Oct. 22, 2012
TOPIC: Featured News, Patients & Members
Posted at October 22, 2012 11:15 am
Patient representatives who missed the recent NIH webinar regarding the planned expansion of the NIH Undiagnosed Diseases Program may still submit input on the questions discussed.
Responses from patient organizations to any or all of the questions listed below may be sent directly to the NIH Office of Rare Diseases Research: ordr@mail.nih.gov.
In July, NIH announced plans to expand its Undiagnosed Diseases Program. While these plans are still in the early stages, the intent is to create 5 to 7 diagnosis centers offsite from the NIH campus. Responses to the questions will be considered, along with other information from other sources, in the selection process for clinical sites for the expansion.
Read about the planned expansion of the Undiagnosed Diseases Program.
QUESTIONS DISCUSSED IN THE WEBINAR
What are the major barriers to obtaining a diagnosis?
Ready access to specialists, including:
- inability to see a specialist needed to help obtain an accurate diagnosis
- number of specialists seen in order to get an accurate diagnosis
- issues getting specialists to talk to each other (coordinated care)
Travel requirements (restrictions or limitations due to disease), including:
- number of times patient has traveled out of town or out of state to be seen by a doctor when trying to obtain an accurate diagnosis
- whether travel distance has ever prevented seeing a doctor to get an accurate diagnosis
- farthest distance traveled to see a doctor when trying to get an accurate diagnosis
Ease of access to newer diagnostic tests, including:
- problems gaining access to newer imaging or genetic sequencing tests necessary to get an accurate diagnosis
- insurance reimbursement issues for costs related to getting an accurate diagnosis
- time required to get tests approved by insurance companies/third party payers
4 Responses to NIH Seeking Patient Input for Expansion of Undiagnosed Diseases Program
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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.
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.
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,
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.