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Feb. 28, 2018

TOPIC: Featured News, Medical, Patients & Members, Press Releases

NORD to Collaborate with FDA on Pilot Patient Engagement Activity

Posted by Christina Jensen

Listening Sessions to Enable Sharing Rare Disease Experiences with FDA Review Divisions

Washington, D.C., February 28, 2018—The National Organization for Rare Disorders (NORD), the leading independent nonprofit organization representing the 30 million Americans with rare diseases, has announced a collaboration with the Food and Drug Administration (FDA) on a pilot project that would help FDA medical reviewers better understand patient experiences with their rare diseases.

“We at the National Organization for Rare Disorders are excited about this effort to bring the rare disease patient perspective directly to FDA medical reviewers,” said Peter L. Saltonstall, president and CEO of NORD. “These listening sessions will provide FDA review division staff with better insight into what is important to patients in managing their diseases and improving their quality of life.

“Our goal is to facilitate the patient’s voice being heard more directly in the regulatory decision-making process, an invaluable opportunity for the rare disease community as a whole to advance medical research and new product approvals,” Saltonstall said. “It is important for FDA to understand, from the patient perspective, disease burden, management of symptoms, daily impact on quality of life, and patients’ risk tolerance. Patients and caregivers bring a pragmatic, realistic perspective about what they are willing to deal with in terms of potential risks and benefits for new therapies.”

The FDA and NORD will work together in identifying patient community representatives and coordinating listening sessions where patients can share their experiences with FDA review division staff. At the request of review divisions, the listening sessions will be organized through the FDA’s Patient Affairs Staff (PAS) in collaboration with NORD. PAS will work with the review division to draft questions for the patients, and work with NORD to facilitate the discussion between the requesting review division and the patient community.

The FDA has instituted a number of programs to bring the patient perspective to the product review process, consistent with legislation enacted by Congress and advanced by NORD.

There are 7,000 rare diseases that affect 200,000 or fewer Americans. The vast majority still have no treatment.

25 Responses to “NORD to Collaborate with FDA on Pilot Patient Engagement Activity”

  1. Linda Batewell says:

    My son has Reflex systematic dystrophy. Is this on your list?
    I understand there is do cure and this disease is progressive. He is currently in stage two. Looking for help. Thank you, Linda

  2. Carol Jean Sovey says:

    Thank you for sharing Our painful chronic world the EDS community constantly Fights to control.
    Please let people know that there are chronic medical conditions that cause debilitating pain and we have managed with opiates and other medical modalities.We should not be treated as criminals or punished for a condition that we have no control over

  3. I am interested in learning more and perhaps being a part of this.

    Thank you

  4. I am an Infusion RN. The patients I treat ALL have rare diseases/disorders. How will the patients, who participate in the Patient Engagement Activity, be chosen?

  5. Christina Hutchings says:

    I have two rare diseases. I pioneered Quality of Life and Cost Effectiveness measurements in RCTs, randomized clinical trials in the 1980s. I have conducted research in 20+ countries. I earned MBA at Wharton in Marketing and Health Care Administration. Could be a good fit. With regards, C. Hutchings, Principal, Caldwell & Company. “Values-Based Health Care Research Since 1981”.

  6. This is a marvelous opportunity to bring patients and FDA folks together. If I can help the autoimmune hepatitis community please let me know how. The AIHA is committed to patient involvement.

  7. diane white says:

    good news—-erythromelagia is my neurovascular disease, and it has brought my life to its knees….lifestyle management is constant and inevitably life is diminished at best…pain management is trial-and-error and success w/ medications varies from person to person, often with mild relief only …..thanks for your efforts—

  8. Kathleen Schmaltz says:

    Do you know where these listening sessions will be held? I’d like to participate, but am moving to the Bay Area from CT. Will a focus be funding for research projects?

  9. Dorothea Kroeker says:

    Interested on behalf of Alpha 1 Antitrypsin Disease

  10. Cynthia L Schneid says:

    How does one become selected to have their voice heard. As one who has a rare disease, founded a support group for said disease, and has worked with community assets to assist low income and uninsured residents with said disease to secure treatment necessities, I feel qualified to give voice and listen to others to learn.

  11. Dorothy Smith says:

    I have NF1 I don’t know much about about it.

  12. Deborah Weston says:

    I am interested in learning more about pernicious anemia … I was diagnosed in my early 30’s.

  13. RONALD E. COLBY says:

    It is about time that someone listens to people with rare diseases, and what we go though every day!! Let me know if there is anything I can do to help.

  14. Erika Lavoie says:

    I would like to partake in this study. I have chronic rare disease

  15. John D Mozer says:

    I have sporadic Inclusion Body Myositis (diagnosed in December 2006) and would be willing to participate in a Listening Session with the FDA.

  16. Paul Kleutghen says:

    I am a patient with a ‘rare disease’ (primary plasma cell leukemia – probably less than 300 patients in the US). I wonder whether the future ‘patient listening session’ will be overwhelmed with patients showing up with the net result that many patients will NOT be heard at all. Will it be possible to also answer questions in writing over secure internet connection that will allow responses to then be amalgamated either by disease and/or by drug(s) used ? I feel that NORD/FDA will end up with a larger data base of responses then. Please don’t forget to add in a question about the ‘cost of treatment’ for our rare disease(s) and how the cost is impacting our treatment plan and quality of life. Maybe that will give NIH some impetus to negotiate ‘reasonable cost’ deals with the Pharma industry (since most of the innovation in rare diseases originates at NIH) – taxpayers should get some protection on their investment into NIH.

  17. Mary Janisse Gass says:

    I am very grateful for NORD because if not for meeting two special people, I would not have been able to address North Carolina to recognize this special day today, fingers crossed for 2019🌞

  18. Donna Spas says:

    NET carcinoid cancer
    Sign me up please

  19. I would love to be considered to be a part of these listening sessions. Please contact me to let me know if there is an application process or a recommendation process.

  20. Karl Evans says:

    I want to be involved in this. My story is now up and available on the above site. I have at least one rare disease, hATTRwt, which includes a group of others.

  21. Kathleen Accola says:

    Brown-Sequard Syndrome from a T10-11 incomplete SCI causes instability, pain, numbness, impaired proprioception and muscle spasms. Greatly Decreases quality of life.

  22. I am thrilled at this possibility as my disease is very limited in most studies and treatment discussions.

  23. Jody Rule says:

    This is great progress for us with rare diseases. I live with Stiff Persons Syndrome.

  24. Janice brooks says:

    I have polymyositis. Would like info on this and where my body could be used for research.

  25. Paula Wold says:


    Many people have no idea what gastroparesis is or how it affects those who live with it. I hope this raises awareness and sheds some light on what it’s like to live with dysmotility.

    Gastroparesis is a chronic illness and many times fatal disease. Many articles online have been written (and still remain) when it was first given a name. At that time the medical field thought it was something that would progressively resolve with diet change. Unfortunately, gastroparesis doesn’t have a cure. I pray my health will improve one day, but I’m 99 percent certain I’ll be dealing with GP for the rest of my life.

    I was diagnosed 4 years ago, however I had problems feeling full and hot at night when sleeping if I ate a normal meal past 4:00 p.m. Then it hit full blown in 2014 after several other medical issues and surgeries. Then my flares have only worsened over time. Severe flares will come and go, so I do experience small periods of time when my symptoms are slightly better. Even still, gastroparesis is unpredictable. I never know when the next severe flare will hit and how bad it will be.

    Just because I don’t look sick doesn’t mean I’m healthy or cured.

    Gastroparesis is an invisible illness. You can’t tell I’m sick just by looking at me. I personally don’t use a wheelchair, but maybe a cane due to weakness and fatigue. I don’t have a feeding tube at the moment (although many with gastroparesis do, but they’re not always visible.) Except for my low weight, I look healthy. My weight fluctuates a 3-10 lbs depending on severity at time. I can gain a few pounds then lose again when nausea is very extreme. It seems it is extreme most of time.

    I experience constant nausea, sometimes bloating, feeling full for long time, abdominal pain, fatigue, brain fog, weakness, and at times dehydration and malnourishment. Even when I smile and laugh, I’m still experiencing these symptoms. Gastroparesis is invisible, but it’s always there.

    I didn’t choose to have gastroparesis. I make myself eat small meals frequently and when I am severe I drink liquids for meals. The diet is very limiting and what is tolerable is different for each person.

    I experience nausea and stomach pains around the clock. I want, more than anything, to eat food like a normal people. In my case I do not have an appetite and feel full a long time. Some food taste good when I eat it; even with nausea, and I have to be careful to not put too much in stomach.

    However, my body doesn’t allow me to do this. I’m constantly nauseous with pain. Think of it like a stomach virus everyday; forever. My body fights back against every bite I take, every sip I drink and swallow. Who wants that life. My “normal” is very different than a healthy person’s “normal.”

    When I tell people I am having a little better day, friends and family will get so excited. They will say “you are getting better” But it’s also typical for people to think I will get healthy again or cured. The reality is, when I’m a little better at that time, it could change two hours later. This disease is always evolving. I have come up with my own protocol, because every patient experiences some symptoms in a different way. Plus, doctors just do not know much and most are not willing to research to learn. I push myself to do some normal things when I can. It is hard when people socialize around food. It is hard to see people post their fun activities, recipes, and their recent good meals on FB. I am happy for them, though.

    But even if my symptoms do not show; they’re always present. I am not able to get out of the house or bed as often, organized exercise, travel and be more social, I can’t eat normally; although I try sometimes. Some days I can eat a bite of normal food; next time, not. I still feel tired all the time. My “normal” is not a healthy person’s “normal. It’s important for people to understand the difference.

    I feel awful that I’m unreliable and I can not confirm plans. I have to wait until the day. The only exception is if going to the doctor.

    I hate letting people down. I know how frustrating it is when someone cancels last minute, so I try not to make many plans. It’s not that I don’t want to be with people. It’s not that I don’t value my friends. It’s literally that I’m experiencing so much pain, nausea and fatigue that I can’t leave the house. When I do go out, I wear a mask, because if I get a virus or bacteria infection, it can dangerous for me.

    Gatherings that revolve around food can be awkward for me.
    I use to be a home chef. I lived to eat; now I eat to live.

    You know what makes those situations even more uncomfortable? When people do not ask “What can you eat?” and someone has said, “That’s all you’re going to eat?”

    Just ask what can I handle. It doesn’t bother me that I can’t eat everything you eat…Well, I guess it really does! I see things I use to love. I use to be a person who created healthy recipes, made old recipes healthier and planned events. Now the healthy foods make me sick. But when people start drawing attention to the food I eat or how little I’m eating — and not in a curious, genuine “I’d like to know more about gastroparesis” but being insensitive and impatient way; that’s when I get uncomfortable.

    Peoples like to say their advice are going to cure me. Friends will say becoming vegan, cutting out gluten, taking a specific vitamin or seeing a chiropractor
    I appreciate it when people are eager to help, I really do. But I can assure you, it will not cure me. I did so much done research into my condition, and I’ve tried just about everything — medical and holistic — to try to ease my symptoms. There is no cure. And the medications or treatments that can help ease my symptoms? They do not work for me. People usually have good intentions, but they just do do not understand and do not seem to want to really understand. Most family and friends act like they understand and were supportive to begin with. However, they eventually forgot me and went on with their lives. They have never understood the seriousness of the disease. They do not want to really understand. I am told constantly, that I do not pray enough or have enough trust in God.

    Even on my a little better days, I have to use my spoons wisely.

    Spoons are a disability metaphor used to explain the reduced amount of energy available for daily activities and tasks that result from disability or chronic illness. Spoons are a unit of measurement used to track how much energy a person has throughout the day. Most healthy people have an unlimited number of spoons each day and unlimited energy to do whatever they desire.

    People with a disability or chronic illness, however, have a limited number of spoons, and they need to use them wisely. Every single daily activity and task requires a spoon. The number of spoons I have varies and it can determine what I can accomplish every day.

    Having a chronic illness can be so lonely, especially when everyone goes about their lives, and I’m stuck in my house for days on end. I know people are busy and have their own lives, but phone calls and visits to check in can change my day for the better. It would be such a nice feeling to know that friends and family care.

    I appreciate life more than I did have before getting sick. I pray for one month to be normal.

    GP has helped me understand how fragile, uncertain and wonderful life is. Before I got sick, I took things like eating meals, exercising, staying out late and traveling, for granted. Now, I so grateful for every single moment I’m given, although it is hard to think about this nausea and pain for as long as I have left to live. Distractions sometimes help. Going anywhere when up to it, and taking a walk, all bring tears to my eyes, because I am normally too sick to do any of those things. I am grateful for a better day.