Fun Run Raises Awareness About Rare Genetic Disorder

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Having a child with a rare genetic disorder can be daunting, but parents are finding strength in numbers and getting together to raise awareness and money for research. A Maryland mother is making strides to help her daughter and others like her with a big event this weekend.

Skylar Welch loves soccer and playing with her companion dog, McGraw, who is never far from her side. Her parents say he’s made a huge difference several years after she was diagnosed with a rare genetic disorder.

“When Skylar was born, probably around 6 months, she wasn't hitting milestones the typical kid would,” said her mother, Lori Welch.

Her parents searched for clues and doctors ran test after test, but it wasn’t until Skylar was 8 that they got a diagnosis: a condition called DDX3X syndrome.

“When Skylar was diagnosed, there were only 50 cases known worldwide, and there are now close to 900,” Welch said.

DDX3X causes developmental delays and almost exclusively affects girls. Symptoms range from movement and speech impairment on the mild end of the spectrum to others who aren’t able to walk or talk and have severe intellectual disability and seizures.

“We've learned so much,” Welch said. “Skylar is now a part of studies that are happening all around the country, trying to understand more about this rare genetic mutation, and we keep on meeting more and more families, not just here in Maryland, but all around the world, actually.”

For parents like Lori and Jamie Welch, there’s comfort in knowing they’re not alone. They draw inspiration and hope from a Facebook support group and by meeting other families going through the same experience.

“It has helped a lot of folks who do get the diagnosis and are kind of nervous and scared and don't know what to do, and they have kind of a sisterhood and a tribe of people to help them, and I think that's really been beneficial for most of us,” Welch said.

Together, that tribe has been raising awareness and money for research with events including a fun run and raffle this Sunday at Georgetown Preparatory School.

They hope getting the word out and connecting with other families will lead to future treatments that could one day change their child’s life.

“If we get enough awareness and enough funds raised, then we hope that some pharmaceutical … this will peak their interest and help us find some different therapies to help our kids develop and grow and be amazing,” Welch said.

“I always say that the sky's the limit because, you know, this is Skylar and we just don't know what she's capable of doing, so we just don't put any limitations on it,” she said.

Doctors say up to 3% of girls with an unexplained intellectual disability or developmental delay most likely have the DDX3X mutation, but not everyone has access to the type of genetic test that’s needed to get a diagnosis.

Learn more about this weekend’s fun run here.

Show support Sunday at Georgetown Prep off Rockville Pike from 9 a.m. to 11 a.m.

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