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 researchers are now collaborating, hoping to find some answers for those with undiagnosed diseases.
"She's actually the most determined person I've ever met," Gia Sutermeister said.
Sutermeister is talking about her daughter Anneliese, who was born with neurological issues. But after dozens of tests, there is still 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.
Rizwan Hamid is a professor of pediatrics and director of division of medical genetics at the Vanderbilt Undiagnosed Diseases Network.
"Even with the best of care at the best medical centers, these patients never receive a diagnosis," he said.
It can be especially devastating for parents of children like Anneliese, with no answers in sight.
That's why Congress funded the Undiagnosed Diseases Network. 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 decode the patient's genome, looking for clues.
"We want to get a very comprehensive picture of what is going on," he 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 and 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 https://undiagnosed.hms.harvard.edu/ has expanded to seven clinical sites across the country and is free to patients whose cases are accepted.
Researchers look for clues to medical mysteries through the Undiagnosed Diseases Network
CIRCLE OF HEALTH