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Oct. 23, 2013

TOPIC: Advocacy, Featured News, Medical, Patients & Members

30 Years After the Orphan Drug Act: It Still Takes Too Long for People with Rare Diseases to Get an Accurate Diagnosis

Posted by Mary Dunkle


NORD recently posted the following question on its Facebook page: How long did it take you or a loved one to get an accurate diagnosis?

We were stunned at the response. Within the first few hours, we got 200 replies and 20% of those who responded had waited 10 years or longer to get an accurate diagnosis.

A significant number had waited 20, 30, even 40 years. Some wrote that, as adults well into middle age, they finally learned that the disabling symptoms they had experienced all their lives resulted from a disease present at birth.

Much has been written lately about the growing emphasis on orphan drug development in the pharmaceutical industry. Approximately one-third of the new drugs approved in recent years have been orphans (for rare diseases).

Some of these new therapies are life-altering or life-saving. But the patients who need these new therapies may never benefit if they can’t get an accurate diagnosis.

During this year marking the 30th anniversary of NORD and the Orphan Drug Act, we have been celebrating progress to date in drawing attention to the need for treatments for all people with rare diseases.

But it’s also clear that we now need to focus on the diagnosis challenge. NORD is committed to doing this. Our staff has already begun outreach to others who can help.

Our efforts will be fueled by the heartbreaking stories we hear every day from patients and families, including the responses to our Facebook question.

Here are a few examples of the Facebook posts:

“It took us 9 years to get a dx for our daughter. It’s been 6 years since then. Now we’re being told that the original dx was probably wrong. So we’re back at square 1.”

“I had symptoms all my life and wasn’t diagnosed until age 39 (polyglandular autoimmune syndrome type 2 or Schmidt’s).”

“8 years. My daughter had Turner syndrome and nobody knew a thing.”

“I was tested for Marfan’s at age 13 but did not get a diagnosis until age 19.”

“It took 9 1/2 years to get my son’s dx of eosinophilic esophagitis finally at age 11.”

“It took until I was 40 to get accurately diagnosed with Ehlers-Danlos syndrome although it has affected me in various ways my whole life, including a life-threatening uterine rupture and hemorrhage at age 18.”

“I was 30 when I was diagnosed with ornithine transcarbamylase deficiency, a urea cycle disorder.”

“It took 3 years for my child to be diagnosed with Majeed syndrome … after several doctors brushed it off as being growing pains … until her immunologist took notice and NIH stepped in. Very grateful!”

“I have been sick most of my life but really searched for 10 years before being diagnosed in 1998 with Behcet’s syndrome and then in 2002 with relapsing polychondritis. Having both diseases is also called MAGIC.”

“I’m 49. 4 years ago I was diagnosed with familial cold autoinflammatory syndrome (FCAS) after suffering all my life with the symptoms of it. After seeing specialist after specialist, an allergy specialist put an ice pack on my arm and the rest is history. I would like doctors to be more educated about rare diseases.”

“50 years for HAE (hereditary angioedema).”

“5 years and many tears and tons of money!!”

Have you experienced diagnosis delay? NORD will be gathering examples, now and in the future, to support our efforts to draw attention to this important issue. We’d love to hear from you.  Comment here or join our conversation on Facebook.

19 Responses to “30 Years After the Orphan Drug Act: It Still Takes Too Long for People with Rare Diseases to Get an Accurate Diagnosis”

  1. Ann says:

    The wait was over 6 years to be diagnosed with relapsing polychondritis. Waiting while feeling ill is difficult but the most difficult part of the journey is what happens at appointments. I was told it was a ‘conversion disorder’ even when lab findings signalled something was wrong. I was encouraged to relax, exercise, lose weight, and take a vacation. Once diagnosed I realized that there was still going to be a battle. The information on it is scattered and very few physicians know about its effects or how to treat it. I would like to ask physicians to please listen to your patients and be kind. It isn’t my fault that I have a rare disease.

  2. Elaine Henzler says:

    My brother had neurofibromatosis his whole life, he had a classic form, Café au lait spots (many) peripheral nerve sheath tumors, learning disabilities, axillary freckling under arms and groin – he was dx’d. at age 40, when NF 1 was dx’d. in his son. Sad.

    I was dx’d. with Ehlers Danlos Syndrome at age 61 and I have been ill many years. What may I ask are these doctors learning in medical school?

  3. Evelyn Crawford says:

    I’m 57 years old. I have been misdiagnosed my entire life. I have had pain that could be equal to a cancer patient. I have recently found that many cousins have EDS. My Rheumatologist states he knows about EDS but will not diagnose it. He says I have to wait to see geneticist. I was misdiagnosed with Fibromylagia years ago, had heart valve replacement with two other valves leaking within 1 year post-op of valve replacement.I take some pain medication but pain is very bad most of time. I have symptoms of other disorders associates with EDS. I feel like my doctors think I’m a hypochondriac or drug seeker. This could not be farther from the truth! I live in great pain,joints popping out of place,heart rhythm disorders. The list could go on and on. I feel very alone in this matter. I feel am expected to keep smiling and suffer alone.

  4. Karen Carr says:

    I was 53 years old when a light bulb went on my disorder wasn’t in my head at all.. Both of my young adult children had variations of the same thing I did,, about six months on the computer and I came across an article about Rare Potassium Type of Sensory Overload Adhd.. not only did I find out about my adhd but I also discovered my chronic pain and fatique was likely Andersen Tawil Syndrome.. a type of periodic paralysis that affects my muscles everytime I over exercise eat foods too starchy or salty. The most painful thing was with diet change added potassium within three days my pain literally stopped. However at 53 I am saddled with permanent muscle weakness and a large family that doesn’t want to believe they may suffering from the same condition. Why would they believe me? For over 40 years everything I had brought up to doctors was written off as psychological in nature.

  5. […] the majority of rare disease patients spend at least three years suffering in search of diagnosis. If rare disease were actually rare this figure might not be so disturbing, but there are tens of millions such patients in the US. Most of them fit your guidelines for BDD during their long diagnostic delay, as they repeatedly seek relief for unexplained symptoms that do eventually tirn out to have medical causes.”… […]

  6. CHERYL says:

    I am 66, miracle to be diagnosed in my 30’s by a one of a kind expert in the field of Dysautonomia. Now that he retired a number of years ago and no one replaced him I am getting worse. One thing after another, infections, loss of balance, muscles deteriorating, so weak and tired all the time. My body aches and the pain medicine does not stop it. My neck and spine are getting very stiff and painful. I have horrible ulcerative colitus, headaches, nausea, diariah so bad. I had surgery for skin cancer and I have not done very well. I am bedridden most of the time. I have no expert to treat me with the proper medicine. The Government sent me a letter saying they were no longer going to pay me my 200.00 disability. I received my last deposit. Is this fair, something about me reaching retirement age and something about work ticket. Never heard of this. This is very unfair as I need the money to pay for the expensive drugs I am on for my colon. I have not been able to get the colon in remisssion in so long, diapers 24/7. I get discouraged with so many Drs. My spine and neck are in such pain and they say there is nothing wrong, go for therapy. I already have a therapist… My Catholic Faith is what keeps me going along with my Jewish Heritage as an Ashkenazie. No one caught my illness as a child, not even when I had two sons of my own. Something is very wrong in this country, many somethings. Thank you, any advice will be appreciated. Cheryl

  7. Yoni Maisel says:

    I was diagnosed with Common Variable Immune Deficiency (CVID), a Primary Immunodeficiency, in 2005. In the decade or so leading up to the diagnosis, I fit the picture of PI perfectly. At least 2 pneumonia cases every year, infections of every body system, and at least 60 days of every year on antibiotics. Looking back at my bloodwork, initial signs were there; all a physician needed to do was order specific blood tests for antibody levels. Since nobody did, the diagnosis was delayed a decade and rather than beginning treatment, I suffered.

  8. pearl admas says:

    Anything about Rheumatoid arthritis and causing ILD, interstial lung disease.

  9. Great read thank you for sharing. Churchill Communications cares about rare disease research and communications. We are dedicated to elevate the level of scientific accuracy and clinical relevance of industry-sponsored communications activities.

  10. It’s not just rare diseases that are taking too long to diagnose – it’s happening to people with relatively common but not well known diagnoses too. For example I have Postural Orthostatic Tachycardia Syndrome (POTS) secondary to Sjogren’s Syndrome. POTS is estimated to impact 1 out of every 100 teenagers in the US, and between 500,000 to 1,000,000 Americans, yet it too me over a year to get diagnosed with POTS, and it was actually me who figured it out and showed my neurologist some journal articles on it.

    It took two years from the onset of acute symptoms to figure out that I had Sjogren’s Syndrome, although looking back it’s pretty clear that I have had signs of Sjogren’s for over 20 years. It would have been nice to get diagnosed early on, so we could have prevented some of the permanent damage I now have to live with. Sjogren’s the the second most common autoimmune disease behind rheumatoid arthritis, and of the 4 million American’s who have it, about 75% remain undiagnosed.

    My experience is not unique amongst people living with POTS or Sjogren’s. The majority of people who have POTS and Sjogren’s are women. I believe this is a large part of the reason why these patients take so long to get diagnosed. Many of these people, including myself, were told their symptoms were all in their head or were just anxiety. That fact that this Victorian era view of anxious young ladies who can’t possibly understand their own body persists in medicine is really shameful. And it’s not just male doctors treating women like this. I had plenty of female doctors give me the “why don’t you try some Xanax and congnitive behavioral therapy” talk too.

    I didn’t have anxiety. I had a pretty common autoimmune disease attacking my nerve fibers, my lungs, my GI tract and more. I didn’t need Xanax. I needed a smarter doctor.

    I would like to see specialty centers developed that focus on helping people with difficult to diagnose conditions. The NIH has a program in place, but it is nowhere near large enough to handle the demand for this type of service.

  11. Dear Mary,

    The Tarov Cyst Disease Foundation can share “horror stories” regarding delays in the diagnosis of Tarlov/perineural cysts.

    The diagnosis of Tarlov/perineural cysts can take many years (on the average 10-20), and the longest delay we have heard from a patient was age 87,who had been symptomatic since age 37! Even after the diagnosis, it is often dismissed/ignored,due to lack of education in the medical community………..or worse, misinformation and ignoring the diagnosis.

    Because the symptoms from this neurological diagnosis can cause multi-systems issues, patients spend years being referred to gastroenterologists, urologists, gynecologists, chiropractors, orthopedists, neurologists, etc. and yes, psychiatrists…….. EVEN after the diagnosis of Tarlov cysts from MRI imaging studies.

    Another issue in delay of diagnosis is that radiologists often do not report the pathology when it is imaged on MRI….a worst case scenario. Additionally, radiologists often state on the MRI report that the perineural cysts are seen on the spinal nerves; however, “they are an incidental finding of no clinical significance”. These issues cause the patient to suffer for years and years with increasing neuropathic pain,nerve damage, and organ dysfunction.

    Additionally, as in most rare diseases, there are very few physicians who have ever heard of Tarlov cysts and even fewer who have expertise in treating this difficult spinal nerve pathology.So, we are acutely aware of the issue of lengthy delays in diagnosis and major issues in ignoring/dismissing the diagnosis within the medical community.

    We look forward to working with NORD to bring increased awareness of the delays! Earlier diagnosis can prevent tremendous suffering and life altering consequences. Thank you for helping us to provide more attention to this issue.



    Reta Honey Hiers, President/ Executive Director

    Tarlov Cyst Disease Foundation

  12. […] 20% of rare disease patients took 10 years to get an accurate diagnostic, according to an informal pool conducted by NORD. A significant number of patients had waited even more than that, 40 years for […]

  13. Derek says:

    Our 10 month old first born son was misdiagnosed with cerebral palsy. A few months later after his physical abilities started to diminish, further neurologic testing at Children’s in Boston unveiled the true and tragic diagnosis of Metachromatic Leukodystrophy. We went from happy parents to devastation in less than a year.

  14. Dorothy Chapman says:

    I’m 66 and have suffered since I was 19 with cluster headaches. I waited more than 10 years to be diagnosed, during which time I had four teeth out on the side of the excruciating pain in a bid to get relief. No painkillers worked – there was no treatment that worked. I suffered attacks during pregnancy – also during and after labour. It was sheer hell every time I went into a cycle. I would dearly love to see new drugs being developed specifically for this condition. I was in my 50s before I discovered that oxygen helped and so that is what I use nowadays along with frovatriptan tablets to abort attacks.

  15. Michael Panarelli says:

    I have been suffering with cluster headaches since 2007. Just diagnosed 2 years ago. Never understood what was happening. Doctors sent me for brain scans thinking I had a tumor. Have yet to find a regular medication to prevent them, only tired different types of pain killers, all which work for a little while in the beginning and then slowly loose their effectiveness, and have been using oxygen also. I have been paying close attention to what my triggers are, and making sure to avoid them and keeping my diet very simple with as little sugar as possible (sugar seems to be a trigger for me) and avoiding alcohol which is also a trigger. I have started a regimen of juicing a lot of green vegetables, and drinking wheatgrass juice. These seem to help lessen the frequency and severity of the headaches, for now at least.

  16. Mary Smith. says:

    4 years to be diagnosed with polymyositis and now 2 years later, I will need a second muscle biopsy to make sure it is not inclusion body myopathy. My primary care physician just kept saying I needed to exercise more.

  17. 5 years to be dx with cluster headaches, currently no medications to prevent clusters. Only abortive imetrix..

  18. Sharon says:

    I waited countless years to be diagnosed with cluster headaches! First I had sinusitis them migraines then I was told I was exaggerating the pain! I finally got diagnosed properly around 4/5 years ago and now trying to find medication that works for me