As difficult as it is to have a rare disease, not having a diagnosis is even worse. We’ve blogged before about the fascinating work of the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH), whose goal is to provide answers to patients with mysterious conditions that have long eluded diagnosis and to advance medical knowledge about both rare and common diseases.

A clinic of last resort
A long-term medical issue that has eluded diagnosis by physicians is considered undiagnosed, and thousands of desperate patients have applied to the UDP. Of the applicants to the program, only a very small number are invited to proceed. A CBS news piece shares the moving stories of four people in the program. The UDP’s director, William Gahl, MD, PhD, notes that he reviews every application and talks about how difficult it is to decide who to accept.

Last year, the UDP stopped accepting patient applications in order to catch up with a backlog, but they are now evaluating new cases. The 4-year-old program has seen about 500 patients and has succeeded in making a full diagnosis of a genetic disease for about 10% of patients and a partial diagnosis for about 30%. According to this study, the Undiagnosed Diseases Program has enabled the discovery of several new diseases and disease mechanisms.

New funding
In July the NIH announced approximately $145 million in new funding over the next several years for the UDP. This money will allow the program to expand to five or six other sites where researchers will learn the UDP’s methods. These additional sites will allow more patients to be evaluated. Currently, about 150 patients are seen each year at the NIH in Bethesda, Maryland.

According to the NIH press release, “… UDP will test whether this type of cross-disciplinary approach to disease diagnosis is feasible to implement in academic medical centers around the country. It will promote the use of genomic data in disease diagnosis and will engage basic researchers to identify the underlying mechanisms so that therapies may be rapidly identified. The program will also train clinicians in the use of contemporary genomic approaches so that these methods can be used to fight other diseases.”

In the video below, Dr. Gahl gives a TEDx talk in which he reviews a few patient stories, as well as the challenges facing pharmaceutical companies, physicians and the FDA in relation to ultra rare diseases. Near the end of the video, Dr. Gahl says, “People in the rare disease community want to be protected, but they don’t want to be protected to death.”

23 thoughts on “Undiagnosed Diseases Program Accepting New Patients”

  1. Linda Hoornaert says:

    Dr. Gahl’s pain should be felt by us all, it brought me to tears. For the undiagnosed individuals, he and the UDP is the last hope to save lives. We must contribute what we can to assist in his quest to help all of the “Piper’s” in this country. If you don’t have any ideas yet, just keep thinking about it. Sooner or later a bright idea or two might come to mind, then you will be doing a part in saving lives too. What could be better than that? Nothing!

  2. Krystyna says:

    I have been sick for 20 years now. It all started when I turned 30. I have had really bad nausea, almost constant, and lots of belly pain. Now I’m being told that the problem with my belly is putting way to much pressure on my heart and if it doesn’t get figured out soon, then my heart will give out. It’s already caused me to have 2 heart attacks. I would appreciate any advice you can give me. Thank you. Krystyna

  3. Suzanne Byington says:

    Why is it that we don’t see more donations to this cause? There are so many that can be helped. This cause will help the medical science progress toward helping not just those afflicted, but other patients for generations. What is learned from this research can benefit the world.

    It has always amazed me why this problem does not get the attention, backing and funding it should.

  4. Julie J says:

    My 22 year old son was denied acceptance to the NIH UDP. He hasn’t been sick as long as some and I’m not saying he’s worse off than others. With that being said, I have taken him to all the specialists I could on the West Coast of Florida. Then the Cleveland Clinic by Miami. the University of Miami and now he goes to Mayo Clinic in Jacksonville. In the last 3 years he has seen nearly 30 Dr’s! He had to drop out of college because his memory is gone. He goes temporarily blind, has extreme fatigue, pain, balance problems, excess weight loss, the list goes on and on. Before becoming sick he was NEVER sick! Okay, not never but colds don’t really count. We are definitely going to apply again, we are completely lost.

  5. Pam R says:

    I am extremely disappointed in the UDP. My son has been extremely sick for 3 years and has been to every doctor, etc and cannot go to college. He cannot function in everyday life. He was denied acceptance as well. From the letter I received from NIH, I would have to say that since my son’s illness does not appear to meet the “Goals” of the NIH program, he was denied. I do not feel, in my opinion, that the program is to “help” patients but meet the self interest of another government agency. I am devastated with their response.

  6. Zuleyma says:

    A couple of years ago my sister had what we thought was a pimple, this time she decided not to pop it so she wouldn’t end up with a scar on her face. Days went by and still nothing had change within week the bump started spreading, since then her face hasnt been the same whatever it is, its causing her inside cheek tissue and muscle dissolve. If it wasn’t enough she’s getting other bumps on other parts of her face. She has been seen by a couple of specialist even had to be hospitalized yet no one has been able to tell us what is. I’m just praying and hoping that one day (soon) someone can help her. It has been hard on her but mostly my mother cause she just wants to know what’s wrong.

  7. Dr. J. Ajith says:

    Specialist evaluation of undiagnosed cases is available in case any patients still need it. Kindly visit indiamedic.in. Overseas consultations can be provided by video/voice.

  8. My daughter has been ill for 8 years now with an unknown cause and I have been trying to find a doctor to help diagnose her. The doctor took her out of physical education in 6th grade and told her her bones wold brake if she fell, then thyroid problems, diabetes, and now her kidneys and uncontrollable infections. Please can someone help us. I almost lost my daughter to weeks ago

  9. Danielle says:

    Help me please. I have been I’ll for 14 years now. They can’t find what’s wrong with me. I have been on so many treatments I’m exhausted. Is there a Dr that can just take the time to do research and help me

  10. Erica says:

    I fully understand being long undiagnosed and miss diagnosed (21yrs w a Congenital genetic disorder most are dx’s by 10 w and is a life threatening dx so early diagnosis is of essence.) the hurt and hardship of long delay or in many of your cases not yet a diagnosis.

    This said 1. I participate on a Running Team (as a Patient Partner) w Running for Rare Diseases which all funds we Pt Partners and the Runners raise goes to UDP. This program was started actually through the Running4Rare Team about 9ish yrs ago. http://www.running4rare.org

    2nd UDN is not a Govt’s’s program, it is supported by the grants like above but it was started by the RfRD runners, supported by Genzyme BioTech for its 1st 6-7yrs and then taken over/sponsored by NORD (National Organization For Rare Disorders).

    From 1 fellow (very rare) Pt to another plz don’t give up seeing answers. Remember “when you hear hoof beats think Unicorns.”

  11. I have a condition it’s similar to what I found online “people alergic to me”
    There is over 10’000 people with this condition and no help. It is real! It is real and I make people itch or cough.
    I do not have to come in contact with someone, just within a few yards.
    I believe my body is releasing some form of ions or similar. Kinda like some form of ion exchange.
    You look up” people alergic to me”.
    It’s around the globe, but not one doctor will take this serious.
    I am hoping some day someone will listen and help us find out what this is.
    I am very normal and have had this for 5 months now. Some have had this alot longer than I have.
    PEOPLE ALERGIC TO ME

  12. Holly Hodges says:

    I’m having a similar problem, born at 24 weeks, bone did not develop in my ankles, one day sitting on the couch knee went out ..week later thyroid..hasimotos disease..high blood pressure..cholesterol..then kidney failure and diabetes..visit hospital dropped 30lbs of water on the floor ! Within two weeks I gained 100 lbs! 10 pants sizes and 2 shirt sizes. Now water is leaking from my stomach and upper abdomen pain, swelling, CT clear. Next week it will be something added..34 and dying slowly my doctors are clueless.😑

  13. Jill Gould says:

    I was diagnosed with acute intermittent porphyria at age 12. I am now 20. The same doctor who signed off on my AIP dx in 2008 retracted that dx in 2014. I am not alone. There are many, many others like me who suffer and are left out in the cold, ignored by those who say they are porphyria experts. We need clear diagnostic protocols–not solely based on urinary biochemical “proof.” Family history, DNA testing has become subjective with this group–BLOOD is ignored completely. WE NEED HELP!!!!

  14. Isaac David henning says:

    I hope you find a cure.
    Been to lots of doctors for my condition, I wish someone would take on what I have.
    I stopped going to doctors.
    Sad and alone. What I have not only affects me, but others around me.
    And when that is said, it’s just to crazy to be real. Anyhow wish you the best.
    Someone named this thing I have, People allergic to me.

  15. Holly says:

    Any answers yet? I have the same thing

  16. Delores Kamphuis says:

    I am 65 yo female. I have been diagnosed with EBV, FM, PTSD, & possible costochondritis. It’s the possible costochondritis that has me despairing of life. All doctors have given up on me. Most people have. Who wants to be around someone who has an illness that keeps them in bed most of their life since 2009? I am not asking for a cure. I would love to have one. I just want to know what is causing me to be in so much discomfort that I pray to die. Please help me!!

  17. Paul Cordek says:

    I am 52 years old and have been suffering from some un-diagnosed disease that started with muscle twitching all over my body followed by gradual muscle loss. Went to so many Doctors and Mayo Clinic in Florida and Minnesota – all say nothing’s wrong be happy.
    I am so discouraged and upset at people who are supposed to be fighting for you, and yet, they’re not. Somehow, the patient has mental issues and needs Psychiatric help. I have applied to UDP and no luck. I am almost ready to give up. I have a 5 year old at home and was fatherless growing up. So, you can imagine how desperate I am to find out what this is, and hopefully a cure.
    Please help me. It’s just not right there’s no place to go to get REAL help, not square box medicine.

  18. Joyce Gould says:

    An update on my daughter, Jill Gould. Recently, an expert Venezuelan porphyria team took a special interest in her case. Come to find out, the American Porphyria Foundation and its Scientific Advisory Board members have ignored an important component of the acute porphyria diagnostic model, essentially rendering its US/European diagnostic model incomplete. It’s not the urinary component that’s the end-all-to-be all of dx acute intermittent porphyria–it is the enzyme (PBGD)activity. Just as I’d identified years ago and have been begging this patient support group and experts to address–to no avail.

  19. I have PAD and after I had an operation in which three Stents were put in my upper part of my leg I started to get short of breath and have heart palpatations. That eventually stopped but I was still short of breath After about a month I started getting a rash which is very itchey.I was told it was a grovers like disease. Along with that I became enemic xand had to ha e a blood transfusion. A few weeks later I still was not feeling well, same symtoms. Now I’m told I’m low on iron and have had 5 iron infusions with 2 more to go. I also have something which feels like water in one of my ears . Somehow I think it’s all related but have no real answer. Im right now mildly enemic and very itchey. I’m 66 years old.I’ve seen so many doctors. It takes to long between appointments Where would I go to have a good team of doctors to finally figure what’s going on?

  20. Erica Thiel says:

    Maybe a silly question but your being seen at an Academic medical center now?
    Ad a former long un-diagnosed patient and even now with a diagnosis getting some answers is like pulling teeth I feel your frustration.
    Is your primary Dr really good, listens? Tries to help and figure out whose best to see?

  21. Mike Furlow says:

    Iam a 32 year old male. I have been all over trying to get awnser to my illness for the past 7 years and it seams to get worse every year! I countinue to work even though it’s a battle every single day. I have 3 young children to take care of! I have severe pain all over my body mainly in my back and legs! I have the chills Alday everyday! Bad headaches, rash in my mouth, large knots in my legs and lower back! Severe eye floaters which is made worse because iam blind in one eye! Low energy I could sleep for 22 hours out of a 24 hour time period! Stomach problems! Weakness! It’s very frustrating because I have been to the mayo clinic and to every Dr Dallas TX offers and all my test results come back normal. Never say anything is wrong but I feel so bad every day!! If anyone could help point me in the right direction me aND my children would be so blessed and greatful!! I have really good insurance and have no problem going wherever to try and get help! Thanls so much and God bless!

  22. I have an undiagnosed disease. Is the program willing to lool into it?

  23. Jay says:

    I was born with a rare condition called hypospadias. From what I’ve read and heard it is thought to be caused by hormone deficiency in the whom. I now have hypothyroidism and been told I’m a prediabetic. I have never been able to have kids and that can be cause be hormone problems. I’ve gotten to the point where I can’t work and feel physically ill. I don’t have insurance so I can’t afford an endocrinologist. I am desperate and would like to know if there is any help out there to afford an endocrinologist or trials I can join to figure this out? My email is torrance674@gmail.com if anyone has advice or can help plz plz plz contact me. I physically can’t handle this anymore

Comments are closed.

X