALS, interviewed NORD Director of Membership Debbie Drell for a special Rare Disease Day episode, streaming now. The conversation touched on the origins of Rare Disease Day, storytelling, NORD’s “Show Your Stripes” campaign, and how the organization’s patient advocacy work has continued during the pandemic. https://www.connectingals.org/episodes/showing-our-stripes-for-rare-disease-day #NORDintheNews
By Valaree DonFrancesco on February 24, 2021
Rare Disease Day is important to me because I live with multiple rare diseases: narcolepsy type 2 and fibromyalgia, and I also suffer from chronic migraines. I had symptoms of narcolepsy for twenty years before I was finally diagnosed and was misdiagnosed with several conditions before this as well. I have done a lot of research on narcolepsy and other rare diseases this past year and I have realized how people outside of Read more >
By Valaree DonFrancesco on February 24, 2021
This morning, a special Rare Disease Day segment of Behind the Mystery, the recurring rare disease series on Lifetime Television’s award-winning morning show The Balancing Act, aired at 7:30am ET. The impactful segment featured NORD’s Director of Strategic Planning, Lisa Sarfaty, sharing facts about rare disease and information on how to get involved with Rare Read more >
By Valaree DonFrancesco on February 23, 2021
Washington, DC, February 23, 2021 — Today the National Organization for Rare Disorders (NORD®) announced this year’s Rare Impact Award honorees. These outstanding individuals, organizations and industry innovators will be honored for their exceptional work benefiting the rare disease community in a virtual event streaming on June 28, 2021 at 7:00pm ET. The Rare Impact Read more >
By Valaree DonFrancesco on February 22, 2021
I am a patient diagnosed with autoimmune neutropenia and AA amyloidosis (renal) which affects my kidneys. My symptoms include fatigue, shortness of breath, low white blood cells, anemia and stress. I have also been suspected of Behcet’s disease, but doctors have not confirmed this diagnosis. I also often have mouth sores and occasional genital sores. Rare Disease Day is important to raise the world’s awareness about rare conditions which are really not rare. I would like the public to know that patients with long–term, chronic diseases undergo many blood Read more >
By Valaree DonFrancesco on February 22, 2021
I was diagnosed with stiff person syndrome (SPS) on a Monday night in October of 2017. The impact of my condition on my life has been tremendous. My symptoms started after I lost my former husband to suicide in 2014. My kids were eleven and thirteen at the time. The stress was unimaginable and the trigger for my disease. In two years, Read more >
By Valaree DonFrancesco on February 22, 2021
I faced lot of challenges both socially and academically throughout my life. However, with a lot of love from my mother and godly mentors, I was able to overcome many of those struggles. I graduated with four science degrees in community college and taught at a private school as a preschool teacher. These achievements were Read more >
By Valaree DonFrancesco on February 22, 2021
Tristan Lee, a 37-year-old Pennsylvania man who has lived with sickle cell disease since birth, is a patient advocate with Sickle Cell Disease Association of America, a NORD member organization. Today, Tristan shares his personal story for Rare Disease Day with WebMD, with information about NORD noted at the end of the article. Read the Read more >
By Valaree DonFrancesco on February 19, 2021
Sometimes a helping hand is most needed when an unexpected emergency arises. NORD is committed to supporting rare disease patients and families and offers several programs to assist them in times of crisis. NORD’s Hurricane and Natural Disaster Emergency Relief Fund provides financial assistance to those who are diagnosed with a rare disease and are impacted by natural disasters—including the severe weather and snowstorms that have impacted parts of the US most recently. This Read more >
By Valaree DonFrancesco on February 19, 2021
At the Head of the Herd is… Chandra Clark, Executive Director, VHL Alliance. Today she shares her passion for incorporating diversity, equity, and inclusion within the rare disease space. Prior to joining VHL Alliance, how did you get exposure to diversity, equity and inclusion (DEI)? How do those experiences carry over to your work with the Read more >
By Valaree DonFrancesco on February 12, 2021
I am a patient who has lived with systemic scleroderma for over nineteen years, having been diagnosed as a teenager. Rare Disease Day is a day when I get to feel like I am making a difference by telling my story and educating the world about how this disease has changed my entire life. For the bad and the good. This day also allows Read more >
By Valaree DonFrancesco on February 12, 2021
I was diagnosed with primary immunodeficiency (PI) when I was four years old. The adversities I have faced with rare disease started even before I received a life-saving diagnosis and are still something I struggle with today. In studying to be a health care professional, it has been a journey to bring to light the adversities patients with rare diseases face, as well as making health professionals aware of the zebra and its significance, Read more >
By Valaree DonFrancesco on February 10, 2021
In “Pandemic Won’t Stop Rare Disease Day on Feb. 28,” an article by BioNews Service’s Mary Chapman that ran on 2.10 and is being picked up by 25+ of BioNews’ rare disease community-specific newsletters, NORD and our Rare Disease Day offerings are featured prominently, including: Quotes from Peter L. Saltonstall Information on the Show Your Read more >
By Valaree DonFrancesco on February 2, 2021
In its February 2021 issue, PharmaVOICE features NORD in its Rare Disease Showcase column. In “Rare Disease: Tackling the Barriers to Rare Disease Treatment,” NORD’s Undiagnosed Patients Registry and the COVID-19 Community Survey Report are referenced. In “The State of Rare Disease, Diagnosis, and Treatment,” the Barriers to Rare Disease Diagnosis, Care and Treatment in Read more >
By Valaree DonFrancesco on January 28, 2021
Washington, DC, January 28, 2021— Even with the world acutely aware of public health matters in light of the COVID-19 pandemic, there are millions in the United States and around the globe living with rare diseases and accompanying life-altering issues that are largely unknown to the general public. Rare Disease Day 2021 is coming up in thirty days, and the National Organization for Rare Disorders (NORD®) is inviting all to join in shining a light Read more >
By Valaree DonFrancesco on January 27, 2021
Washington, DC, January 27, 2021—Today, the National Organization for Rare Disorders (NORD®) and its Rare Action Network (RAN™) published the 6th Edition of the State Report Card, the annual report rating each state and Washington, DC on the most important issues directly affecting more than 25 million Americans living with rare diseases. Despite a year marked by devastating impacts from the COVID-19 pandemic, the State Report Card demonstrates that progress was made in many states on newborn Read more >
By Valaree DonFrancesco on January 26, 2021
Washington, DC, January 26, 2021—In an effort to provide clear, useful, authoritative information to rare disease patients and caregivers on the COVID-19 vaccines, on January 15 the National Organization for Rare Disorders (NORD®), along with The ALS Association, Cystic Fibrosis Foundation and Muscular Dystrophy Association, hosted a special webinar with leaders from the US Food and Drug Administration (FDA) and the Centers for Disease Control and Prevention (CDC). In December 2020 FDA granted Emergency Read more >
By Valaree DonFrancesco on January 26, 2021
My son Bradley was diagnosed with infantile myofibromatosis when he was four months old. We noticed he had a large mass on his forearm and immediately called the pediatrician. They sent us to radiology to have an ultrasound done and before we knew it, we were headed to the medical center in Houston, Texas to meet an Read more >
By Valaree DonFrancesco on January 25, 2021
On January 22, NORD’s Rare Caregiver Respite Program was featured in an article by BioNews Service writer Mary Chapman detailing the program’s offerings. It has run in the following patient-focused newsletters to date: Pulmonary Fibrosis News (reach: 90k readers) Cystic Fibrosis News (reach: 50k readers) Cushing’s Disease News (reach: 13k readers) The article can be Read more >
By Valaree DonFrancesco on January 25, 2021
My oldest daughter, Olivia, was recently diagnosed with Barakat syndrome (Gata 3 or HDR syndrome). Though she is eleven now, we have been battling the kidney disease part since birth and hearing loss since age five. As of now, she does not exhibit any hypoparathyroidism symptoms yet. The biggest stress on our family is not knowing how Barakat will progress or what the future might look like for her. We treat each part of her disease Read more >
By Valaree DonFrancesco on January 24, 2021
You are featured in the 2021 Rare Disease Day international campaign as a patient “hero” from the United States. Why is Rare Disease Day important to you? I‘m so honored to be a part of this amazing campaign. Rare Disease Day is important to me because it’s a day when a spotlight is focused on people worldwide who are living with Read more >
By Valaree DonFrancesco on January 22, 2021
The National Organization for Rare Disorders (NORD®) looks forward to working with Dr. Janet Woodcock as Acting Commissioner of the US Food and Drug Administration (FDA). Dr. Woodcock has consistently demonstrated her deep commitment to the rare disease patient community. Under her leadership, FDA has made important advances in regulatory science which have helped foster the Read more >
By Valaree DonFrancesco on January 14, 2021
As part of its expanded outreach to medical professionals, NORD recently partnered with Frontline Medical Communications (FMC), a division of Medscape, on Rare Diseases Report: Rheumatology and Rare Diseases Report: Cancers, both published in late 2020. The two special issues are the latest in a series of publications on which NORD and FMC collaborate to promote awareness of rare diseases, current research and state-of-the-art treatments among physicians and other Read more >
By Valaree DonFrancesco on December 23, 2020
At NORDpod, we share our individual stories and experiences through bi-weekly conversations to celebrate (and sometimes commiserate) all the ways rare disease impacts our lives. This week’s episode is a supersized BONUS POD from the 2020 Living Rare Forum plenary session “Rare Storytelling Hour.” The session was moderated by Lesli Nordstrom, NORD Director of Marketing and Read more >
By Valaree DonFrancesco on December 17, 2020
In a 12.16.2020 article from STAT on how shortages of protective gear pose a continued threat to some rare disease patients, NORD’s COVID-19 Community Survey Report is highlighted and NE Rare Action Network’s Aimee Guarnieri and NY Rare Action Network’s Mary Wooten are interviewed. Also interviewed in the piece is Lauren Ruotolo, president of the Read more >
By Valaree DonFrancesco on December 16, 2020
The Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP) initiative will allow patient organizations to leverage the data they have collected to accelerate understanding of disease progression, clinical outcome measures and biomarkers for rare diseases. It will increase the efficiency of data analysis, and hopefully expedite treatments for rare diseases individually and for symptoms that are common across multiple rare disorders. In the third and Read more >
By Valaree DonFrancesco on December 16, 2020
On the show today, we’re talking all things rare cancer and highlighting the incredible impact that NORD’s Rare Cancer Coalition has made since it was founded — by our two guests: John Hopper President of the Board of the Fibrolamellar Cancer Foundation and Founding Chairman of the GI Cancer Alliance AND Jim Palma, Executive Director Read more >
By Valaree DonFrancesco on December 9, 2020
Natural history studies provide health care professionals and researchers with first-hand information about people living with rare diseases and give insight into how rare diseases present, progress over time and impact patients. Data sharing supports patients by helping the community understand their disease better, which helps improve clinical care and can accelerate the development of new treatments. Learn more in How Does Data Sharing Improve Read more >
By Valaree DonFrancesco on December 3, 2020
As the primary benefactors of drugs that treat rare diseases, patients and caregivers must play a role in the drug development process. Patients and caregivers bring a human perspective to the drug development process and can guide researchers toward beneficial treatment outcomes. Hear from Davelyn Hood (Board President, Congenital Hyperinsulinism International and PI, CHI HI Global Registry), Joshua Mann (Director of Engagement, VHL Alliance), and Jessica Bohonowych (Associate Read more >
By Valaree DonFrancesco on December 2, 2020
On the show today, Tom Rhoads, advocate, caregiver, and Founder and CEO at Spencer Health Solutions, whose mission is — if we may so paraphrase — make life easier for families and caregivers by simplifying the complex world of prescription medication adherence. Tom talks about how to make the patient experience better by taking into Read more >
By Valaree DonFrancesco on November 20, 2020
On 11.19.20 in an article entitled “Ways to Make Your Donated Money and Goods Go Further,” Connecticut magazine included NORD in their list of ten Connecticut-based nonprofits that have each earned four stars from charity-assessment monitor Charity Navigator. #NORDintheNews
By Valaree DonFrancesco on November 19, 2020
Washington, DC—November 19, 2020: Today, the National Organization for Rare Disorders (NORD®) published a comprehensive report through its RareInsights™ initiative: Barriers to Rare Disease Diagnosis, Care, and Treatment in the US: A 30-year Comparative Analysis. As part of an ongoing mission to generate evidence and data to advance our collective understanding of the rare disease patient experience, NORD conducted two studies aimed at identifying trends in rare disease diagnosis, care and treatment in the United States. The findings Read more >
By Valaree DonFrancesco on November 18, 2020
Washington, DC, November 18, 2020—With a mission of empowering and equipping the rare disease community to effectively engage decision-makers within their state governments, the National Organization for Rare Disorders (NORD®) has launched an initiative that will assist in building well-organized, high-functioning Rare Disease Advisory Councils (RDACs) in every state—“Project RDAC.” The inaugural public meeting in support of Project RDAC will be held virtually on December 16. First established by North Carolina rare disease patients, families and health care providers in 2015, an RDAC provides stakeholders with a forum to make recommendations to state leaders Read more >
By Valaree DonFrancesco on November 18, 2020
Today’s show is all about one patient’s story navigating the world of rare disease, you know – the club you didn’t ask to join, but somehow, once you’re here, you’re kind of family? Sarah Hill had a life interrupted at a very young age. After being fabulously misdiagnosed and not taken seriously for years, at Read more >
By Valaree DonFrancesco on November 13, 2020
NORD’s recent telehealth report was featured in an article in Managed Healthcare Executive, a digital magazine from MJH Life Sciences, on 11.12.2020: “The federal government took important steps to temporarily expand coverage for telehealth services during the pandemic, including removing barriers for Medicare patients. Plus, most states are allowing out-of-state healthcare providers in good standing Read more >
By Valaree DonFrancesco on November 13, 2020
At the Head of the Herd is… Charlene Son Rigby, President and Cofounder, STXBP1 Foundation Charlene advocates for those affected by… STXBP1 encephalopathy Charlene is located in… San Francisco, CA Charlene most frequently checks her… Twitter account @charleneson How Charlene got here… My daughter, Juno, was diagnosed with STXBP1 encephalopathy in 2016 after a three-year journey Read more >
By Valaree DonFrancesco on November 11, 2020
There are five steps in the drug development process, which are designed to help ensure that potential new therapies are both safe and effective. Developing medical products for rare diseases encounters many challenges throughout this process. The Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP) is being developed by NORD and the Critical Path Institute (C-Path) to Read more >
By Valaree DonFrancesco on November 10, 2020
Washington, DC, November 10, 2020—This year, in conjunction with its rare disease community partners, the National Organization for Rare Disorders (NORD®) continued to drive research and innovation through the IAMRARE™ registry program. Having launched its first study in 2014, today IAMRARE supports longitudinal data collection efforts for over 40 rare conditions, with more than 11,000 participants. NORD’s ongoing research work and partnerships with the rare community are being acknowledged at the highest levels. In his keynote at last month’s Rare Diseases and Read more >
By Valaree DonFrancesco on November 4, 2020
On the show today: Pamela Gavin, Chief Strategy Officer at NORD. This episode is Part Three in — you guessed it — our three-part series on Telehealth… only this time around, it’s all about policy, advocacy, and how the only thing that has ever moved the needle to make life better for patients are patients Read more >
By Valaree DonFrancesco on October 28, 2020
Washington, DC, October 28, 2020—As part of its commitment to community engagement and organizational capacity building, the National Organization for Rare Disorders’ (NORD®) RareLaunch® training program will host two days of free workshops to take place in December, funded in part through a grant from the Chan Zuckerberg Initiative Donor-Advised Fund, an advised fund of Silicon Valley Community Foundation. More than 50% of the 7,000 known rare diseases lack organized representation or support, leaving patients Read more >
By Valaree DonFrancesco on October 23, 2020
At the Head of the Herd is… Lanie Etkind, Executive Director, Familial Dysautonomia Foundation Lanie advocates for those affected by… familial dysautonomia (FD) Lanie is located in… New York, NY How Lanie got here… I first heard of this rare disorder when a friend’s son was born with it 14 years ago. I was merely a Read more >
By Valaree DonFrancesco on October 22, 2020
On the show today: Crisis Management OR how to pivot with as much style and grace as possible when all plans go out the window. Joining us is Debbie Drell, Director of Membership here at NORD and Mary McGowen, Executive Director of the Myositis Association, whose mission is to improve the lives of persons affected Read more >
By Valaree DonFrancesco on October 21, 2020
TUCSON, Ariz. and WASHINGTON, D.C. October 21, 2020 — The Critical Path Institute (C-Path) and the National Organization for Rare Disorders (NORD®) hosted the Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP) 2020 Virtual Workshop on Monday, October 19. The platform, funded by a cooperative agreement through the U.S. Food and Drug Administration (FDA), serves as a centralized Read more >
By Valaree DonFrancesco on October 15, 2020
A new article on PsychologyToday.com, “People with Rare Diseases Need Better Social Support,” examines a new study that shows which types of support most benefit those with rare diseases. NORD is mentioned in the article and our RareInsights rare disease factsheet (see above) is prominently featured. #NORDinthenews
By Valaree DonFrancesco on October 14, 2020
NORD and the Critical Path Institute (C-Path) are collaborating on a new initiative, the Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP), bringing together data from different sources, making it available for use and providing analytics tools to help researchers and drug developers overcome challenges in rare disease drug development. Watch video #3 in NORD and C-Path’s three-part video series, “RDCA-DAP: Shortening the Read more >
By Valaree DonFrancesco on October 14, 2020
On this extra special BONUS EPISODE of NORDpod, it’s our very own Lesli Nordstrom, Director of Marketing and Communications! AND… In an epic role reversal, she dropped by OffScrip Media Studios in downtown Manhattan for a LIVE in-person interview with Matthew Zachary and OffScrip Media co-founder and COO Andrew McDowell. Yes, we took all the precautions. Read more >
By Valaree DonFrancesco on October 9, 2020
Washington, DC, October 9, 2020—On October 8 and 9, the National Organization for Rare Disorders (NORD®) virtually hosted the 2020 Rare Diseases and Orphan Products Breakthrough Summit, the first time the organization representing over 25 million Americans impacted by rare diseases has presented the conference exclusively online. Nearly 900 registrants from more than 20 countries around the world gathered online for the annual event, the most impactful rare disease conference in the United States. Each year the NORD Read more >
By Valaree DonFrancesco on October 9, 2020
At the Head of the Herd is… Jennifer Canvasser, Founder and Director, Necrotizing Enterocolitis (NEC) Society Jennifer advocates for those affected by… necrotizing enterocolitis (NEC) Jennifer is located in… Davis, California Jennifer most frequently checks her… Twitter page How Jennifer got here… My son Micah developed NEC when he was six weeks old. He endured multiple Read more >
By Valaree DonFrancesco on October 7, 2020
On today’s show, our time’s enduring topic — No, not COVID, but it does make a distinct and necessary cameo on the show — No, we’re talking about Telehealth. Telemedicine. Tele–all the things. Perhaps even the telephone when required. Joining us are Dr. Natasha Shur, Medical Geneticist, and Monisha Kisling, a genetic counselor both from Read more >
By Valaree DonFrancesco on October 5, 2020
The COVID-19 pandemic has caused great fears around drug shortages, the demand for personal protective equipment (PPE) and the status of clinical trial research for rare diseases. On September 16, NORD heard from our rare disease community and brought their questions directly to the United States Food and Drug Administration (FDA) during a special NORD Read more >
By Valaree DonFrancesco on October 1, 2020
Washington, DC, 10/1/2020 — Today, the National Organization for Rare Disorders (NORD®) opened registration for a natural history study on metachromatic leukodystrophy (MLD), a lethal rare disease currently without an FDA–approved treatment. NORD’s Natural History Of MEtachromatic Leukodystrophy (HOME) Study represents an opportunity to address an area of unmet need, providing dynamic data collection and a novel framework for building regulatory-grade rare disease natural history studies incorporating patient-reported information. This pilot project is funded through an Read more >
By Valaree DonFrancesco on September 30, 2020
#RareCancerDay brings attention to the fact that without research funding, the only option for patients is to endure blanket therapy regimes that are designed for other types of cancers and, as a result, patients typically do not have high survival rates. One of these types of rare cancers is fibrolamellar carcinoma (FLC), an aggressive liver Read more >
By Valaree DonFrancesco on September 30, 2020
In this week’s Voices of Rare Cancer feature, Lisa shares her experience with cholangiocarcinoma.
By Valaree DonFrancesco on September 29, 2020
SCREENING NEWBORNS FOR RARE DISEASES: THE IMPORTANCE OF CONFIRMATORY TESTING AND COLLABORATION By José Abdenur, MD and Rebekah Bressi, CGC ”Newborn screening is one of the most successful public health initiatives that allows physicians to prevent the disability or death of thousands of children every year. Providing a timely diagnosis and treatment for families is Read more >
By Valaree DonFrancesco on September 28, 2020
Cleveland, OH, September 28, 2020—A Cure in Sight and the National Organization for Rare Disorders have launched an innovative study to research ocular melanoma, a disease that can cause blindness, loss of the eye and even death from spread to other organs. The new study, INSIGHT: A Global Ocular Melanoma Patient Registry, creates a platform Read more >
By Valaree DonFrancesco on September 25, 2020
My name is Jan and in January 2018 life changed for my husband and me as we knew it. I was on the operating room table to have gastric sleeve surgery. I had six months of intense and detailed medical tests prior to the surgery. Imagine my shock when I woke up from surgery (the first time I had major surgery Read more >
By Valaree DonFrancesco on September 24, 2020
For Immediate Release Major Groups Representing Millions of Patients Release Telehealth Principles September 24, 2020 – A coalition of organizations representing millions of patients who live with serious, acute, and chronic conditions has released principles to guide policymakers seeking to ensure patients can continue to safely access appropriate telehealth services during and after the COVID-19 public Read more >
By Valaree DonFrancesco on September 24, 2020
At the Head of the Herd is… Susan Thornton, CEO, Cutaneous Lymphoma Foundation Susan advocates for those living with… Cutaneous lymphoma Susan is located in… Philadelphia, PA. You can connect with the CL Foundation on… Facebook or LinkedIn How Susan got here… In addition to being the current CEO of the Cutaneous Lymphoma Foundation, I’m also Read more >
By Valaree DonFrancesco on September 23, 2020
There are over 7,000 rare diseases, approximately 90% do not have FDA-approved treatments, and the process of developing therapies for rare diseases involves special challenges and considerations. NORD and the Critical Path Institute (C-Path) are working together on a new initiative, the Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP), bringing together data from different sources and providing tools for streamlining the steps of research and development to help Read more >
By Valaree DonFrancesco on September 23, 2020
On today’s show, host Matthew Zachary welcome parents Alice Alpert and Edgar Wonzica to share their story of entering the rare disease community by way of their beautiful son Leo being born with Treacher Collins syndrome, a very rare genetic disorder with fewer than 20,000 US cases per year. Edgar, a practicing psychiatrist with a Read more >
By Valaree DonFrancesco on September 22, 2020
US Senator Richard Blumenthal (D-CT) recently commented on Rare Cancer Day, coming up on September 30: “On Rare Cancer Day, I’m proud to stand with the National Organization for Rare Disorders to raise awareness of rare – and often deadly – cancers and to keep up the fight for cures. With robust federal investment, we Read more >
By Valaree DonFrancesco on September 21, 2020
Krabbe Community United Research and Engagement Study (KrabbeCURES) We are pleased to announce the launch of KrabbeCURES, a collaborative effort between KrabbeConnect and the National Organization for Rare Disorders (NORD) to study globoid cell leukodystrophy (Krabbe disease). KrabbeCURES supports research on Krabbe disease and how it progresses over time. OVERVIEW OF RESEARCH STUDY KrabbeCURES is Read more >
By Valaree DonFrancesco on September 18, 2020
An Unlikely Warrior A warrior has been defined as a brave or experienced soldier or fighter. Hardly seems like me. I was small growing up, and always the last one picked for sports. I was also usually one of the kids that got picked on first, as I most likely to cry. I was labeled Read more >
By Valaree DonFrancesco on September 17, 2020
Head of the Herd Spotlight, Amber Freed SLC6A1 Connect At the Head of the Herd is… Amber Freed, Founder and CEO, SLC6A1 Connect. Amber advocates for… children living with the rare neurological condition SLC6A1 and their families. Amber is located in… Denver, Colorado. You can follow Amber and SLC6A1 Connect… on Facebook and Twitter. How Read more >
By Valaree DonFrancesco on September 16, 2020
Washington, DC, September 16, 2020–The National Organization for Rare Disorders (NORD®) has announced the second annual Rare Cancer Day, taking place September 30, 2020. Spearheaded by the NORD Rare Cancer Coalition™, which is composed of 27 rare cancer-specific member organizations, Rare Cancer Day is observed to bring attention to the challenges patients and caregivers face, raise awareness of the need for greater research funding, early diagnosis and patient support, and unify individuals living with rare cancers. Read more >
By Valaree DonFrancesco on September 15, 2020
September is Newborn Screening Awareness Month, and I’d like to share our family’s experience with it, and why we think every parent should know more about this incredible test, that looks for dozens of genetic disorders in babies that are not so easily apparent at birth. My husband Chris and I waited to have kids, Read more >
By Valaree DonFrancesco on September 11, 2020
In this week’s Voices of Rare Cancer feature, Jeremy shares his experience with pseudomyxoma peritonei (PMP), and the role genomic testing has played in his treatment.
By Valaree DonFrancesco on September 10, 2020
Washington, DC, September 10, 2020–At a time when it is vitally important for the rare disease community to come together, the National Organization for Rare Disorders (NORD®) has announced a program of broad-ranging topics with speakers of unparalleled expertise for the 2020 NORD Rare Diseases and Orphan Products Breakthrough Summit, taking place virtually October 8-9. “With our community deeply affected by Read more >
By Valaree DonFrancesco on September 9, 2020
On today’s show, the man, the myth, the legend, Mike Porath, Founder and CEO at The Mighty and member of the Board of Directors at NORD. For those unaware, The Mighty is the world’s largest digital health community online at TheMighty.com and via a free mobile app for iOS and Android. 3MM members can’t be Read more >
By Valaree DonFrancesco on September 4, 2020
Rare Cancer Day is an annual awareness day devoted to shining a light on rare cancers and the issues people living with them face. Spearheaded by the NORD Rare Cancer Coalition™, which is composed of 27 rare cancer-specific member organizations, Rare Cancer Day is observed on September 30 to highlight the challenges patients face and Read more >
By Valaree DonFrancesco on September 1, 2020
A Personal Reflection from Stephanie Cozine, Delaware Rare Action Network Ambassador Did you know that your baby is screened for different diseases depending on which state you live in? That it’s possible your state doesn’t screen for a disease that it is recommended to? Do you know what your newborn is screened for and how? Read more >
By Valaree DonFrancesco on August 28, 2020
At the Head of the Herd is… Deb Ayres, President, The Avalon Foundation. Deb advocates for… patients with pediatric hypophosphatasia (HPP) and their families. Deb is located in… Toledo, Ohio. How Deb got here… When my daughter Avalon (“Avie”) was ten years old, she started treatment for HPP and it was really challenging for her. The treatment can be incredibly painful and have a lot of adverse Read more >
By Valaree DonFrancesco on August 27, 2020
There are five steps in the drug development process, which are designed to help ensure that potential new therapies are both safe and effective. Developing medical products for rare diseases encounters many challenges throughout this process. The Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP) is being developed by NORD and the Critical Path Institute (C-Path) to Read more >
By Valaree DonFrancesco on August 26, 2020
What a great way to kick off the NORDpod series, because on today’s show host Matthew Zachary will be speaking with the man, the myth, the legend Peter Saltonstall, President and Chief Executive Officer of NORD. Peter’s been at the helm of NORD since 2008 and has a storied 30-year history of leadership for the Read more >
By Valaree DonFrancesco on August 25, 2020
“Since 1906, FDA’s dedicated career employees have worked tirelessly to ensure that Americans have access to the safest supply of products we rely on every day, including food, drugs and medical devices. As a result, the US regulatory system sets the gold standard for the rest of the world. FDA’s credibility is of utmost importance Read more >
By Valaree DonFrancesco on August 17, 2020
The COVID-19 pandemic has had a huge impact on the rare disease community. NORD has heard from countless patients over the last few months about how this crisis has added to the already significant challenges that come from living with, or caring for, someone with a rare disease. Though many challenges remain, the expansion of telehealth services, which allow patients to see their Read more >
By Valaree DonFrancesco on August 14, 2020
At the Head of the Herd is… Katie Wright, Director, The VEDS Movement (a division of The Marfan Foundation) Katie advocates for those living with… Vascular Ehlers-Danlos Syndrome (VEDS) How Katie got here… When I was diagnosed with VEDS at 28 years old in 2017, I felt very alone. I was also pretty fired up about Read more >
By Valaree DonFrancesco on August 12, 2020
#NORDinthenews NORD is mentioned as an information source in “10 Rare Autoimmune Diseases That Don’t Get Enough Attention,” an article appearing in Parade.com’s “Healthy Now” column today. Parade.com is the official site of Parade, the most widely read magazine in the US. The site receives over 4 million visits each month. Read the article here. Read more >
By Valaree DonFrancesco on July 31, 2020
At the head of the herd is… Seth Rotberg, Co-Founder, Our Odyssey Seth most frequently checks his… Twitter or Instagram accounts Seth advocates for… Young adults between the ages of 18 – 35 living with a rare disease or chronic condition Seth is located in… Boston, Massachusetts How Seth got here… When I was 15 Read more >
By Valaree DonFrancesco on July 23, 2020
Washington, DC, July 23, 2020—In response to the unprecedented challenges rare disease nonprofit organizations are currently facing, the National Organization for Rare Disorders (NORD®) today announced nineteen seed grant recipients of its COVID-19 Rapid Response Leadership Series program. The awards will assist patient advocacy groups to access capacity-building tools and training needed in the new virtual environment made necessary by COVID-19. Once large in-person meetings, including vital fundraising events and conferences, were canceled many organizations providing critical services to Americans living with a rare Read more >
By Valaree DonFrancesco on July 17, 2020
At the head of the herd is… Taylor Kane, Founder and President, Remember the Girls Taylor advocates for those living as… Carriers of all X-linked diseases Taylor is located in… Mount Laurel, New Jersey Taylor most frequently checks her… Twitter page How Taylor got here… In 2001, when I was three-years-old, my dad was diagnosed with Read more >
By Valaree DonFrancesco on July 16, 2020
Today, the Chan Zuckerberg Initiative (CZI) announced $1.3 million in funding to support the global rare disease community through two distinct grants to NORD and EURORDIS-Rare Diseases Europe. These grants will support organizational capacity building programs and awareness campaigns for Rare Disease Day, respectively, and are part of CZI’s Rare As One Project, aimed at Read more >
By Valaree DonFrancesco on July 14, 2020
Patient Empowerment Network recently interviewed Rare Action Network Volunteer State Ambassador for Illinois Maria Bellefeuille on being both a rare disease patient and advocate. Maria will be speaking at this weekend’s Living Rare, Living Stronger NORD Patient and Family Forum on the “Long-term Survivor Panel: Tips, Tricks & Life Hacks for Living Your Best, Rare Read more >
By Valaree DonFrancesco on July 6, 2020
During the pandemic, many rare disease patients have been diligent about staying home as social distancing continues to be critical to minimize the spread of the coronavirus; as a result, many patients have switched to receiving ongoing care through telehealth. Telehealth is generally described as a virtual communication used to deliver care outside of a Read more >
By Valaree DonFrancesco on June 26, 2020
NORD is deeply concerned about the “Promising Pathway Act” recently introduced in both the Senate and the House. Contrary to the stated goal of giving patients with serious and life-threatening diseases a “chance at receiving meaningful treatments,” this legislation, by its own terms, would lower FDA’s approval standards, exposing patients to unsafe and ineffective medicines. Read more >
By Valaree DonFrancesco on June 24, 2020
A Note from NORD: In May, NORD was approached by the Oncology Center of Excellence (OCE) at the US Food and Drug Administration (FDA) to collaborate on a new initiative to help enhance communication revolving around the conduct of clinical trials for rare cancer drug development during the COVID-19 pandemic. Earlier this month, NORD, NORD’s Read more >
By Valaree DonFrancesco on June 22, 2020
#NORDintheNews Founded in 1993 by brothers Tom and David Gardner, The Motley Fool helps millions of people attain financial freedom through their website, podcasts, books, newspaper column, radio show, and premium investing services. On June 20, a Motley Fool article on choosing nonprofits worth donating to featured NORD, along with the American Cancer Society and Read more >
By Valaree DonFrancesco on June 22, 2020
Washington, DC, June 22, 2020 – The National Organization for Rare Disorders® (NORD), the leading independent nonprofit organization representing over 25 million Americans living with rare diseases, today announced the availability of three new funding opportunities to support the study of two rare diseases. The initial application deadline is August 25, 2020. NORD’s Jayne Holtzer Read more >
By Valaree DonFrancesco on June 22, 2020
The newest addition to the NORD Rare Disease Video Library is a set of four videos on genome editing, a promising approach to treatment for many people affected by rare diseases. The videos address questions shared with NORD by our members and social media followers. These short, animated videos answer basic questions such as Read more >
By Valaree DonFrancesco on June 19, 2020
At the head of the herd is… Beverley Francis-Gibson, President and Chief Executive Officer, Sickle Cell Disease Association of America Beverley advocates for those living with… sickle cell disease. How Beverley got here… I started working at SCDAA in 2018 because of my personal connection to sickle cell disease. I have a family member who Read more >
By Valaree DonFrancesco on June 12, 2020
I was diagnosed with toxic acute progressive leukoencephalopathy, a rare brain disease that took me from a high functioning and able-bodied individual to locked in syndrome, in six months. This story began on May 24, 2017 at UMass Memorial Hospital in Worcester Massachusetts. I went to the emergency department with stroke-like symptoms. Life was never Read more >
By Valaree DonFrancesco on June 11, 2020
We are at a pivotal time in rare disease, one that requires new approaches and fresh perspectives in order to achieve real progress. Given the impact of the COVID-19 pandemic on clinical trials, drug development, and pharmaceutical innovation, connecting stakeholders and advancing meaningful dialogue is now more critical than ever to improving the lives of Read more >
By Valaree DonFrancesco on June 3, 2020
At this pivotal time, it is our duty as an organization and as global citizens to broadcast our support of people who have been systemically discriminated against, underserved and underrepresented in the United States, many of whom are part of our rare family. NORD has been fighting for the rights of all rare disease patients Read more >
By Valaree DonFrancesco on June 2, 2020
What is a registry and why are they so important to the rare disease community? Together, NORD and the Critical Path Institute (C-Path) created this video to explain the value in registries and why patients and patient organizations should participate in them. Registry data can now be shared through their collaborative platform, the Rare Disease Read more >
By Valaree DonFrancesco on May 22, 2020
At the head of the herd is… Emile Najm, Chief Executive Officer, KAT6A Foundation Emile most frequently checks his… Facebook account Emile advocates for those living with… A rare syndrome resulting from a mutation in the KAT6A gene. Emile is located in… West Nyack, New York How Emile got here… Emile Najm’s son was diagnosed with Read more >
By Valaree DonFrancesco on May 21, 2020
Washington, DC, May 21, 2020—The National Organization for Rare Disorders (NORD®) today launched the COVID-19 Rapid Response Leadership Series, a program providing resources to support rare disease nonprofit groups in facing challenges brought on by the current pandemic. NORD recently surveyed the rare disease community, collecting feedback from nearly 800 patients and caregivers on the Read more >
By Valaree DonFrancesco on May 19, 2020
Washington, DC, May 19, 2020—The National Organization for Rare Disorders (NORD®) has announced new awards through its Rare Disease Research Grant Program, which provides funding to qualified researchers for translational or clinical studies related to the development of new diagnostics or treatments for rare disease. Since the program’s launch in 1989, NORD grants have led Read more >
By Valaree DonFrancesco on May 13, 2020
NORD, KrabbeConnect and Partners for Krabbe Research invite you to register for an externally-led Patient-Focused Drug Development (EL-PFDD) virtual meeting on Krabbe disease, taking place Thursday, October 29, 12:30-4:30pm ET. Patients and caregivers impacted by Krabbe disease who are interested in participating at the virtual meeting as panelists should complete this form by August 7. Read more >
By Valaree DonFrancesco on May 12, 2020
Washington, DC, May 12, 2020— United with more than 25 million Americans living with rare diseases, the National Organization for Rare Disorders (NORD®) today launched its COVID-19 Premium & Medical Relief Program to provide vital support to members of the rare disease community affected by the COVID-19 pandemic. The program will assist those with a Read more >
By Valaree DonFrancesco on May 7, 2020
NORD’s recently released COVID-19 Community Survey Report reveals the far-reaching impact the pandemic is having on rare patients and families. 772 participants responded to the survey conducted by NORD’s research team from April 1 through April 8, 2020. Respondents represent 49 of 50 states and Washington, DC, and multiple disease categories, including genetic conditions, primary immunodeficiencies, Read more >
By Valaree DonFrancesco on May 5, 2020
Washington, DC, May 5, 2020–Today, the National Organization for Rare Disorders (NORD®) released the findings of its recent survey on the critical issues and concerns the rare disease community is facing due to the COVID-19 pandemic. The COVID-19 Community Survey Report is published through RareInsights™, a NORD initiative to expand public knowledge of rare diseases and Read more >
By Valaree DonFrancesco on April 30, 2020
Welcome to NORDpod™, the voice of rare disease and the official podcast of The National Organization of Rare Disorders (NORD®), a 501(c)(3) patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. We are one community, and, together, our voices are louder. Learn more about NORD at http://RareDiseases.org Follow us Read more >
By Valaree DonFrancesco on April 28, 2020
“…As we pull into the hospital, she starts screaming that she doesn’t want to be there, and she wants to be home… No matter how much her doctors want to make her feel better, and she’s also three, so it’s hard to explain to her that this will make you feel better. All she knows Read more >
By Valaree DonFrancesco on April 24, 2020
Between 25 and 30 million Americans have a rare disease, many of whom are disproportionately at risk of getting sick from COVID-19. According to the Centers for Disease Control and Prevention, in addition to older adults, people of any age who have serious underlying medical conditions like chronic lung disease or asthma, serious heart conditions, Read more >
By Valaree DonFrancesco on April 23, 2020
The current COVID-19 pandemic necessitates a new approach to many aspects of life—particularly those that involve gathering together. The health and well-being of people living with rare diseases, their loved ones and those working to improve their lives are always top priorities at NORD. With that in mind, we have made the decision to move Read more >
By Valaree DonFrancesco on April 21, 2020
The National Organization for Rare Disorders (NORD®) is excited to spotlight an article written by NORD’s Director of Research, Vanessa Boulanger, MSc, published in the 2020 Rare Neurological Disease Special Report. The feature, “Now Is The Time For Research On Rare Diseases,” details the importance of natural history studies, the role of patients and caregivers Read more >
By Valaree DonFrancesco on April 20, 2020
In this time of crisis and uncertainty, NORD’s policy team has been working to pursue policies at the federal and state levels to address COVID-19 related concerns critical to the rare disease community. Protecting Access to Necessary Medical Treatment During the Pandemic Social distancing is critical for slowing the spread of the coronavirus. But, for Read more >
By Valaree DonFrancesco on April 16, 2020
The results of a survey on gene therapy conducted by NORD and Frontline Medical Communications (FMC) among physicians and other healthcare professionals were recently announced. The responses indicated significant knowledge gaps among providers across 14 specialty areas. For instance: 63% of respondents were unaware of current FDA-approved gene therapies. Respondents reported a low level of Read more >
By Valaree DonFrancesco on April 15, 2020
Washington, DC, April 15, 2020— At this time of crisis and with the health, safety and well-being of patients and caregivers as its top priorities, the National Organization for Rare Disorders (NORD®) today launched its COVID-19 Critical Relief Program to provide much-needed assistance to members of the rare community affected by the COVID-19 pandemic. The Read more >
By Valaree DonFrancesco on April 13, 2020
With the availability of several promising gene therapies and more on the horizon, a recent survey published in Neurology Reviews’ 6th annual Rare Neurological Disease Special Report indicates that many potential prescribers are unaware of the life-changing potential of gene therapy. The survey, a joint undertaking by the National Organization for Rare Disorders (NORD®) and Frontline Medical Communications (FMC), was completed by Read more >
By Valaree DonFrancesco on April 3, 2020
This week, the Fanconi Anemia Research Fund (FARF) and the National Organization for Rare Disorders (NORD) launched the largest-ever study to research Fanconi anemia (FA), a patient-driven natural history registry that will result in a wide variety of clinical findings. Fanconi anemia currently has no cure. The new study, “An observational study in Fanconi Anemia,” Read more >
By Valaree DonFrancesco on April 2, 2020
Parsipanny, NJ – Frontline Medical Communications (FMC) and the National Organization for Rare Disorders (NORD)® this week announced the release of the 6th annual Rare Neurological Disease Special Report. As the largest Rare Neurological Disease Special Report published to-date, this year’s issue features a unifying theme of the critical nature of multi-national, real-time collaboration that Read more >
By Valaree DonFrancesco on March 31, 2020
During times of crisis we are once again reminded of how honored we are to fight for and alongside the rare disease community. Our rare herd is composed of remarkable individuals who truly embody our motto: Alone we are rare. Together we are strong. We hope you will enjoy taking a look back at 2019 Read more >
By Valaree DonFrancesco on March 30, 2020
The National Organization for Rare Disorders (NORD®) and EURORDIS-Rare Diseases Europe share the global concern that diagnostics, therapeutics and vaccines to address COVID-19 be developed expeditiously. NORD and EURORDIS represent the 30 million people in the US and 30 million people in the EU living with rare diseases, individuals disproportionately at risk if they contract Read more >
By Valaree DonFrancesco on March 27, 2020
The National Organization for Rare Disorders (NORD®) is excited to announce that a new peer-reviewed manuscript written by members of our research team has been published as a leading article by the journal Pharmaceutical Medicine. The paper, entitled “Establishing Patient Registries for Rare Diseases: Rationale and Challenges,” begins by highlighting common barriers experienced by the Read more >
By Valaree DonFrancesco on March 24, 2020
Washington, DC, March 24, 2020–The National Organization for Rare Disorders (NORD®) is pleased to welcome Prashant Goel as the new Vice President of Information Technology, based in the Danbury, CT office. Prashant, who joined NORD in February, leads a team of professionals with extensive knowledge of developing scalable enterprise-level systems, portals, and services that process Read more >
By Valaree DonFrancesco on March 23, 2020
Editor’s Note: The VHL Alliance’s Jeffersonian Dinner described below took place in early March. As we now practice social distancing in light of COVID-19, in-person events of this nature should not currently be taking place. However, the Jeffersonian Dinner presents an interesting kind of event for non-profits to consider for the future when such gatherings Read more >
By Valaree DonFrancesco on March 21, 2020
#NORDinthenews NORD is featured as a rare disease resource and Dr. Marshall Summar, Chairman of NORD’s Board of Directors, is quoted extensively in an article published by US News and World Report that provides information and advice for parents dealing with a recent rare disease diagnosis for their child. https://health.usnews.com/conditions/articles/when-your-child-has-a-rare-disease
By Valaree DonFrancesco on March 20, 2020
The health and safety of those with rare diseases and their caregivers are always our top priorities at the National Organization for Rare Disorders (NORD). We know our members are working tirelessly to support their communities during this global crisis. Rare disease organizations have felt the impact of the coronavirus pandemic on all elements of Read more >
By Valaree DonFrancesco on March 20, 2020
Head of the Herd: Michele Sloan, Foundation to Fight H-abc At the head of the herd is… Michele Sloan, Director, Foundation to Fight H-abc Michele most frequently checks her… Facebook page Michele advocates for those living with… Hypomyelination with atrophy of basal ganglia and cerebellum (H-abc), a disease caused by a spontaneous defect of the Read more >
By Valaree DonFrancesco on March 16, 2020
The health and safety of the rare disease community is always our top priority at NORD. With that in mind, the Living Rare, Living Stronger NORD Patient and Family Forum will no longer be held on May 14 -16. We know how valuable it is for those with rare diseases to come together in Read more >
By Valaree DonFrancesco on March 16, 2020
#NORDinthenews NORD’s Associate Director of Advocacy Kristen Angell and Director of Research Programs Vanessa Boulanger were featured in an article in the Newtown Bee (Newtown, CT) on prevalence and other facts around rare disease on March 13. Rare Diseases May Be More Common Than You Think
By Valaree DonFrancesco on March 13, 2020
In 2009, NORD was invited to join the official Rare Disease Day campaign, led internationally by EURODIS. Since then, NORD has been the official US sponsor of Rare Disease Day, driving the annual campaign in the states, hosting advocacy events across the country and bringing the rare disease community together to promote awareness and help Read more >
By Valaree DonFrancesco on March 11, 2020
If you or someone you love is diagnosed with a rare disease, you might find yourself on a very quick learning curve about the disease (or about the lack of information on the disease, or trying to even get to an accurate diagnosis!). The number one priority for me after my sister was diagnosed with Read more >
By Valaree DonFrancesco on March 6, 2020
At the head of the herd is… Akiva Zablocki, President, The Hyper IgM Foundation Akiva most frequently checks his… https://www.facebook.com/Akiva Akiva advocates for those living with… hyper IgM syndrome Akiva is located in… New York, NY How Akiva got here… In 2013, my son was diagnosed with a very rare, one-in-a-million immune deficiency called X-linked Read more >
By Valaree DonFrancesco on March 5, 2020
As information on the coronavirus, COVID-19, dominates the news, we want to share with you guidance from the Centers for Disease Control and Prevention (CDC).
By Valaree DonFrancesco on March 3, 2020
NORD is proud to welcome Sing Me a Story to the upcoming 2020 Living Rare, Living Stronger Forum in Cleveland, Ohio, where the ideas of children living with rare diseases will be turned into song! This opportunity is supported by Horizon Therapeutics’ #RAREis program. NORD will spotlight one child’s story at the Living Rare Forum welcome reception on Saturday, July 18 with Read more >
By Valaree DonFrancesco on February 29, 2020
I suffer from neuromyelitis optica, or NMO disease (sister of MS, also known as Devic syndrome) and chronic pain. I experienced my first attack in the summer and now am in the thick of my second one (a relapse), and was officially diagnosed in October with NMO. NMO has made me half-blind (hopeful for my Read more >
By Valaree DonFrancesco on February 29, 2020
I was diagnosed with afibrinogenemia when I was just one day old. The day I was born my heel sticks would not stop bleeding, which immediately had the delivering doctor puzzled. I was then rushed to a different hospital, four hours away, where there were specialists that could figure out what was wrong. Being so Read more >
By Valaree DonFrancesco on February 29, 2020
I was diagnosed with primary immunodeficiency when I was four years old. With primary immunodeficiency, the assumption is that “it’s just an infection” or that it’s normal because “kids get sick.” The problem was that I was never getting better and was fighting for my life every time I was sick. It took countless life Read more >
By Valaree DonFrancesco on February 28, 2020
Washington, DC, February 28, 2020—The National Organization for Rare Disorders (NORD)®, the leading independent nonprofit organization representing over 25 million Americans with rare diseases, today launched the Undiagnosed Rare Disease Registry, a new study to collect de-identified information about hard-to-solve medical cases that will enable researchers to perform analyses at a scale previously not possible. Read more >
By Valaree DonFrancesco on February 27, 2020
Dance, lip-sync and comedy video creator Mark Anastasio spoke in a somewhat different tone in a recent Tik Tok video for his 6.3 million followers. The content of the video? Raising awareness for the rare disease community in memory of his teacher’s son, Tyler Cummings. Mark also used the video to launch a challenge to Read more >
By Valaree DonFrancesco on February 26, 2020
This year, NORD has developed a brief video for Rare Disease Day featuring rare patients, caregivers and supporters sharing their thoughts on the importance of the day and relaying the rallying cry, “Show Your Stripes!” Show Your Stripes takes its cue from the zebra, mascot of the rare disease community, which is known for its Read more >
By Valaree DonFrancesco on February 25, 2020
Does anyone ever think that they may have a rare disease? Well, I for one definitely didn’t. Here I was, having my annual check-up with my very astute dermatologist, who noticed an unusual clustering of red spots on the palms of my hands. She immediately sent me to a local New York hematologist who, after Read more >
By Valaree DonFrancesco on February 24, 2020
As a lead up to #RareDiseaseDay, NORD’s Education Senior Advisor Mary Dunkle was interviewed live on WFAN Sports Radio’s “Bob Salter Show” on Sunday, February 23. The 40 minute interview touched on topics including rare disease facts, NORD’s history and mission, the significance of Rare Disease Day and the upcoming Rare Disease Day: Mission 2020 Read more >
By Valaree DonFrancesco on February 14, 2020
At the head of the herd is… Bonnie Royster, Executive Director, Cornelia de Lange Syndrome (CdLS) Foundation Bonnie most frequently checks her… Facebook Bonnie advocates for those living with… Cornelia de Lange syndrome, or “CdLS” Bonnie is located in… Avon, CT How Bonnie got here… I have a corporate background in operations…but my heart has Read more >
By Valaree DonFrancesco on February 11, 2020
Washington, DC, February 11, 2020—The National Organization for Rare Disorders (NORD®) has announced this year’s roster of rare disease change-makers, the 2020 Rare Impact Award honorees. These exceptional individuals, organizations and industry innovators will be honored for their outstanding work for the rare disease community on May 15, 2020, in Cleveland, Ohio. The 2020 Rare Read more >
By Valaree DonFrancesco on February 4, 2020
My daughter Gia was diagnosed at birth with the rare disease sickle cell. Gia has had 5 bouts with pneumonia, many stays in ICU, and nine blood transfusions. Sickle cell disease (SCD) is a genetic blood disorder that causes normal red blood cells to be shaped like a “sickle,” preventing passage through the blood vessels Read more >
By Valaree DonFrancesco on February 4, 2020
This story is about our son, Wyatt, who was diagnosed with Coats plus syndrome at the age of ten. The story starts with my pregnancy. At 26 weeks, during a normal pregnancy, I suddenly felt the baby stop moving. Fearing I had lost my baby, we rushed to the hospital. After an ultrasound, we were Read more >
By Valaree DonFrancesco on February 4, 2020
This is my story of my own journey as a pyknodysostosis (PKND) patient. It began way back as any other PKNDs, but I started to experience the impact when I was five and broke my clavicle when I fell down from a tree in my front yard. Oh yes, I was as active as any Read more >
By Valaree DonFrancesco on February 4, 2020
This story is about my husband, Tucker. In 2004, we began to notice that he wasn’t able to play guitar like he used to, as well as that he was stumbling and falling down more. We went to the doctor and eventually he was diagnosed with Lou Gehrig’s disease, aka ALS (amyotrophic lateral sclerosis). We Read more >
By Valaree DonFrancesco on February 3, 2020
#NORDinthenews An essay by NORD President and CEO Peter L. Saltonstall on the Orphan Drug Act is featured in Congressional Quarterly Researcher’s Conquering Rare Diseases special issue. “Rare disease patients cannot afford to return to the early 1980s. The more than 25 million rare disease patients in the United States are counting on Congress to Read more >
By Valaree DonFrancesco on January 31, 2020
At the head of the herd is… Mike Morris, Co-Founder & President, TANGO2 Research Foundation Get in touch with Mike on… Facebook and Twitter Mike advocates for those living with… TANGO2 disorder Mike is located in… Middletown, CT How Mike got here… My son Ryan was diagnosed with TANGO2 disorder in July of 2017 at Read more >
By Valaree DonFrancesco on January 30, 2020
Washington, DC, January 30, 2020—According to the 5th Edition of the “State of the States Report,” released today by the National Organization for Rare Disorders (NORD®) and its Rare Action Network (RAN™), while many US states took powerful steps forward in 2019, there is major work yet to be done on a number of policy Read more >
By Valaree DonFrancesco on January 24, 2020
NORD is pleased to launch an addition to our robust rare disease programs providing financial support to the rare disease community. NORD’s new Neuromyelitis Optica Spectrum Disorder (NMOSD) Program provides financial assistance to eligible individuals diagnosed with this rare, chronic disorder. For more information on the NMOSD program, please contact NORD: phone: 203-202-8833 or email: Read more >
By Valaree DonFrancesco on January 23, 2020
Washington, DC, January 23, 2020–The National Organization for Rare Disorders (NORD)®, the Foundation for Rare Blood Diseases (SZB) and the pyruvate kinase deficiency community together made history on September 20, 2019 with patients and families sharing their experiences directly with the US Food and Drug Administration (FDA) and other key stakeholders, and first-of-its-kind testimony from Read more >
By Valaree DonFrancesco on January 20, 2020
At NORD we are extremely proud to welcome our 300th member organization! Our Odyssey is a national nonprofit supporting chronic and rare disease young adult patients by providing social and emotional support in the hope of improving their quality of life. Not only is Our Odyssey the 300th member of NORD, but they are also Read more >
By Valaree DonFrancesco on January 17, 2020
At the head of the herd is… Leah Schust Myers, Founder, Executive Director and Research Committee Chair, FamilieSCN2A Foundation Leah advocates for those living with… SCN2A Disorders Leah is located in… Gettysburg, PA How Leah got here… My son had his first seizure a few days after his first birthday. Our world was forever changed Read more >
By Valaree DonFrancesco on January 16, 2020
Washington, DC, January 16, 2020–The National Organization for Rare Disorders (NORD®), the leading independent nonprofit organization representing over 25 million Americans living with rare diseases, is issuing a Rare Disease Day decree: Show Your Stripes! This campaign takes its cue from the majestic zebra, known for its distinctive stripes. NORD is imploring the world at Read more >
By Valaree DonFrancesco on January 7, 2020
At NORD, we know that patient-powered initiatives change the world.
By Valaree DonFrancesco on December 20, 2019
Washington, DC, December 20, 2019—The National Organization for Rare Disorders (NORD)®, the leading independent nonprofit organization representing over 25 million Americans with rare diseases, announces the appointment of two new members to its Board of Directors, effective immediately. Joining the Board of Directors are Susan A. Berry, MD and Shafali Spurling Jeste, MD. “Our newest Read more >
By Valaree DonFrancesco on December 9, 2019
On Saturday, December 7, the Washington Post‘s Erin Blakemore profiled NORD’s Rare Disease Database and website, rarediseases.org, in the paper’s Health column. The following is an excerpt from the article: “The database contains reports on more than 1,200 of the disorders, from Aarskog syndrome, a rare genetic condition that produces facial, skeletal and genital Read more >
By Valaree DonFrancesco on December 6, 2019
Tell us a little bit about yourself! Where are you from? My name is Viridiana Murillo, and I am from Pomona, California. I am a first-generation Mexican-American scientist and the first in my family to explore the field of genomics and data science. With six years of combined academic research and clinical lab experience, I Read more >
By Valaree DonFrancesco on December 4, 2019
BioNews Service reporter Larry Luxner attended the 2019 NORD Rare Diseases and Orphan Products Breakthrough Summit in Washington, DC in October, and has since written two articles based on Summit content. Sickle Cell Disease News published the following article, centered on HHS Secretary Alex Azar’s Summit speech and comments regarding progress on the sickle cell Read more >
By Valaree DonFrancesco on December 3, 2019
By Debbie Drell, Director of Membership My sister was diagnosed with a rare disease, pulmonary hypertension, in September of 1998. At some point during her diagnosis, she was told she wouldn’t live to see her 30th birthday. She was 28. There was one drug recently approved for her disease, and while it had serious and Read more >
By Valaree DonFrancesco on December 2, 2019
Do you have questions about gene editing and how it may advance the treatment of people with rare diseases? Much has been written lately about the promise of CRISPR and other gene-editing tools as future treatments for many rare diseases. NORD is creating a new educational video on this topic, and we want to be Read more >
By Valaree DonFrancesco on November 29, 2019
Hello! My name is Marissa and I had the privilege of joining NORD as a member of the Research Team earlier this year. Like many, my road to NORD began with a rare disease diagnosis. When I was five, I was diagnosed with Juvenile Rheumatoid Arthritis and at seven, I was diagnosed with Reflex Sympathetic Read more >
By Valaree DonFrancesco on November 22, 2019
One of the first caregivers to participate in the Rare Caregiver Respite Program, Debra shared with NORD how she used her award. “I was able to meet and have dinner with one of my Peace Corps friends. We hadn’t seen each other since we left Romania in June 2001! I think Mom enjoyed having someone Read more >
By Valaree DonFrancesco on November 20, 2019
This week, HealthDay published an article entitled “Don’t Give Up: Parents’ Intuition Spots a Rare Illness Before Doctors Do” on patients persistently advocating for their sick child although doctors were initially unable to pinpoint the condition. The article, featuring an interview with Sika Dunyoh, NORD’s Director of Education Programs, was syndicated and run by a Read more >
By Valaree DonFrancesco on November 15, 2019
NORD’s Rare Caregiver Respite Program provides eligible caregivers the opportunity to take a much-deserved break while knowing their loved one is being well cared for. Caregiver Stephanie recently answered a few quick questions about how she spent time away from caring for her daughter. How did you use your respite? Stephanie: I took a week Read more >
By Valaree DonFrancesco on November 14, 2019
At NORD, we know that patient-powered initiatives change the world.
By Valaree DonFrancesco on November 12, 2019
I attended the NORD 2019 Summit in Washington, DC a few weeks ago. It was my first chance to attend this conference organized by the National Organization for Rare Disorders and, admittedly, the first time I considered going. I had the impression that NORD was a policy and advocacy meeting (it was) with limited discussions Read more >
By Valaree DonFrancesco on November 8, 2019
My husband and I got away for a whole week! We went to a resort where we could relax by the pool and catch up on much needed sleep. To know that we had a qualified CNA taking care of our little one was such a blessing. Family offers to help but it was SO Read more >
By Valaree DonFrancesco on November 4, 2019
Did you know that November is National Family Caregivers Month? It’s a time to recognize family caregivers for their selfless devotion and dedication to supporting loved ones. NORD’s Rare Caregiver Respite Program is a first-of-its-kind assistance program that provides that well-deserved recognition, giving caregivers of rare disease patients the opportunity for a much-needed respite. NORD Read more >
By Valaree DonFrancesco on November 1, 2019
On Friday, November 1, 2019, the White House announced the nomination of Dr. Stephen Hahn, MD, as the next US Food and Drug Administration (FDA) commissioner. In response, the National Organization for Rare Disorders (NORD) offers support to the appointment of Dr. Hahn as the next FDA commissioner. Dr. Hahn will bring to FDA strong Read more >
By Valaree DonFrancesco on November 1, 2019
Patient AirLift Services (PALS) recently provided air and ground transportation for a mom and son who went through years of not knowing the cause of bone pain, fatigue, brain fog and weakness. Both were officially diagnosed in 2017, with hypophosphatasia, a metabolic bone disease. Melanie has broken multiple bones without cause or direct trauma. Jacob Read more >
By Valaree DonFrancesco on October 29, 2019
On the heels of the 2019 Rare Diseases and Orphan Products Breakthrough Summit, NORD’s Rare Action Network (RAN) Volunteer State Ambassadors made their way to Capitol Hill on October 23, 2019, to tell their stories and show their stripes. Ambassadors from 20 states met with 30 congressional offices to talk about a host of issues Read more >
By Valaree DonFrancesco on October 23, 2019
Health and Human Services Secretary Alex Azar speaking at the NORD Summit on October 22, 2019 Washington, DC, October 23, 2019–Earlier this week, the National Organization for Rare DisordersⓇ (NORD) broke previous records with its 2019 Rare Diseases & Orphan Products Breakthrough Summit, welcoming over 900 registrants to two days of unforgettable keynotes, powerful Read more >
By Valaree DonFrancesco on October 11, 2019
NORD has created a short video to help parents, pediatricians and others recognize early signs of pediatric movement disorders and know what to do if they suspect a child may have one. The video features Mered Parnes, MD, Director of the Pediatric Movement Disorders Clinic at Texas Children’s Hospital in an interview he conducted recently Read more >
By Valaree DonFrancesco on October 10, 2019
On September 5, 2019, Takeda issued a recall of NATPARA® (parathyroid hormone), due to rubber particulates originating from the rubber septum of the NATPARA cartridge. As of October 9, NATPARA® is in shortage. NORD has reached out to the Food and Drug Administration (FDA) on behalf of patients who are now not able to access Read more >
By Valaree DonFrancesco on October 10, 2019
On October 1, the first-ever Rare Cancer Day, an awareness day highlighting the challenges people living with rare cancers face and emphasizing the importance of early diagnosis, was marked by thousands nationwide. Cancer is not a singular disease but, rather, many diseases, of which several are rare. One in 5 people living with cancer in Read more >
By Valaree DonFrancesco on October 4, 2019
NORD is glad to have been able to assist you in accessing care and treatment for your rare disorder…
By Valaree DonFrancesco on October 1, 2019
Life was busy in 2010 with work, volunteering and engaging with our sons’ sports schedules. Being tired was just part of our eventful lifestyle. Consequently, when we received my diagnosis of stage IV intrahepatic cholangiocarcinoma at the age of 46, we were shocked. We believed we were investigating a possible gallbladder issue. Instead, we received Read more >
By Valaree DonFrancesco on October 1, 2019
WHAM! The news I received from my doctor was a left hook to my temple thrown by Muhammad Ali. I was just told that I had myelodysplastic syndromes (MDS). My name is Brian. It was December 2016 and my doctor at Moffitt Cancer Center in Tampa Florida, Dr. David Sallman, sat me down to explain Read more >
By Valaree DonFrancesco on October 1, 2019
Hi! I’m Susan from Philadephia. My journey began in 1991 when I visited a local dermatologist for a strange rash that didn’t go away. That day changed my life. A biopsy was taken and I was told I had a rare form of lymphoma called cutaneous T-cell, mycosis fungoides. CTCL/MF is a rare blood cancer Read more >
By Valaree DonFrancesco on October 1, 2019
This is my story about NF2. This journey began when I was 16 and got hit in the head from a volleyball. I went into a routine MRI and came out with brain and spinal tumors, which lead the doctors at the time to conclude that I would be deaf by the time I graduated Read more >
By Valaree DonFrancesco on October 1, 2019
My name is Aidan, I am 19 years old and I have NF1. I have a large tumor on my neck, which goes up into my brain and down to my lungs and my left arm. I also have a number of smaller tumors throughout my body. I was diagnosed at 8 months old, became Read more >
By Valaree DonFrancesco on October 1, 2019
My name is Lauren, I’m 23 years old and I live in Boston, MA. Two years ago, before my senior year at college, I was given the news that nobody ever wants to hear: I was told that I had a rare form of appendix cancer. Cancers and tumors of the appendix are extremely rare, Read more >
By Valaree DonFrancesco on October 1, 2019
The big day is here – Rare Cancer Day! Launched by the National Organization for Rare DisordersⓇ (NORD) and the NORD Rare Cancer Coalition™, the goal of #RareCancerDay is to raise critical awareness of rare cancers and the need for greater research funding and patient support. “I’ve never heard of that!” is often the response people Read more >
By Valaree DonFrancesco on September 27, 2019
My name is Nicole and I was diagnosed with Stage 3 sarcoma cancer in July 2017 at the age of 27. It was bizarre being diagnosed with cancer in the first place, but to be diagnosed with a cancer I had never heard of was even more odd. It took me a solid month before Read more >
By Valaree DonFrancesco on September 27, 2019
On September 26, BioNews Service published an extensive article written by reporter Larry Luxner, previewing the upcoming NORD Rare Diseases & Orphan Products Breakthrough Summit, which will be taking place October 21-22 in Washington, DC. #NORDinthenews
By Valaree DonFrancesco on September 25, 2019
NORD President and CEO Peter L. Saltonstall has some breaking news to share on the city we are taking the Living Rare, Living Stronger: NORD Patient and Family Forum to in May 2020, plus the amazing venue for the Rare Impact Awards. Get ready to rock!
By Valaree DonFrancesco on September 20, 2019
Graeleigh was diagnosed with fibrolamellar after a long battle with stomachaches. First the stomachaches started out sporadically but by the time she was diagnosed they where becoming chronic, happening almost every day. Graeleigh had her annual well child check with her pediatrician in November of 2018. Besides the usual, making sure she is getting enough Read more >
By Valaree DonFrancesco on September 19, 2019
Launched by C-Path and NORD through an FDA grant, the goal of the new platform is to accelerate the development of cures by addressing the need to better characterize rare diseases. TUCSON, Ariz. and WASHINGTON, September 19, 2019 — The Critical Path Institute (C-Path) and the National Organization for Rare Disorders® (NORD) launched Read more >
By Valaree DonFrancesco on September 16, 2019
Seven new videos have been added to the NORD Rare Disease Video Library, a unique educational resource launched earlier this summer. The library features videos on rare diseases and related topics for patients, caregivers, medical students and professionals. The seven new videos are part of a series of short, animated, disease-specific videos for patient and Read more >
By Valaree DonFrancesco on September 13, 2019
Looking back, my symptoms started as early as age 10. I lived in a heightened state of anxiety, and every day stresses seemed to become gradually more unmanageable. I didn’t know what was normal, so I just figured that was what growing up felt like. Over the next couple of years, things progressed. Along with Read more >
By Valaree DonFrancesco on September 11, 2019
NORD has released a statement on today’s House Committee on Oversight and Reform’s Subcommittee on Civil Rights and Civil Liberties hearing on the Administration’s recent revocation of medical deferred action policy and its potentially devastating impact on the rare disease community. The statement in its entirety can be read here.
By Valaree DonFrancesco on September 10, 2019
NORD’s Educational Initiatives team spoke with Jaime Tan, Central Michigan University medical student and NORD Students for Rare Chapter Leader. In this interview, Jaime talks about how he came to be involved in the rare community. For more information on NORD’s student programs, click here. Tell us a little bit about yourself! Where are you from? Read more >
By Valaree DonFrancesco on September 6, 2019
Singing has always been a big part of Mackenzie’s life. She auditioned for her school’s choir in seventh grade and continued singing throughout high school. But for a time, as Mackenzie weathered a rare cancer diagnosis, her voice faded, and it looked like she would never sing again. It started during her junior year with Read more >
By Valaree DonFrancesco on August 30, 2019
This story is my rare cancer syndrome journey. I have a rare genetic illness called PTEN hamartoma tumor syndrome, which was diagnosed in 2011 after I was diagnosed with thyroid cancer in 2009. I am also a three-time cancer survivor, surviving two melanoma surgeries. I have undergone two preventative surgeries and get colon and kidney Read more >
By Valaree DonFrancesco on August 21, 2019
Washington, DC, August 29, 2019–The National Organization for Rare DisordersⓇ (NORD) has announced a day devoted to raising awareness about rare cancers. Spearheaded by the NORD Rare Cancer Coalition™, which is comprised of 24 rare cancer-specific Member Organizations, Rare Cancer Day will be observed on October 1 to highlight the challenges people living with rare Read more >
By Valaree DonFrancesco on August 20, 2019
In a recent article published by HealthDay entitled “‘Dr. Google’ Helps Some Patients Diagnose a Rare Disease,” NORD’s Mary Dunkle notes common reasons for rare disease diagnosis delays and cautions patients and caregivers regarding online sources, recommending that people “use only trusted sources such as the U.S. National Institutes of Health, teaching hospitals and patient Read more >
By Valaree DonFrancesco on August 19, 2019
Neena Nizar, founder and president of the nonprofit Jansen’s Foundation, a NORD Member, was interviewed at the Living Rare, Living Stronger NORD Patient and Family Forum by BioNews Service in June. Read her inspiring personal story here. #NORDinthenews
By Valaree DonFrancesco on July 1, 2019
NORD’s Hurricane Emergency Relief Fund provides limited financial assistance to those with a rare disease who are victims of natural disasters. Emergency relief funds may be requested once per household/per lifetime for up to $500. Expenses that may be covered under this award: Unexpected utility costs, such as those caused by severe weather Physician prescribed Read more >
By Valaree DonFrancesco on May 10, 2019
Living Rare, Living Stronger will bring the rare community together with physicians, medical students, and allied health professionals for a program of learning, sharing and connecting.
By Valaree DonFrancesco on March 19, 2019
In recent years, NORD has provided Patient Assistance Programs to assist the Chronic Granulomatous Disease (CGD), Cystinosis and Urea Cycle Disorders (UCD) communities. As of Monday, March 18, we are delighted to announce an expansion to the support we are able to provide to these communities. See below for information on each of the three expanded Read more >
By Valaree DonFrancesco on January 3, 2019
Washington, D.C., January 3, 2019 – Today, the National Organization for Rare Disorders (NORD) announced the completion of extensive additions and improvements to its Rare Disease Database, which serves as a valuable resource for patients, families and caregivers in need of easy-to-understand information about rare diseases. The enhancements to the database and to the NORD Read more >
By Valaree DonFrancesco on December 17, 2018
This June in Houston, Texas, the 2019 Living Rare, Living Stronger | NORD Patient & Family Forum will bring the rare community together with physicians, medical students and allied health professionals for a program of learning, sharing and connection – in an atmosphere of support and understanding – plus fun! This year will be the Read more >
By Valaree DonFrancesco on November 29, 2018
Washington, DC, November 29, 2018–As part of its ongoing series to promote awareness and education regarding rare diseases, the National Organization for Rare Disorders (NORD) has published a report on Post-Transplant Lymphoproliferative Disease (PTLD) in its Rare Disease Database. This new resource is available free online to individuals around the world. As the primary advocacy Read more >
By Valaree DonFrancesco on October 18, 2018
Washington, D.C., October 18, 2018— Despite a record-breaking number of new approvals, orphan drugs remain a nominal part of overall drug spending, accounting for only 9.6% of total sales in the U.S. in 2017, according to a new study released today by the IQVIA Institute. The study was commissioned by the National Organization for Rare Disorders Read more >
By Valaree DonFrancesco on October 3, 2018
Listen to recent comments from Janet Woodcock, Director CDER, FDA on NORD and the importance of natural history registries for rare disorders.
By Valaree DonFrancesco on September 25, 2018
Washington, D.C., September 25, 2018 – The National Organization for Rare Disorders (NORD) announced today it is enhancing its Rare Disease Database which serves as a valuable source of information for patients, families and caregivers in need of easy to understand language on rare diseases that are frequently misdiagnosed or undiagnosed. The enhancements to the Read more >
By Valaree DonFrancesco on September 11, 2018
Washington, D.C., September 11, 2018—The National Organization for Rare Disorders (NORD), the leading independent nonprofit organization representing the 30 million Americans with rare diseases, has announced the addition of ten new rare disease registries, made possible through a multi-year grant award from Shire. NORD’s IAMRARETM Registry Program provides a web-based tool to collect patient experience Read more >
By Valaree DonFrancesco on September 5, 2018
One of the unique aspects of the 2018 NORD Rare Diseases & Orphan Products Breakthrough Summit is its theme, “A New Era of Patient-Focused Innovation,” which we will be examining from a variety of perspectives. Kicking off the Summit will be the Patient/Caregiver Opening Address featuring a panel of young rare disease patient advocates sharing their hopes, thoughts Read more >
By Valaree DonFrancesco on August 15, 2018
Washington, D.C., August 15, 2018 – The National Organization for Rare Disorders (NORD), the leading independent nonprofit organization representing the 30 million Americans with rare diseases, and Healthline Media, the second largest health information site with 90 million monthly visitors, have announced the recipients of the 2018 Healthline and NORD Stronger Scholarships. The program’s goal Read more >
By Valaree DonFrancesco on July 9, 2018
The Joshua Frase Foundation (JFF) is a non-profit organization founded with a simple yet seemingly unattainable vision: to find a cure for Myotubular Myopathy (MTM). The journey towards a cure started the day Joshua Frase was born with a disease so rare that he was said to be only one of fifty five known cases Read more >
By Valaree DonFrancesco on July 2, 2018
Earlier this month, Jill Pollander joined NORD as Director of Patient Services. Jill has a B.S. in Nursing from Northeastern University and a M.S. in Nursing from University of Phoenix. She brings a great breadth of experience in healthcare to NORD, including working as an emergency room nurse and in long-term care, establishing a Licensed Read more >
By Valaree DonFrancesco on June 20, 2018
*The following article ran 6/19/2018 via Pennsylvania Legislative Services, an online legislative research, tracking, media, and analysis service providing access to Pennsylvania’s policy making process. SUPPORTERS, LAWMAKERS CELEBRATE RARE DISEASE AWARENESS DAY By Derek Snyder, Pennsylvania Legislative Services | June 19, 2018 Dozens of advocates joined in the Capitol this morning to support PA National Rare Read more >
By Valaree DonFrancesco on June 15, 2018
Washington, D.C., June 15, 2018—On Wednesday, staff from the National Organization for Rare Disorders (NORD) met with Health and Human Services (HHS) Secretary Alex Azar to discuss the needs of rare disease patients. The meeting covered orphan drug innovation, growing patient involvement at the Food and Drug Administration (FDA), and the mounting challenges of access to Read more >
By Valaree DonFrancesco on May 29, 2018
Washington, D.C., May 30, 2018—The National Organization for Rare Disorders (NORD) today launched RareInsights™, its new initiative to expand public knowledge of rare diseases and translate that knowledge into real-world solutions for patients and families, and kicked off the program with the infographic 5 Myths About Orphan Drugs and the Orphan Drug Act. “At NORD, Read more >
By Valaree DonFrancesco on May 24, 2018
All U.S. and international researchers are encouraged to apply by the initial application deadline of July 16, 2018
By Valaree DonFrancesco on May 15, 2018
The National Organization for Rare Disorders (NORD) today issued the following statement in response to American Patients First, the Trump Administration Blueprint to Lower Drug Prices and Reduce Out-of-Pocket Costs: Patients with rare diseases are frequently disproportionately affected by high drug prices. Rare diseases tend to be chronic and medications can be needed for the Read more >
By Valaree DonFrancesco on May 4, 2018
For 35 years, NORD has been leading the fight to improve the lives of patients and families with rare diseases. We do this by supporting patients and organizations, accelerating research, providing education, disseminating information, raising public awareness, and driving public policy. The following are 35 examples of how NORD provides service to all of the Read more >
By Valaree DonFrancesco on April 12, 2018
Washington, D.C., April 12, 2018—The National Organization for Rare Disorders (NORD) has announced the latest news regarding the upcoming 35th Anniversary Celebration presenting the Rare Impact Awards on May 17 in Washington, D.C. Master of Ceremonies, Patricia Richardson Emmy Award nominated actress Patricia Richardson will join us as our Master of Ceremonies. Patricia has long been part Read more >
By Valaree DonFrancesco on April 11, 2018
Washington, D.C., April 11, 2018 – The National Organization for Rare Disorders (NORD), the leading independent nonprofit organization representing the 30 million Americans with rare diseases, released the following statement regarding Governor Matt Bevin’s Veto of SB 7, the Kentucky Rare Disease Advisory Council: “Last week, Kentucky Governor Matt Bevin vetoed Senate Bill 7, legislation that Read more >
By Valaree DonFrancesco on March 27, 2018
Parsippany – March 26, 2018 – The 2018 Rare Neurological Disease Special Report has been published by Neurology Reviews in collaboration with NORD, the National Organization for Rare Disorders, the leading independent nonprofit representing the 30 million Americans with rare diseases. Neurology Reviews is pleased to provide the most current information and news about rare neurological diseases. The 4th annual edition Read more >
By Valaree DonFrancesco on March 2, 2018
*The following is a a guest blog posting by NORD’s Director of Research Programs, Vanessa Boulanger, originally published 2/28/18 on PCORI.org at https://www.pcori.org/blog/changing-landscape-rare-disease-research?utm_source=general` A rare disease, by definition, affects fewer than 200,000 individuals in the United States. Up to 30 million Americans have a rare disease, and most conditions are poorly understood. The National Organization Read more >
By Valaree DonFrancesco on February 24, 2018
Washington, D.C., February 26, 2018—The National Organization for Rare Disorders (NORD), the leading independent nonprofit organization representing the 30 million Americans with rare diseases, last week joined 125 rare disease patient organizations in sending a letter to Medicaid Directors all across the country highlighting the importance of Medicaid formulary access for rare disease patients. With Read more >
By Valaree DonFrancesco on February 13, 2018
Washington, D.C., February 13, 2018—The National Organization for Rare Disorders (NORD), the leading independent nonprofit organization representing the 30 million Americans with rare diseases, today followed up on the recent coalition letter emphasizing the patient and provider community’s opposition to the Right to Try Act (H.R.878 and S.204) with a one-pager which distills why the Right to Try Act simply Read more >
By Valaree DonFrancesco on February 8, 2018
Washington, D.C., February 8, 2018—The National Organization for Rare Disorders (NORD), the leading independent nonprofit organization representing the 30 million Americans with rare diseases, issued the following statement regarding recent state proposals to alter their Medicaid program by utilizing the federal 1115 Waiver process: “In an attempt to control health care costs and improve services Read more >
By Valaree DonFrancesco on February 6, 2018
Washington, D.C., February 6, 2018—The National Organization for Rare Disorders (NORD), the leading independent nonprofit organization representing the 30 million Americans with rare diseases, today joined 37 patient and provider organizations in sending a letter to the House of Representatives in opposition to the Right to Try Act. NORD supports all patients with serious and life-threatening diseases Read more >
By Valaree DonFrancesco on January 26, 2018
Washington, D.C., January 26, 2018—The National Organization for Rare Disorders (NORD), the leading independent nonprofit organization representing the 30 million Americans with rare diseases, issued the following statement on the confirmation by the U.S. Senate of Alex Azar, as Secretary of the Department of Health and Human Services (HHS): “We at the National Organization for Rare Disorders look Read more >
By Valaree DonFrancesco on January 16, 2018
THE NATIONAL ORGANIZATION FOR RARE DISORDERS (NORD) LAUNCHES 7,000 MILE RARE MOVEMENT CHALLENGING AMERICANS TO CHART 7,000 MILES DURING MONTH OF FEBRUARY Americans to walk, bike or run 7,000 miles during February bringing awareness to 7,000 rare diseases affecting 30 million Americans Danbury, Conn., Jan. 16, 2018— The National Organization for Rare Disorders (NORD)®, the Read more >
By Valaree DonFrancesco on January 5, 2018
Washington, D.C. – January 5, 2018 – today, NORD sent the following letter to Majority Leader Mitch McConnell and Minority Leader Chuck Schumer in support of Alex Azar’s candidacy for Secretary of the Department of Health and Human Services (HHS): Dear Senators, On behalf of the National Organization for Rare Disorders (NORD), which represents the 30 million Americans with a rare disease, I am writing Read more >
