A distraught mom is raising awareness about the rare disease that causes her daughter to “forget to breathe” — and face death while sleeping or watching her favorite cartoon.
Star Bowyer, 48, and her husband Andrew Bowyer, 44, are required to maintain 24-hour-care for their 6-year-old daughter, Sadie, as she suffers from Congenital Central Hypoventilation Syndrome (CCHS).
The obscure neurological disorder — with only around 1,000 documented cases, including Sadie —is characterized by inadequate breathing during sleep and in more severely affected individuals, during waking periods as well, according to experts Johns Hopkins University.
Normally, the body’s autonomic nervous system controls different body processes — heart rate, breathing, blood pressure — but having this disease leaves those “spontaneous” survival mechanisms impaired.
“Every single night, Sadie could die within minutes,” her mom told Kennedy News. “Her brain can forget to breathe and send signals for the heart to beat.”
Star said her adorable tot stops breathing if she concentrates too hard or dozes off, like when she watches “Peppa Pig” on television.
Sadie’s mom and dad have to hook her up to a life support system every night as she falls asleep.
“If she concentrates really hard, she’ll stop breathing,” Star said. “She starts turning blue, she gets tired from carbon monoxide retention and she’ll go very still. I immediately put her on the ventilator.”
“But it’s not just about Sadie, we want to give all the other kids a chance.”
‘It’s not just about Sadie, we want to give all the other kids a chance.’
Star Bowyer, 48, on raising awareness of Congenital Central Hypoventilation Syndrome (CCHS)
Her mom explained that she had a healthy pregnancy with Sadie, but soon after she was born, the baby girl had to be resuscitated and spent six months in the intensive care unit at the hospital.
Star said that doctors didn’t know exactly what happened to her, and kept running genetic tests to try to figure it out.
“They said she was healthy and it was probably a respiratory infection or she swallowed some fluid,” Star said.
However, she was later diagnosed with CCHS, and had to have a tracheotomy inserted in her neck to help her breathe at just 2 months old.
Star said that kids often make fun of Sadie for her tracheotomy, and she begs her mom to take it out.
The Bowyer family is raising money via GoFundMe to try to help pay for a life-changing surgery for Sadie, which would entail having her Phrenic Nerve Pacers fitted to let her be able to breathe freely without the tracheotomy.
They are hoping to raise nearly $200,000 for the surgery, and they want to have her fitted before she is a teenager.
“It could change her life. It wouldn’t matter if she fell asleep,” her mom said. “She could stop breathing in her GCSE exams so we’d have to put her in a room on her own with a ventilator which is embarrassing. The pacers would help her be like any other kid.”
She also added that when her daughter is a bit older and starts going out drinking with friends, she would be able to fall asleep and not have to worry about having to be hooked up to the ventilator beforehand.
The family recently moved to Dubai, and sold their house in England to contribute to the funds they need for Sadie’s surgery.
In Dubai, Sadie’s dad Andrew works as a director of strategy, and because of that, they receive private health insurance.
However, through it all, Sadie remains positive and is “miss independent,” her mom said.
“Sadie’s a spitfire, she’s got a great sense of humor. She’s cute as anything, she looks like a doll,” Star continued.
“But it’s not just about Sadie, we want to give all the other kids a chance.”
What is CCS?
- Congenital Central Hypoventilation syndrome (CCHS) is a condition affecting how the autonomic nervous system manages breathing.
- The autonomic nervous system controls a number of bodily processes, such as heart rate, blood pressure, breathing, digestion of food and body temperature. These processes happen automatically without us having to think about them.
- In CCHS, the normal safeguards, used by the autonomic nervous system to control breathing, are impaired. When breathing is shallow while asleep, the levels of carbon dioxide in the blood increase, which stimulates a breath. In CCHS, this stimulus does not occur and breathing can stop.
- In the majority of people, this only happens while asleep, but for people with severe CCHS, it occurs all day every day and may be particularly evident when feeding (particularly in infancy) or when concentrating. If untreated, CCHS can lead to disability and death.
— Great Ormond Street Hospital