Girl with rare syndrome brings visitor from Australia




Even before she was born, Laura O’Shields knew that her daughter, Kylee, might be different. She could not have guessed just how rare the girl would turn out to be.

Kylee’s story, spread through Facebook, won over a woman in Australia who is visiting her for a celebration Friday night.

Kylee was eventually diagnosed with Bohring-Opitz syndrome, which has about 40 known cases worldwide. A search of the literature turned up studies documenting 24 of those cases, and O’Shields said a geneticist in California, one of the few who know about the syndrome, has prepared another study with 15 cases, including Kylee’s.

How the girl came to the correct diagnosis defies the odds and reinforces her mother’s faith that God had a hand in it.

The last ultrasound screening before Kylee’s birth revealed she might have clubfoot – a foot turned inward and the ankle protruding, O’Shields said.

“We were all worried about clubfeet, thinking that was the worst thing in the world, researching treatment options before she was even born,” she said.

It turned out to be far more extensive than that. When Kylee was born at University Hospital, her legs were extended over her head and her wrists were flexed.

“She was pretty much folded,” O’Shields said.

Her original diagnosis was arthrogryposis or congenital contracture of the joints, a diagnosis that explained only part of Kylee’s symptoms. She had fluid on her lungs and continues to have breathing and feeding problems.

A second opinion said it wasn’t arthrogryposis, and genetic testing for a few other syndromes turned up nothing. Then a friend persuaded the family to start a Facebook page called Kylee’s Place, and a photo of Kylee smiling took off, getting “over 1 million ‘likes,’ ” O’Shields said.

That’s how it landed on the Facebook page of Toni Sloane of Nudgee, Queensland, Australia.

“I thought, ‘Look at this gorgeous little girl,’ ” she said. “And just clicked on the Facebook page. I’ve pretty much been talking and stalking them for the last two years.”

Then came the dresses. O’Shields gushes about the dresses Sloane has sent Kylee over the past two years.

“They’re gorgeous,” she said. Kylee was wearing one, a pink tutu with lace around the back, much in the “very girly” style O’Shields likes for Kylee. Sloane explained it this way:

“I’ve got a 21-year-old daughter, and I’m not allowed to buy clothes for her any more because I’m too much of a dag. A dag is someone who has no taste as far as her daughter is concerned,” she said, laughing. “I’m a bit of a shopaholic, so if I see something Kylee might like, I’ll buy it. It costs me as much money to post (mail) them here as it does to buy them, but who cares?”

The Facebook page is how Kylee was finally diagnosed. Mothers were constantly messaging O’Shields to tell her to research different syndromes that might explain Kylee’s symptoms. Finally, one pointed her to a syndrome that seemed to cover all of Kylee’s symptoms – Bohring-Opitz.

They had to send blood to the Netherlands for the test, but it turned up a mutation in the ASXL1 gene that showed she had the rare syndrome. The odds of that mother, Sheri Bermejo, whose daughter has the syndrome, seeing Kylee’s photo and pointing them in the right direction is why O’Shields believes it was divine intervention – particularly in light of what happened after the diagnosis.

“It was all God, the way He worked it out,” O’Shields said. “If we had not made the Facebook page to have someone contact us to find out what she was diagnosed with, we would have had no reason to look for the Wilms tumor she was diagnosed with only two months later.”

After the diagnosis, O’Shields spoke with a geneticist in California who was familiar with the syndrome; he advised checking Kylee every few months for the tumor, which children with the syndrome are prone to get. When they checked, there it was.

“She would have most definitely died a couple of months after that because her kidneys were already 75 percent covered” by the tumor, O’Shields said. Kylee did end up losing her left kidney and her hair to chemotherapy, but she pulled through.

The party tonight at the O’Shields’ church, Heights Church in Clearwater, is to celebrate her being cancer-free and also her third birthday, even if it already occurred in July. The party is also for Sloane, who flew 18 hours to be there, and who breaks down in tears when she tries to explain why.

“There’s something about her,” she said, tears filling her eyes as she looked at Kylee. “(Her father) Ricky and the whole family, they are just such beautiful people. I just wanted to meet them. If anything happened to her, I would just regret so much never coming to meet them.”


MORE INFORMATION: Bohring-Opitz-Syndrome
ON FACEBOOK: Kylee's Place