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Dr. Gahl, Dr. Markello and others from our NIH lives make the New York Times!!!

Below is a story that appeared in today's New York Times. It's about the undiagnosed disease program - but you'll recognise so much of the NIH experience in this story - even down to our favorate ward - 5 NW - home away from home!

Be prepared for a long read - maybe print this out in large print and settle down with a nice pot of tea. It's a long read.

What’s Wrong With Summer Stiers?

By ROBIN MARANTZ HENIG
Published: February 18, 2009
Her breasts are beautiful. This is a surprise. Seeing them looking so healthy and normal reminds you how young this patient is and what her life might be like if her body hadn’t started to disintegrate in her childhood. If all you could see were her breasts, you would think she were perfectly fine. But that would be like the blind men trying to describe the elephant when each one focuses on a single part. Look at the rest of this patient’s torso, and you start to get a sense of the fuller story. A little bit higher, near the left clavicle, you notice a bump beneath the skin marking the implantation site of her vagus-nerve stimulator, which delivers an electrical impulse to her brain every three minutes to stave off the
seizures that would otherwise plague her. A little lower, on the right-hand side of her abdomen, you see a hole and a permanently implanted tube through which she has hooked herself up to peritoneal-dialysis equipment every night for the past five years, to flush out the toxins that her ruined kidneys cannot.


The metaphor of the blind men and the elephant applies not only to the landscape of this woman’s body but also to the approach of just about every specialist who has seen her in the 20-plus years that she has suffered from her mystery disease. The limitation of this method is what took this patient — a petite, feisty, 31-year-old woman from Oregon named Summer Stiers — to this consultation room at the National Institutes of Health on a Thursday in early December, stripped down to her panties. Stiers was being examined by a dermatologist, Maria Turner, who is among the dozen or so specialists who would see her before the week was out. And even though Turner and the others are part of the innovative new Undiagnosed Diseases Program at the N.I.H., and even though they collectively represent the very best that American medicine has to offer, they still began by approaching the big picture of Summer Stiers the way most specialists do: like the blind men, one piece at a time.

http://www.nytimes.com/2009/02/22/magazine/22Diseases-t.html?pagewanted=1&_r=1

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