Dr. House and The Undiagnosed Diseases Program

I Love Dr. House

Once a week I watch with sick enthusiasm my man Dr. House, along with his team as they race to unravel medical mysteries. I stuff my face with "Cheez-Its" while I play neurosurgeon, cardiac specialist, or a veterinarian. I cautiously and systematically diagnosis the patient only to find out Dr. House knows more then I do, who knew? Because of my obsessive medical "Internet" capabilities my adult children and family physician have barred me from any further consultations. They cut me off five years ago, I am now left with Dr. OZ, Dr Phil or my Dr. House. I am more inclined to hash it out with the House doctor.

How Did It All Begin?

When I was a little girl my sister suffered from an autoimmune disorder, much of my childhood was filled with medical jargon. Trips up to the University of Michigan Hospital became a normal occurrence, watching the staff move about left me awestruck. My fascination with medial science was born. This resulted in a young career of veterinarian medicine, the dog was diagnosed with rheumatic fever, kidney stones and cats leukemia. I wasn't too proud of the latter, I was only seven and improved with age.

The Real Dr. House

Yesterday, in the New York Times I read an article on the "Undiagnosed Diseases Program at the National Institutes of Health", again I was awestruck. The article pointed out the institute has a team of specialists that surpass Dr. House and Dr. Oz , they use sophisticated tools of medicine along with genomics to diagnosis disorders or diseases that other doctors could not.


The Rare Disease

Written in the New York times article is a story about a woman who apparently suffered with excruciating pain for years, each step she took was unbearable. Then her hands began to hurt, over the years her condition continued to get worse.


The woman's physician sent her to the institute which resulted in the discovery of a rare disease. The researches decided to look for a genetic link because her siblings also suffered with the same symptoms. In short it was discovered that because of a gene mutation calcium began to build up in her legs, feet and hands.


According to the New York Times piece ;
"The blood vessels in her legs, feet and hands were accumulating calcium deposits like the scale that sometimes forms inside water pipes. The deposits had grown so thick that blood could hardly squeeze through. But calcium was only in those blood vessels of her legs and hands; her heart’s vessels were spared, so she was not in immediate danger of dying. "


From The Undiagnosed Diseases Program; (Data On The Rare Disease)

NIH researchers identify genetic cause of new vascular disease.
Clinical researchers at the National Institutes of Health’s Undiagnosed Diseases Program (UDP) have identified the genetic cause of a rare and debilitating vascular disorder not previously explained in the medical literature.

The adult-onset condition is associated with progressive and painful arterial calcification affecting the lower extremities, yet spares patients’ coronary arteries. The new disease finding was published today in the New England Journal of Medicine.
More...

Rare Disease Research

http://rarediseases.info.nih.gov/News.aspx

Just fascinating !