Southwest Florida geneticist discovers chromosome disorder

“I was looking at individuals with birth defects, intellectual impairment and things like that,” said Dr. Katy Phelan.

Genetic disorders are caused by an abnormality or mutation in one or more genes. Down’s syndrome is one of the better-known examples, but more are being discovered all the time. A geneticist with Florida Cancer Specialists & Research Institute knows—she discovered one.

In 1988, Dr. Katy Phelan was introduced to a little boy who presented as a medical mystery. A genetic sleuth, she was part of a team who dove into his DNA.

“And we found that he had a deletion, a small piece of chromosome 22 that was missing, and we hadn’t seen that literature before,” Phelan said.

After publishing her findings, several families came forward, hoping this would explain similar traits they saw in their own children. Carla D’Imperio and her husband noticed something unusual about Matthew, their 8-year-old middle child. “He was very unique from the start, and there were some little things right off the bat that were different.”

Outward signs included: poor muscle tone, droopy and puffy eyes, along with long eyelashes. There are also associated cognitive and speech impairments, in addition to medical conditions including epilepsy and autism.

The degree of traits depends on the length of deletion in chromosome 22. Dr. Phelan knows better than anyone how this condition manifests.

“I think I have talked to more individuals with this syndrome than anyone else in the world,” she said.

It is why impacted families chose to name the condition after her, calling it Phelan-McDermid syndrome.

Giving it an official name and diagnosis helps families understand and process the syndrome.

“We had a reason for some of the things that have been going on with [Matthew],” Carla D’Imperio said. “We also found great support in knowing that we had a community where there were people working on answers.”

They are still learning things about Matthew. Slow to walk and non-verbal, the family said he is happy, enjoys his siblings and watching videos on his digital devices. He also has a wicked sense of humor. “There’s a little bit of a mischief element to Matthew,” said D’Imperio, “where he kind of likes to see people’s reactions with different things and see what he can get away with.”

Dr. Phelan, who helped connect and establish the Phelan-McDermid Foundation, tells WINK News there is research being done to find treatments for some of the related medical conditions.

“Some of it is repurposing already FDA-approved therapy, so some therapy that might be used for diabetes might be able to be repurposed for some issue in these children,” Phelan said.

There is no way to correct this mutated gene, but the families like to say they are “Phelan lucky.”