CORAL GABLES, Fla. – Data from the national institutes of Health Rare Diseases Research shows that people with rare disorders can take years to properly diagnose, possibly losing precious time for treatment.
Now there’s a special clinic focused on identifying and ultimately providing medical care for previously unknown conditions.
“Mark is laughter, joy, he just radiates happiness.” That is how Michelle Saka describes her middle child.
She didn’t know until he was a toddler that he had severe autism.
Although he’s non-verbal, Saka understands him perfectly.
“This kids disposition, he’s a ball of sunshine,” she said.
When Mark started exhibiting aggressive behavior, Saka enrolled him in a new ‘Undiagnosed Disease Clinic’ at Nicklaus Children’s Hospital.
“The demand is there and we are trying to meet the demand because although now these diseases are rare and not diagnosed, with the newer treatments coming up we can always diagnose and treat them,” said Dr. Parul Jayakar, Director of the Division of Genetics and Clinical Metabolism at Nicklaus.
Jayakar was instrumental in starting the clinic in April 2023.
“We have a team which includes a clinic coordinator, a genetic counselor, nutrition, social work, the palliative team and psychology,” she said.
And the clinic provides state of the art new testing for whole genome sequencing to help diagnose rare diseases.
“We can do rapid genome sequencing if we think the child is, you know, we need the diagnosis soon and we can’t wait for two months. We can also do what we call ‘long reads’ where we’ve done other testing and we don’t have an answer,” Jayakar said.
In Mark’s case, a mutation was found in a gene thought to be related to obsessive-compulsive and anxiety disorders.
“So when you take a test like this and you find a new gene that science didn’t know about 3 years ago, 5 years ago and you get ‘oh this is something, this could be something, this could be a mark’, now that’s very exciting. It’s the beginning of an answer, it’s the beginning of a pathway to try to navigate giving him the best life possible,” Saka said.
According to the National Institutes of Health there are more than 7,000 rare diseases and approximately 80 percent are estimated to have a genetic origin.