WOODFORD COUNTY, Ky. (LEX 18) — A Woodford County family has beaten the odds, but not in a way they want.
A father and all three of his children have been diagnosed with a very rare syndrome - Loey Dietz Syndrome. It's a genetic connective tissue disorder.
"It raises an awful lot of uncertainty as far as the path going forward," said Sean Anderson, who was diagnosed last month.
Sean and his children Zoey, Lucy and Myles were diagnosed in March after mysterious symptoms for a large part of Sean and the childrens' lives finally unearthed a diagnosis.
"I deal with severe chronic pain in my back and my chest," said 17-year-old Lucy.
Lucy was the first to get the news. She has battled scoliosis and pectis malformation since she was young.
"It was so relieving. It was like realizing what was going on with me and moving on from that point knowing what possible things we can do about it," she said.
However, Loey Dietz Syndrome can be deadly. It can cause an aortic aneurysm in the heart. Because of that, the family wears medical alert bracelets.
"I think that's important to advertise. If I'm in a critical situation that's critical information they need to have," said Sean.
The continuous care is extremely expensive, and so the family has organized a GoFundMe.
"What it looks like going forward is that all of us are going to be regularly having MRIs, echos, CT scans," Sean said.
Sean's granddaughter, Eleanor, who is nearly two, may also be facing the same diagnosis.
"We were going to have more, but now it doesn't feel like we have the freedom to just choose that if we want," said Zoey, Sean's daughter and Eleanor's mother.
Loey Dietz Syndrome only affects about one out of every 150,000 people, according to the Anderson family, but Lucy tells LEX18 it doesn't mean you should discount the possibility. She's an advocate for speaking up.
"I hope that they're willing to talk to people about it and not just keep it to themselves, like I did for the longest time," said Lucy. "It did not help. Go to the doctor, even if that doctor thinks nothing is wrong, go to another one. If you know something is wrong, don't just sit with it."
To visit the Anderson family's GoFundMe, see this link: Support for Anderson Family Facing Loey-Dietz Syndrome
