NASHVILLE, Tenn. - Imagine if your child had trouble walking or talking but doctors couldn’t tell you what was wrong. That’s the case for thousands of families in the U.S., but now researchers are giving hope to those with undiagnosed diseases.
“She’s actually the most determined person I’ve ever met,” Gia Sutermeister said of her daughter Anneliese, who was born with neurological issues and after dozens of tests, still has no diagnosis.
“It’s a challenging and emotional time because not only do you not have an answer but you also know there are no treatments,” Sutermeister said.
Doctors estimate there are 30 million Americans living with a rare or undiagnosed disease.
“Even with the best of care, at the best medical centers, these patients never receive a diagnosis,” said Dr. Rizwan Hamid, professor of pediatrics and director of the division of medical genetics at the Undiagnosed Diseases Network at Vanderbilt University Medical Center.
The Undiagnosed Diseases Network is funded by Congress. First, researchers comb through the patient’s medical records.
“That process in itself can take two to three months,” Hamid said.
Then, a team of clinical specialists decodes the patient’s genome, looking for clues.
“We want to get a very comprehensive picture of what is going on,” Hamid said.
The answer may come quickly or it may take years. But the goal is to give the patient the best possible hope.
“We will continue to do research on these patients and you will get clues,” Hamid said.
In Anneliese’s case, they’re getting closer, honing in on the gene that caused her disease.
“I think every parent of a child with a rare disease hopes for a treatment and a cure,” Sutermeister said.
Anneliese is in a stable disease state and is starting kindergarten in the fall. The Undiagnosed Diseases Network has expanded to seven clinical sites across the country and is free to patients whose cases are accepted.
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