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333672 tn?1273792789

NIH program to try to identify rare diseases

The New York Times has an interesting article on the Undiagnosed Diseases Program at NIH where they are taking a team approach to trying to diagnose or identify what's going on with people who have complicated problems that have eluded diagnosis. They are also doing a lot of genetic investigation to see if they can pick up any patterns that way.

http://www.nytimes.com/2009/02/22/magazine/22Diseases-t.html

A couple of interesting tidbits. Apparently, the only two people who have gotten a dx out of the program so far had "rare forms of multiple sclerosis." (wasn't somebody posting on here about that recently?)

The woman who was featured in the article had hardened skin on her shins, which the doctors thought was from gadolinium from MRIs. She also had a lot of kidney problems and had been on dialysis for a number of years.

This is something I think Quix has said before, but William Gahl, the doctor in charge of the program, noted that "Under the stress of an undiagnosed disease ... 'people tend to react the same way they would react under other circumstances, just in a little more intense form.'"

sho
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Avatar universal
Wow, reading this article certainly puts things in perspective. That young woman has so much to contend with. It makes all of us seem like a piece of cake, diagnosis-wise.

Speaking of wise, quite a few years ago there was a great New Yorker cartoon. Two owls in a tree were looking at Junior perched nearby. One says, "How's he doing, wise-wise?.

ess
Helpful - 0
559187 tn?1330782856
Lu - I definitely have enthusiasm for the NIH.  Just because I am dealing with this one little issue with the current institute, which I hope will get resolved this week, I still have a great deal of respect for the NIH as a whole.  Dr. Gahl's institute (NHGRI) studies rare diseases and you know they must see some really challenging cases.  They also have plenty of money to spend on their patients to find out what is wrong. The institute I am with right now has money too, but the particular branch may not have as much and that's why they are pinching their pennies when it comes to taking care of their patients when complications occur. Every institute at the NIH has a slightly different approach on how they handle patients and a lot of the differences probably have to do with how much money they have in their budget.  Had the rare diseases institute, Dr. Gahl's gang, did my comprehensive testing then I am sure I would have never been sent to the ER for treatment of a complication to a procedure that was not life threatening, but instead would have been brought to the NIH to take care of it.  I think it is all about the money.

Sunny - I am already in the "undiagnosed diseases" file with the NIH.  I was actually thinking of you when I said I'd recommend anyone having trouble getting diagnoses might want to look into it.  Your medical issues are definitely an interesting and complex case.

Julie
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572651 tn?1530999357
Sho,
thanks for sharing that link.  It took me a while to get through the whole article thanks to interuptions but I'm glad I stuck with it.  That gave me a good look at a whole different diagnostic side that I had not considered.  

Julie, it's good to hear enthusasm again in your words about NIH - I hope you will have anwers when you meet with them in March.

ST and CB - it sounds like they are extremely selective for this program, but why not try to get them to look at you since everyone else has struck out or given up?

my best to all,
Lulu

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Avatar universal
Thank you. I am going to be checking into this since Im beginning to think my doctors are starting to think I am a hypocodriac. My symptoms are so real and I have so many. Its just the test are not showing anything.
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486038 tn?1300063367
Julie, do you think this would be an option if NYU gives up this spring?
~Sunnytoday~
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559187 tn?1330782856
This is really an exciting program that the NIH has been doing under the radar for a little while now.  Thanks for bringing the information to the group especially since the 2 diagnosed cases happened to be MS.

I have some personal experience with this program.  In fact, I know Dr. Gahl. I was in a clinical study at the NIH about 5 years ago that is studying people with albinism that was started by Dr. Gahl about 15 years ago.  At the end of the testing, Dr. Gahl told me that I didn't have the syndrome based on gold standard that they are using right now, but that he thinks I may in the future when research catches up with discovering more gene mutations and he asked if I wouldn't mind being kept in his "undiagnosed diseases" file.    

On a personal note, we compare Dr. Gahl to "Dr. House", but without the attitude.  He does not leave a stone unturned in trying to find answers for patients and sometimes his team can as with the MS cases, and sometimes they can't, but they work very hard on behalf of the patient.  He is truly the kindest most compassionate research doctor I have come across or any doctor that I've come across at this point. I remember one time telling him how frustrated I was about not knowing what was wrong and wondering how long it will take to get answers, and he told me that research takes a long time and we have to just keep chipping away as best we can but he is committed to not giving up and neither should I.  

I would strongly and without an ounce of hesitation recommend anyone who is struggling with getting a diagnosis to look into this program.  Of course they can't take everyone, but if you put your information before them then there may be a chance that the NIH will find your case very interesting and try to help.  They love interesting and complex cases.

Thanks again Sho for bringing this to our forum.  

Julie
Helpful - 0
382218 tn?1341181487
Great article, thanks for sharing that.

I wonder whether one of the "rare forms of multiple sclerosis" mentioned was Devic's?
Helpful - 0
147426 tn?1317265632
This is really interesting.  We have some nominations for them!

The quote about dealing with reacting to a severe disease I got from someone else.  I believe it was ess.  So the credit belongs elsewhere and just to me for remembering it.  :))

Q
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