Undiagnosed, not always healthy, but nevertheless mostly happy

Update 13 March / People look at me in astonishment when I say my very handicapped 17-year-old daughter has no clear diagnosis. They grope for the next questions, which are usually: so when did you know something was wrong, did you have any idea what it was, do you know why or how it happened? (The answers: very early, suspected autism and maybe more, no, no clues but much speculation).

They look at me in even more astonishment when they hear the answers because we live in a world of medical miracles and rapidly advancing technology, right? So how can someone not have a diagnosis? The Wall Street Journal has finally given me some new fuel for an answer.

I’ve been a journalist for years and started my career writing articles about medicine, health and children, especially about all the good things and progress made. The irony is not lost on me that for all our hoopla about advances, we are also learning that we really know so very little about how the human body works. We understand this more clearly when something goes radically wrong.

The moderator of a parents’ and professionals’ forum I’ve been following for several years, Nancy LeGendre, shared an article with us today from the Wall Street Journal. Here is an excerpt and all I can say is Amen, but first a footnote on my daughter: after a multitude of tests she was finally diagnosed at age 11 with “atypical Rett Syndrome” by an honest but slightly sheepish, highly-regarded specialist who said, “We all agree that she doesn’t really fit the profile, but if it helps somewhere along the line to have some kind of diagnosis, maybe this can be a starting point” (I’m paraphrasing – this conversation goes back six years). In fact she is so atypical that she doesn’t fit the atypical group, so I only whip out the diagnosis as a label when I get tired of the questions.

Here’s what the WSJ has to say (the rest is worth a read, too):

Researchers say the lack of a diagnosis affects far more people than was previously thought, although precise statistics do not exist.

The National Institutes of Health set up a special program in 2008 to help undiagnosed patients identify their illness. In a survey of people with rare diseases, 36% remained undiagnosed for one year or longer, and 1-in-7 patients remained undiagnosed for six years or more, according to the non profit National Organization for Rare Disorders.

The NIH estimates about 25 million Americans have rare diseases, defined as affecting fewer than 200,000 people.

A bill introduced in Congress last spring would establish the first-ever national registry of undiagnosed patients. And Internet forums are expanding resources for these patients. While checking one Web site, for instance, Ms. Jenkins found the name of a Cleveland Clinic medical geneticist who had spent seven years before finally reaching a diagnosis for one family. Trying to identify undiagnosed diseases is extremely difficult. Even at the NIH’s program, which has so far studied the cases of 240 people, the success rate is only 10% to 15%, says William A. Gahl, who runs the program. “The norm is failure,” he says. Some diseases are new and simply haven’t been seen before, Dr. Gahl says. And, he says, “We don’t even know all the variations of known diseases.”

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