Family coping as daughter suffers from rare genetic disorder

Augusta Chronicle - 7/8/2017

July 08--BEECH ISLAND -- The brand-new bright pink wheelchair sits in a corner in the darkened living room while 5-year-old Kylee O'Shields sits in the old one in the living room. There is an improvised foam padding to cover the metal where the headrest fell off and "she loses a piece of her wheelchair wherever she goes," said her father, Rick.

The O'Shields like the new wheelchair provided by South Carolina Medicaid but "it's just too heavy" and the family is trying to raise money to buy a wheelchair van for the nearly daily trips the girl must make to doctors appointments and therapy. It is just the latest challenge for a family with a girl born with a very rare genetic disorder.

Kylee has Bohring-Opitz syndrome and it is a bit of a mystery how many other children there are like her. The Genetics Home Reference of the National Library of Medicine cites two previous studies, one of which includes Kylee, of 40 documented cases worldwide. But the O'Shields are part of a Facebook support group for parents of children with the syndrome and they think there is closer to 100 worldwide.

The syndrome is caused by a gene mutation and children with it often have distinctive eye and skull shapes, developmental delay and poor muscle tone, among other health problems. In Kylee's case, when she was born she was diagnosed with a joint disorder but after the family started a Facebook page for her that got international attention, other mothers messaged her to tell her to look into different syndromes.

A blood test sent to a lab in the Netherlands turned up the genetic defect. The syndrome also has a high prevalence of a particular kidney cancer called Wilms tumor and when the family had her checked there was one already covering 75 percent of her kidneys. Quick treatment probably saved her life, but the family said it showed divine intervention.

In recent years Kylee has nearly doubled in size to about 50 pounds, making it difficult for her mother to get her in and out of their current van as well. Medicaid will help pay for a conversion of the current van but it already has 115,000 miles on it and the family is wary of putting all of that money into a van that won't last.

The family has started a GoFundMe page and will hold a fundraiser July 29 at Midland Valley Community Church of the Nazarene. They think it will take about $50,000 to get a suitable van.

Because the syndrome is so rare and because each child is different, there is no roadmap for the family to follow on what Kylee's future might hold. She can't crawl or walk but her therapists are working on strengthening her legs and use a type of walker to get her hips used to standing. One mother of a child with the syndrome proudly posted a photo of her daughter sitting up for 30-40 seconds.

"We share in the achievements," Laura O'Shields said. The support group allows them to keep in touch and offer advice. When one child had problems with constant vomiting, something Kylee went through, "I was able to suggest things to them," Laura O'Shields said.

Sometimes, when they are out with Kylee in public, people will offer their sympathies but Laura O'Shields has a polite response to their pity.

"Why?" she asked. "She's fine. She's growing. She's happy."

Reach Tom Corwin at (706) 823-3213

or tom.corwin@augustachronicle.com.

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