Rare Disease Day and the Spotlight on NORD Member Organizations

Posted April 4, 2022 by NORD

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Rare Disease Day Recap

Rare Disease Day took place on February, 28, 2022 and successfully raised awareness for the 7,000+ rare diseases that impact over 300 million people globally. NORD is proud to partner with EURORDIS (Rare Diseases – Europe) and others all around the world to drive an international campaign that shines a light on rare diseases and advocates for health equity for all those living with a rare disease.

“Achieving health equity is even more difficult for rare patients. To have equity and health means everyone has the opportunity to be as healthy as possible regardless of social, geographic, economic, or other obstacles that may be working against them,” said Peter Saltonstall, President and CEO, NORD.

to so many NORD supporters, NORD staff and volunteers continue to make a difference for rare disease communities and help NORD to drive health equity forward. The Rare Action Network (RAN) helps volunteers connect with rare individuals and families in their states across the country and raise important issues with state lawmakers on Rare Disease Day and throughout the year.

NORD’s sponsors, media partners, and supporters enable the organization to advance programs to achieve health equity for rare disease families on Rare Disease Day and throughout the year. You can help NORD advance health equity initiatives by supporting their programs and services here.

NORD promoted Rare Disease Day activities, ways to get involved, and the virtual Rare Disease Day event throughout the month of February.

Rare Disease States and NORD Member Organization Highlights

New this year, rare disease educational highlights were featured on NORD’s social media channels that included a rare disease name, scientific definitions, prevalence of disease, the related NORD member organizations, and a project/initiative highlight from the member organizations. While our marketing and communications efforts for Rare Disease Day activities took precedent and are vital for having the rare disease community participate, NORD recognized the importance of defining and understanding some of its members’ rare diseases and highlighted projects currently being pursued at the affiliated organizations.

Below you will find each rare disease/member organization highlight. We hope that you learn some new facts and statistics about rare diseases that you did not know before!

  1. Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)
    • Definition: A rare neurological disease characterized by slowly progressive cerebellar ataxia (lack of control of the movements) and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most patients. Learn more.
    • Prevalence: There are about 100 individuals worldwide who have been identified with the disorder. Learn more.
    • Learn more about member organization: A Cure for Ellie
    • Organization highlight: Clinical Trial for LBSL at Kennedy Krieger Institute
    • A Cure for Ellie was a 2021 CZI Rare As One recipient.
  1. CACNA1A
    • Definition: CAlcium voltage-gated ChaNnel subunit Alpha 1A’ which is a description of the protein coded for by the gene. Mutations in CACNA1A cause several neurological phenotypes (observable characteristics or traits). Learn more.
    • Prevalence: The number of CAG repeats in this gene ranges from 4 to 18 for most people. Learn more.
    • Learn more about member organization: CACNA1A Foundation
    • Organization highlight: CACNA1A + -X Data Collection Program
    • CACNA1A Foundation was a 2021 CZI Rare As One recipient.
  1. VCP Disease
    • Definition: A rare, adult-onset, neuromuscular disease caused by any one of several possible variants in a gene called Valosin Containing Protein (VCP or p97). The clinical features typically include one or a combination of the following: myopathy, early–onset Paget’s disease of bone, and premature frontotemporal dementia. Learn more.
    • Prevalence: Approximately 12% of patients are affected with all three features listed above, 50% of affected people have two of the features, 30% have apparently isolated myopathy, and 8% have apparently isolated PDB or FTD. Learn more.
    • Learn more about member organization: CureVCP Disease.
    • Organization highlight: Natural History Study with Nationwide Children’s Hospital RARE
    • CureVCP Disease was a 2021 CZI Rare As One recipient.
  1. SCN2A
    • Definition: Located on the long (q) arm of chromosome 2 at position 24.3 the SCN2A is sodium channel, voltage gated, type II alpha subunit. This gene has been identified to cause autism, epilepsy and other neurological issues like dystonia and dysautonomia when there is a deletion or mutation of this gene. Learn more.
    • Prevalence: About 200 people in the world with changes in the SCN2A gene have been described in medical research. Learn more.
    • Learn more about member organization: FamilieSCN2A Foundation
    • Organization highlight: SCN2A Clinical Trial Readiness Study (CTRS)
    • FamiliesSCN2A Foundation was a 2021 CZI Rare As One recipient.
  1. Sarcoidosis
  1. Primary Ciliary Dyskinesia (PCD)
    • Definition: Primary ciliary dyskinesia is an umbrella term for inherited (genetic) disorders of microscopic, whip-like organelles (little organs) called cilia that line the upper and lower respiratory tract including nasal passages, sinuses and lung, and eustachian tubes of the ear, the reproductive organs, and the ventricles of the brain. Learn more.
    • Prevalence: Estimated prevalence of PCD is 1:10,000 to 1:20,000 live-born children, but true prevalence could be even higher. Learn more.
    • Learn more about member organization: PCD Foundation
    • Organization highlight: PCDF Research Forum: Efficacy and Safety of Azithromycin Maintenance Therapy in Primary Ciliary Dyskinesia
    • PCD Foundation was a 2021 CZI Rare As One recipient.
  1. Progressive Familial Intrahepatic Cholestasis (PFIC)
  1. Recurrent Respiratory Papillomatosis
  1. Smith-Kingsmore Syndrome
  1. Tatton Brown Rahman Syndrome (TBRS)
    • Definition: Caused by pathogenic variants (previously called mutations) in the DNMT3A gene and for that reason it is also called DNMT3A Overgrowth Syndrome. Individuals with TBRS have overgrowth, tall stature, increased weight, and large head circumference (also known as macrocephaly), mild to severe intellectual disability, and subtle but distinctive facial characteristics. Learn more.
    • Prevalence: Roughly 250 people have been diagnosed with TBRS. Learn more.
    • Learn more about member organization: Tatton Brown Rahman Syndrome Community
    • Organization highlight: TBRS Community Patient Registry
    • Tatton Brown Rahman Syndrome Community was a 2021 CZI Rare As One recipient.
  1. Telomore Biology Disorders
    • Definition: Heterogeneous group of diseases arising from germline mutations affecting genes involved in telomere maintenance. Telomeres are DNA-protein structures at chromosome ends that maintain chromosome stability; their length affects cell replicative potential and senescence. Learn more.
    • Prevalence: Telomere syndromes are diagnosed in patients who have symptoms associated with the condition and who have abnormally short telomere length. In 20-60% of patients, a genetic change (mutation) in a gene associated with telomere syndromes may be identified. Learn more.
    • Learn more about member organization: Team Telomore
    • Organization highlight: Camp Sunshine – Retreat for families impacted by Telomere Biology Disorders
    • Team Telomore was a 2021 CZI Rare As One recipient.
  1. Sickle Cell Disease
    • Definition: Inherited blood disorder that affects red blood cells. People with sickle cell disease have red blood cells that contain mostly hemoglobin S, an abnormal type of hemoglobin. Sometimes these red blood cells become sickle-shaped (crescent shaped) and have difficulty passing through small blood vessels. Learn more.
    • Prevalence: It affects approximately 100,000 Americans and occurs among about 1 out of every 365 Black or African American births. Learn more.
    • Learn more about member organization: Sickle Cell Disease Association of America
    • Organization highlight: O.W.E.R ECHO Project Community Health Worker (CHW) Training
  1. Congenital Hyperinsulinism