Oct. 22, 2012
Posted at October 22, 2012 11:15 am by Mary Dunkle

4 Responses to NIH Seeking Patient Input for Expansion of Undiagnosed Diseases Program

  1. Miriam Breslauer says:

    I have an unknown mutation of Hypokalemic Periodic Paralysis. I have seen close to 100 specialists in my life in a wide range of professions. Getting a firm diagnosis has been impossible. Doctors and specialists only seem to talk to each other through letters that seem quite limited. I have traveled all throughout the USA trying to find a specialist who could figure out why I randomly paralyzed throughout the day. Eventually I came across Hypokalemic Periodic Paralysis after 5 years of searching. It not only described what was going wrong with me, but with my whole family on my mom’s side. I have had to deal with getting a diagnosis, having it taken away, and then tentatively being allowed to say I have that problem since the medications and management program helped me greatly.

    My costs have been high in trying to get a diagnosis. It was just under the cost of a car payment each year for the first 8 years. I had health insurance all that time. I was fighting daily with the health insurance company to cover my medical bills.

    I try to keep up with the research on Hypokalemic Periodic Paralysis. I attend the Periodic Paralysis Association Conference every few years, since that is usually pretty far from where I live that can be expensive. Flying has become very difficult and I am not sure I can fly to get to locations any longer.

  2. The diagnosing of Pulmonary Fibrosis remains a huge challenge to patients. There is a 50% misdiagnosis rate, meaning those who could/should be listed for a lung transplant may only learn that too late to be a candidate for same. Additionally, they are often treated inappropriately for cancer, emphysema, COPD and a number of other unrelated disorders, often worsening their health. General practitioners don’t always refer their patient to a pulmonologist, which is a big part of the misdiagnosis issue. Getting a definitive diagnosis of PF versus COPD is absolutely critical, but there are many cases where doctors leave patients uncertain if their disease is fatal, or is something with a less dire prognosis.

  3. Rachel says:

    Primary sclerosing cholangitis (PSC) is often related to inflammatory bowel disease (IBD), and often the chronic disease PSC that has no cure and no treatment is suspected only after a patient has had an abnormal liver panel. There may or may not be symptoms at diagnosis. Some have devastating symptoms that are confused with IBD symptoms. Often gastroenterologists have not seen cases of PSC and don’t recognize even the most devastating case of cholangitis and will confuse it with a virus or a reaction to a medication, even when a liver panel has been taken and numbers are abnormal. Added to the obscurity of PSC, the patient often has no access to a hepatologist,

  4. Z A Gentle says:

    It is not so much that I have not been able to get a diagnosis in my case. Actually, according to my records, I have had chronic adhesive Arachnoiditis for many years.. My problem is, my doctors knew all about this and hid the condition from me for well over a decade and a half. In fact, I would still be in the dark today, 20 yearslater, had one of my neurosurgeons not requested me to bring my current (Tennessee) myelogram CT radiology films and report with me when I flew out to Arizona to see him. Being the curious fellow I am, I decided to open the report to read it and got the shock of a lifetime..

    So, the information was there, it’s just that no one bothered to tell me about my serious condition. So, in a sense I did not get a diagnosis, but only because it was withheld from me.. There needs to be more transparency and honesty in today’s medicine, so long as cases like mine exist. Of course, the fact that conditions like mine are iatrogenic, make the frank admission difficult, if not impossible, since some of my physicians could have been responsible for my having the condition, hence the secretivity.

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