need to add title here

Rare disease or fake illness?

May 20, 2012 4:00 PM

Dr. William Gahl, director of the Undiagnosed Diseases Program at the National Institutes of Health, explains why mysterious ailments are sometimes mistaken for hypochondria.

Hard cases: Investigating rare & tough diseases
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by Yucatandan May 22, 2012 7:48 AM EDT
Modern Psychiarty does not even diagnose AMNESIA either anymore. This alone could be HALF the issue here? No Drugs or Medications work and Not many do Test or do Talk Therapy for it.

Finally, after 50 years "concussions" are being scrutinized by new technology and alot is being learned about the Brain.

It is an epedemic.

And we are allowing Insurance and Big Pharm companies decide healthcare.
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by sjhilliard May 21, 2012 10:27 PM EDT
In the pediatric world, I feel the consequences of having a difficult-to-diagnose disorder are even more devastating. An adult who hasn't been diagnosed is accused of being a hypochondriac and making "illness" up for attention. When it is a child the doctors can't diagnose, they accuse *parent* of making-up the illness in the child, for attention. For adults the label of hypochondriac leads to scorn and lack of sympathy, for parents accused of fabricating a child's illness, the frequent result is that the parent loses custody of the child and the family is torn apart. It is a very serious problem. Medical attitudes about patients with unusual problems need to change!
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by follydarling May 21, 2012 1:42 PM EDT
I went to over a hundred doctors trying to find a dx. I have letters where one wrote I was a hypochondriac and referred me to a psychiatrist. Luckily the man was honorable and his dx was that I was quite ill and not a hypochondriac. It still took 15 more years and me using the computer every nite trying to figure out "what I was". I finally found all my symptoms and such in a report that turned out to be an autopsy report. But at least it had a dx. I then found the only doctor in my state at the time that even treated or knew what it was. As he says I have collateral damage because of the misdiagnosis from other doctors as well as some of their treatments which are opposite of what I should have had. The kicker is my body still has more problems than just what the basic dx is. There is money needed to pay for the complete gene analysis to see if this is a new disorder or a mutation of another. I wish NIH could help. I am told that university needs about $10K to $15K minimum to have all of it mapped and then researched. As we all know just because you have a mutated gene, you then have to assess impact on your body. I almost died this past week when my electrolytes went whacko... I fight things like this daily. I have had seizures and coma....part of my problems are tied to barometric changes on a daily basis --they impact the nitrogen and oxygen levels and then cause problems.....I wish someone would take more interest.
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by follydarling May 21, 2012 1:41 PM EDT
I went to over a hundred doctors trying to find a dx. I have letters where one wrote I was a hypochondriac and referred me to a psychiatrist. Luckily the man was honorable and his dx was that I was quite ill and not a hypochondriac. It still took 15 more years and me using the computer every nite trying to figure out "what I was". I finally found all my symptoms and such in a report that turned out to be an autopsy report. But at least it had a dx. I then found the only doctor in my state at the time that even treated or knew what it was. As he says I have collateral damage because of the misdiagnosis from other doctors as well as some of their treatments which are opposite of what I should have had. The kicker is my body still has more problems than just what the basic dx is. There is money needed to pay for the complete gene analysis to see if this is a new disorder or a mutation of another. I wish NIH could help. I am told that university needs about $10K to $15K minimum to have all of it mapped and then researched. As we all know just because you have a mutated gene, you then have to assess impact on your body. I almost died this past week when my electrolytes went whacko... I fight things like this daily. I have had seizures and coma....part of my problems are tied to barometric changes on a daily basis --they impact the nitrogen and oxygen levels and then cause problems.....I wish someone would take more interest.
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by raredisease May 21, 2012 9:42 AM EDT
Thank you for addressing this important topic. The diagnosis challenge is bigger than most people realize. NORD receives phone calls and emails every day from people -- often parents of very sick children -- who are desperately seeking a diagnosis. We refer many people to the NIH Undiagnosed Diseases Program, and we salute Dr. Gahl and his team for the wonderful work they do. But, as your interview makes clear, the program is small and the problem is large. Rare diseases are an important public health issue. We just haven't realized that yet as a nation. Mary Dunkle, National Organization for Rare Disorders (NORD)
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by markellot May 21, 2012 8:10 AM EDT
To Ms. Townsend and others who so willing offer suggestions to the UDP, let me give my personal thanks to your help and concern for the UDP patients. Please be reassured that most known disorders like SCN1A genes have been tested on almost all (applicable) UDP cases prior to even being accepted. We even go beyond to rarer conditions that cause Myoclonic epilepsy, like KCTD7. We have sequenced the entire coding region of all genes in over 90 UDP cases and so far have not found a case of Dravet that had been overlooked by the referring physicians. Thank you for you suggestion and we wish the best to you and your son. Tom Markello
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by townsend812 May 20, 2012 8:57 PM EDT
for the child who is suffering from seizures PLEASE look into Dravet Syndrome!! (SMEI) Severe Myoclonic Epilepsy in Infancy!! My son is 10 years old had his first seiure at the age of 5 months. You can also receive more information at www.dravetsyndromefoundation.org THANK YOU Michelle Townsend!
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