WASHINGTON, D.C. (WRC) - It's a place hidden in the campus of the National Institutes of health, where some of the best doctors in the country play medical detectives trying to diagnose diseases that no other doctor can find a name for.
"We've seen all types of doctors from pediatrics to neurology and all that and some of them give you hope. Some of them can't see what's going on," said Gregory Otero. Gregory and Dulce Otero are in a race against time. It's a race against a mysterious disease that's killed two of their daughters and is now striking their youngest son. "We did everything we could and that's what brings us here now for Greg, to try to get what all we could do for him that could not be done for the other girls," said Gregory. The Oteros left their home in Sarasota, Florida to come to the NIH Clinical Center; home to the Undiagnosed Disease Program, where doctors play medical detective, trying to determine the causes of diseases that have eluded diagnosis for a long time.
"They want a name for their disease," said Dr. William Gahl. Dr. William Gahl is the program's director. He says their cases have stumped some of the country's best doctors. "Many people would consider this a last chance effort to come to a diagnosis, because diagnosis may lead to treatment," said Dr. Gahl. "I need a name. I need a name and if they can find a cure, then even better," said Dulce.
Treatment is something that the Oteros only dream of. They've battled this mysterious disease for more than 20 years. It started with their first daughter, Michelle. At just 15 months old, she had a stiff neck. That turned to muscle weakness, which spread through her whole body, eventually making her unable to breathe. She died at age 14.
While their second daughter remained healthy, their third child, Thaliany, experienced the same symptoms as Michelle, but her disease was more aggressive. She died at age 4. And now, their youngest son, Greg, is dealing with similar symptoms. He just turned 8. Doctors have no idea how long he'll live. "You're fighting with something and you just don't know what it is," said Dulce. The Oteros are spending a week at NIH. Greg will undergo different tests each day. He'll see a variety of specialists looking for clues as to the cause of his disease. DNA from the whole family will be analyzed. "What we'd like to do is find the genetic cause and then how the genetic mutation resulted in this disorder," said Dr. Gahl. In a few months, Greg's doctors will report back to his parents on what they've found. In the mean time, the Oteros are staying positive. While Greg is experiencing upper body weakness, he still has good use of his legs, something his sisters never had. "I have hope. I will always have hope and I probably will die with hope," said Gregory.
Since the undiagnosed disease program began in May 2008, they've gotten nearly 45-hundred inquiries. Of those, they've seen 300 cases and the of first 150 cases they reviewed they diagnosed 35.
Healthbeat 4 Multi-Media Journalist: Christy Batien
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