LI Mom Creates Foundation Based On Son's Rare Condition

BELLMORE, NY — Aimee Reitzen is a Bellmore mother of three boys. Her 6-year-old, Will, is believed to be the first person in New York state diagnosed with an extremely rare genetic disorder called KAT6A syndrome.

"It was really shocking to us," Reitzen told Patch.

He was diagnosed at age 1 and, at the time, was one of only a few dozen known cases in the world.

Each person with KAT6A syndrome has a different mutation along the KAT6A gene, which leads to a wide range of symptoms and features, including neurological issues, feeding difficulties, vision problems and heart defects, according to the KAT6A Foundation website.

"Universally, every single child has developmental delays," Reitzen said. "Especially, speech. That is the No. 1 thing that they all have in common."

Reitzen and her husband were faced with the realization of their son's disorder and were at the forefront of a Facebook community and a support group. They were instrumental, along with a few other parents, in creating the KAT6A Foundation in 2017, which eventually began raising money for research.

For Reitzen, a former New York City school teacher, running the foundation and website has been cathartic.

"It's truly been the most challenging work I've ever done in my life, but the most rewarding," she said.

The foundation has also orchestrated grants for families in need.

Since Sept. 25, the foundation has been holding its fourth annual KATwalk to raise awareness. This Saturday, Reitzen is participating in the Long Island walk.

Reitzen's son is in first grade at Martin Avenue Elementary school, in a self-containing special education class, capped at eight students. Will has a one-to-one aide. He's slower than a typical first grader, but "he's coming along much more than I thought when he was diagnosed," Reitzen said.

Technology helped her son as she learned about iPads with special communication software.

"This has literally changed our lives," she said. "Now Will can tell us exactly what he wants to eat for dinner, what show he wants to watch on TV. It's been amazing."

But Reitzen has her hands full caring for her son, who "doesn't really understand danger," and it can be "exhausting and stressful."

A second Long Island family, whose son has KAT6A syndrome, connected with Reitzen two years ago.

"This is what I was waiting for, to find somebody else that knew what we were going through," Reitzen said.

As advances in medicine are being made all the time, Reitzen said it is easier for families to have a diagnosis instead of it being a mystery ailment.

While some of the children are severely disabled, in a wheelchair or on a feeding tube, Reitzen said that is no longer common.

To date, the foundation lists 334 known cases of KAT6A worldwide.

"Now as time moves on, we keep seeing more milder cases," she said.

Getting a clearer picture of who is affected by KAT6A and how, the foundation started a registry where parents can fill out a medical survey.

"It's been huge for us and being able to inform families," Reitzen said.