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 giving hope to those with undiagnosed diseases.
“She’s actually the most determined person I’ve ever met,” said Gia Sutermeister.
Gia is talking about her daughter Anneliese who was born with neurological issues. But after dozens of tests, 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,” Gia shared.
Doctors estimate there are 30 million Americans living with a rare or undiagnosed disease.
Rizwan Hamid, MD, Professor of Pediatrics and Director of Division of Medical Genetics at Vanderbilt Undiagnosed Diseases Network said, “Even with the best of care, at the best medical centers, these patients never receive a diagnosis.”
It can be especially devastating for parents of children like Anneliese, with no answers in sight. At the Undiagnosed Diseases Network, researchers first comb through the patient’s medical records.
“That process in itself can take two to three months,” Dr. Hamid said.
Then a team of clinical specialists decode the patient’s genome, looking for clues. 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,” Dr. Hamid said.
He said they’re honing in on the gene that caused Anneliese’s disease.
“I think every parent of a child with a rare disease hopes for a treatment and a cure,” Gia 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. For more information please visit Undiagnosed Diseases Network.