Oct. 23, 2013
Posted at October 23, 2013 2:44 pm by Mary Dunkle

15 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. 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

  2. 5 years to be dx with cluster headaches, currently no medications to prevent clusters. Only abortive imetrix..

  3. 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.

  4. 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.

  5. 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.

  6. 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.

  7. [...] 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 [...]

  8. 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

  9. 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.

  10. 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.

  11. pearl admas says:

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

  12. 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.

  13. 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

  14. [...] 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.” http://blog.rarediseases.org/30-years-after-the-orphan-drug-act-i… [...]

  15. 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.

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