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Spreading the word about Coffin-Lowry Syndrome


The Nice family, of Newark, has found support for their sons after a rare diagnosis.


Ashley and Matt Nice recently got tattoos of a red apple with a yellow heart in the center.

Most people wouldn’t recognize it as the symbol of the Coffin-Lowry Syndrome Foundation, but the image is very meaningful for the Newark couple.

Three of their four children, Quinten, 7, Liam, 4, and Isaac, 2, were diagnosed with the rare genetic syndrome, after years of searching for answers.

They believe they are the only family in Ohio affected by the syndrome, but are hoping to raise awareness to help others.

“Our hope is that this gets out there more,” Ashley said. “We hope others will get answers sooner than we did.”

Growing up in Knox County, Ashley had a younger brother who was diagnosed with spinal muscular atrophy. So she had some understanding of rare diseases and the role their local county board of developmental disabilities played in supporting her family.

But she saw a new side of that when her oldest son Quinten began showing delays.

“He didn’t walk or talk or crawl, he wasn’t sitting up, there were delays all over the board,” she said. “All three of our boys were like that.”

Quinten and his two brothers were each referred to Early Intervention, which is offered by the Licking County Board of Developmental Disabilities in the homes of children, birth to age 3, with developmental delays, disabilities or medical conditions likely to result in delays.

Services by LCBDD team members are provided at no cost to Licking County families.

All three boys received support from an LCBDD developmental specialist. They received speech, occupational therapy and physical therapy and all three of them began walking sometime near their second birthdays.

“We just appreciated their help, them coming out and playing with the kids,” Ashley said. “Giving us options and things to try has been helpful.”

While the boys were working on meeting milestones, their parents were trying to find a diagnosis for their three sons, who had strikingly similar features.

At first they were told it was a global development delay, but they kept pushing for more answers.

When Isaac was born, the entire family went through genetic testing. The diagnosis of Coffin-Lowry Syndrome was so rare the doctors at Nationwide Children’s Hospital had to research the condition.

“They hadn’t seen anyone like this,” Ashley said. “No one else in Ohio that we know of has it, as far as we know.”

People with Coffin-Lowry Syndrome typically have intellectual disabilities and difficulties with speech and coordination. Some can have heart problems and many have similar craniofacial features.

As soon as they found out their sons’ diagnosis, Ashley searched and found the Coffin-Lowry Syndrome Facebook page. She was able to communicate with other families and find out about upcoming family gatherings.

“It was such a relief. We were immediately welcomed as family,” she said. “It was like we were home.”

Since the disorder is so rare, it’s hard to know what the Nice brothers’ medical needs will be as they age. But Ashley said it is helpful to know that LCBDD will be there to help their family plan for the future.

All three boys have an LCBDD service coordinator. Their family uses Family Support Services funds for memberships to the Licking County Family YMCA, where they enjoy swimming. LCBDD has also helped with respite and mileage for medical appointments.

Although Isaac is the only family member still receiving Early Intervention services, his developmental specialist, Diane Dodson, has been a source of support for their entire family, Ashley said.

She said they encourage other families to contact LCBDD is they have questions about their child’s development.

“It’s been great,” she said. “Over the years, they’ve been able to give us different ideas all the time.”

For more information about Early Intervention in Licking County, go to lcountydd.org/early-childhood/.


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