NASHVILLE, Tennessee – A new network of researchers are trying to crack medical mysteries across the nation.
It could leave an impact on thousands of families.
"She's actually the most determined person I've ever met."
Gia Sutermeister 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," said Gia.
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," explained Dr. Rizwan Hamid, professor of pediatrics at Vanderbilt University's Undiagnosed Diseases Network.
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," said Dr. Hamid.
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."
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," vowed Dr. Hamid.
Any patient who has a disease without a diagnosis can apply at https://undiagnosed.hms.harvard.edu/apply/.
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," said her mother Gia.
Anneliese is in a stable disease state and is starting Kindergarten in the Fall.
GOALS: One of the key goals of the network, as they identify rare presentations of known disorders is to put that information out, either on their website, their social media pages, in medical journals or present the findings at national meetings. Dr. Hamid says, "The idea here is that there are not enough doctors in the United States specializing in rare disease diagnosis and management to take care of all the patients. The idea is as we find things, as we gather knowledge is to send that knowledge out with a defined protocol."
The Undiagnosed Diseases Network has expanded to seven clinical sites across the country and is free to patients whose cases are accepted.
The clinical sites, where UDN participants are evaluated, are located at: Baylor College of Medicine in Houston, Texas; Duke Medicine in Durham, North Carolina; Columbia University Medical Center in New York, New York; Harvard Teaching Hospitals (Boston Children`s Hospital, Brigham and Women`s Hospital, and Massachusetts General Hospital) in Boston, Massachusetts; National Institutes of Health Clinical Center in Bethesda, Maryland; Stanford Medicine in Palo Alto, California; University of California, Los Angeles in Los Angeles, California and Vanderbilt University Medical Center in Nashville, Tennessee.
If this story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Jim Mertens at firstname.lastname@example.org or Marjorie Bekaert Thomas at email@example.com.