LOUISVILLE, Ky. — Louisville's iconic Big Four Bridge will light the Ohio River with pink, green, blue, and purple hues on Thursday. It'll mark Rare Disease Day, putting a focus on 30 million Americans affected by rare diseases. 16-month-old Greta Wermeling is one of them.
The Louisville toddler stops breathing every time she falls asleep. It's why a ventilator follows her wherever she goes.
Greta suffers from Congenital Central Hypoventilation Syndrome (CCHS), a rare condition with around 2,500 cases in the entire world.
"Part of her brain stem doesn't work properly, so when she falls asleep, her brain stops sending signals to her diaphragm telling her to breathe," Dr. Ryan Wermeling, Greta's dad said. "Same when she eats. There's something with that coordination of eating, swallowing and breathing, it just doesn't quite work."
Born six weeks premature, her parents thought the breathing issues would be temporary.
"Sometimes that can happen but she wasn't getting better," Dr. Wermeling said.
"When you go through a pregnancy and everything's normal, and you have your regular checkups, and they say, everything's great. It was definitely scary," Maddie Schueler, Greta's mom said. "It became clear something else was going on."
Greta was immediately hooked up to a breathing tube and taken to the NICU at Norton Children's. Her diagnosis came 17 days later.
"This definitely threw us for a loop," Schueler said.
She received a tracheostomy within a week, which connects to a ventilator whenever Greta's at risk of falling asleep.
"A lot of people at the hospital would tell us, I've never heard of this before," Schueler said. "It makes you wonder what resources are out there, what treatments were out there."
"Only one of our pulmonologists at Children's downtown had ever seen a case," Dr. Wermeling said. "It was new for them too, so some of them learned with us how to figure this out."
"I remember when they first told me, you're going to learn how to change it, how to suction her if the trach gets clogged, and I just thought, how on earth am I going to do that? I'm not a trained medical professional. But you learn. Now it's second nature," Schueler said.
Schueler acknowledged how fortunate they are to have nurses at home most days and nights, which isn't as easily done if you live in rural areas with little access to help.
Today, Greta seems unbothered by her condition.
"She's a typical toddler," her mom said. "She's definitely getting that personality. A happy baby, starting to babble and make noises around her trach.
As long as Greta's awake, she's free from the ventilator, though it's never far away.
"Every parent worries about their kid, but it hits a little bit differently when you know that all it takes is falling asleep on the couch or one night of accidentally falling asleep without her equipment and she could fall asleep and not wake up," Schueler said. "I do think each stage of her life will bring new challenges. Fast-forward a few years, she's going to want to do a lot of things other kids do, like swimming, or sleepovers and we're going to have to tell her she can't do certain things because of her condition."
As rare as CCHS is, Greta's parents say she's one of the lucky ones. There are options on the horizon, when she gets older.
"Just like people can get a pacemaker in their heart, you can get a pacemaker for your diaphragm. So, that's something that as she gets bigger, she may be a candidate for," Wermeling said. "It seems to be kids get them before they go to school so they don't have to take their ventilator, so we'll talk more about it when she's 5 or 6."
Wermeling knows of one family in Lexington, and a couple people in Indiana living with CCHS. They're a close-knit family in a Facebook group, but spread out across the world. Greta's parents hope her story will help bring awareness and funding to the hundreds of rare diseases often forgotten in the world of medical research.
"Medical innovations tend to focus on helping a lot of people all at once, which makes it harder for people with rare conditions. We want to bring that to everybody's attention," Wermeling said.
►Contact reporter Brooke Hasch at bhasch@whas11.com. Follow her on Twitter (@WHAS11Hasch) and Facebook.
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