Healthbeat Report: Disease Detectives

May 31, 2012 8:43:39 PM PDT
An estimated 30 million Americans are living with a rare illness or one that has no name. A highly specialized team hopes to unlock those mysteries.

Cody Alessi seemed fine until he had a seizure on a bus trip home with his college baseball team. An MRI uncovered abnormal lesions on his brain. Doctors thought parasites might be the cause but treatment didn't help. That's where the disease detectives come in.

"None of the consultants who have seen him have seen anything quite like this," said Dr. William Gahl, National Institute of Health (NIH) Undiagnosed Diseases Program.

Alessi has come to the NIH's Undiagnosed Diseased Program. For days medical sleuths run tests, digging for a diagnosis where others have failed. The program was started in 2008, but many people may not know it exists.

"At the end of your stay here we tell you what we know, what we don't know and make a plan for the future," said Dr. Gahl.

The team has already ruled out a genetic basis for Alessi's disease. But they are still looking for more answers.

After 22 years, Mandy Young's medical mystery was the first solved by the NIH and what helped launch the program. She has a genetic mutation known as IRAK4.

"Just having a name for it, is like the biggest weight lifted off your shoulders just because you have a name," said Young.

That's what the Mogul family of suburban Chicago desperately wanted -- something to explain what was happening with their daughters.

"We know that there is something genetically wrong. Is there a name for it? There is no name," said Steven Mogul, father.

They knew their daughters Hayley and Bari were unique but didn't realize how unusual their situation was until they were accepted into the NIH program. It is very rare to have two siblings with different undiagnosable conditions. Researchers decided to map the girls' genes.

"And then they came back and said, now we've really got something," said Mogul.

They learned both share a condition, hypoglycemia, that causes their blood sugar levels to dip dangerously low. In addition, they each have two different new genetic mutations. Hayley has a form of Smith-Magenis syndrome, which can cause severe sleep disturbance, obesity and behavioral problems, while Bari has a mutation in the GRIN2B gene, which has been linked to autism and brain dysfunction.

Pediatric genetics expert Barbara Burton, of Children's Memorial Hospital, helped the Mogul family get to the NIH.

"It's not just for children," said Dr. Burton. "It's children and adults. And it's not just genetic diseases. They have a full range of specialist there."

NIH researchers will continue to follow the Mogul sisters. For the family, just having part of the mystery solved is a relief.

"We have so much more good than bad," said Robyn Mogul, mother. "So we do take it hour by hour ... but as hard as it is, it's wonderful because they are truly angels."

The Mogul family is hoping what is learned about their daughters may help other families in the future.

Each year the NIH program invites about 200 patients in adults and children. Only about 10 percent leave with a diagnosis. They're hoping as genetic testing gets better they'll soon have a 50 percent success rate.

NIH undiagnosed Diseases Program
http://rarediseases.info.nih.gov/Resources.aspx?PageID=31 1-866-444-8806

Nonprofit: In Need of Diagnosis
-helps patients find doctors and resources: www.inod.org


Load Comments