Most parents will have anxieties when their child is born, but only in extreme cases would they ever worry that their baby might pass away. However, for the Bowyer family this fear is very real because six-year-old Sadie Bowyer has congenital central hypoventilation syndrome (CCHS) – an extremely rare condition that affects only around 1,200 children worldwide.
While she has perfectly healthy lungs, her autonomic nervous system doesn't function properly – meaning at any moment she can "forget to breathe". Every day is a minefield as even concentrating too hard can cause her to stop breathing, leaving parents Andrew and Sthar "scared".
Sthar, 48, told The Mirror: "She doesn't understand why she can't do a sleepover. She doesn't understand why she can't go swimming – she's got a hole in her neck, she can't go swimming. I can't just let her go with her friend for pickup for a playdate after school in someone else's car.
"How do you explain all this stuff and answer her questions like 'Why do I have a trach[oestomy]' and 'why do I have to have a machine to make me breathe' and 'am I going to die?'. That's a really hard question to answer."
CCHS is caused by a rare mutation, discovered in 2003, on one specific gene that is responsible for nerve development in early pregnancy, which impacts a person's automatic breathing. The gene randomly develops the fault rather than being inherited, although it can be passed down if a parent already has CCHS.
There is currently no cure for the syndrome, but it is possible to get a diaphragmatic pacer fitted to regulate breathing, similar to a heart pacemaker. The NHS does not offer this treatment so the family are fundraising to pay for the first of its kind in the UK surgery.
For the Bowyers, there was no history of any genetic issues, although Sthar was being monitored carefully after a previous miscarriage. Sadie was born at 36 weeks, breech and spinning in too much fluid, and she had to be resuscitated immediately after birth. After six and a half months of tests and living under intensive care with no answers, the family moved to Birmingham Children's Hospital for further support.
The mum-of-two said: "Andrew got diagnosed with PTSD and hypersensitivity because of the alarms at Birmingham Children's. In intensive care you're living and breathing all [the other parents] pain and anguish as well as your own pain. You would be hearing their alarms and hearing the crash carts running and you'll be hearing when a parent loses their child. All that does is panic you as to what's going to happen with my child."
Sthar breaks down as she shares how Andrew, 44, would read Alice in Wonderland to their daughter every night after finishing work, while she would spend time with older daughter Seren, 10. She described the situation "like a grenade thrown into your family".
CCHS, historically called Ondine's curse, varies from incredibly mild symptoms, where the condition might go undetected until suddenly someone is lost, to more extreme cases. Sadie sits in the middle of this, with a pacemaker to make sure her heart beats and a tracheostomy to force her lungs to breathe.
Kids are also given masks to aid breathing, but the tracheostomy is more reliable, although a carer still has to watch Sadie at all times, even when sleeping to make sure it doesn't dislodge.
"Children, unfortunately, are not the kindest when it comes to a tracheostomy," shared Sthar, "About four weeks ago, we had kids teasing Sadie in the playground saying to her, 'What's that on your neck? That's disgusting. That's so ugly, you're disgusting'.
"She came to me and she's cuddling me and crying, begging me to take the tracheostomy out. I stupidly took it out because we do when she's awake, she doesn't need it.
"Sadie ran away from me and I hadn't got a plaster to put over it. She ran up to these other kids going 'Look, I've taken my trach out'. They could see a hole in her neck, that just set them off even more."
Sthar quit her job to care full time for her daughter but carers are still needed in the home at all times, disrupting their life, Seren's life, and impacting Sadie's ability to relax and just be a child. Giving Sadie a normal life is at the forefront of the Bowyers' fundraising efforts, as they are conscious that she has reached an age where she wants some independence - which right now she cannot have.
The ventilator for Sadie's breathing currently can become dislodged plus it only lasts eight hours at a time and is dependent on electricity, meaning she can't do fun things like camping or sleepovers. This independence is why the family is desperate for a diaphragmatic pacer, which has a battery life of three weeks and wouldn't be as visible as the tracheostomy.
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It's not just her immediate quality of life either, the pacer would totally change Sadie's ability to live away from home and be "normal". Sthar worries about the possibility of university, as she knows four CCHS sufferers who went but didn't put their ventilator on after a night of drinking and sadly passed away in their sleep.
She added: "Things like doing your exams and concentrating really hard, Sadie would have to go on her ventilator. Is she embarrassed by going into an exam on her ventilator or does she go into a private room? Both affect her mental well being." The pacer would allow Sadie to "have all of these independent experiences and to live independently", but it's not available on the NHS.
Sadie would be the first person in the UK to have this kind of treatment for CCHS, setting precedent for the 60 to 100 other patients living here. Dr Martin Samuels, a Respiratory Paediatrician from Great Ormond Street, has been helping the family and plans to use this a landmark case to push for this lifechanging treatment to be made available to those that need it.
The treatment costs £160,000, which Sthar claims is still cheaper than the total care package they are on currently. This has been funded through the sale of their house, Andrew taking a job in Dubai with private healthcare coverage, support from Bupa, and the GoFundMe.
"We've sacrificed a lot as a family to try and make this happen," said the mum, "As Andrew says, who needs a pension."
Little Sadie is "really excited" at the possibility of having her tracheostomy removed as she "hates" it, although Andrew and Sthar are having to "manage to expectations". Sthar added: "I think she thinks she's walking out of the hospital without the trach in her neck."
Things wont be that immediate, should the surgery go ahead, but within a year Sadie should be able to live more freely and even have the hole in her neck closed and the tracheostomy removed. Sthar said: "We all live in the same shoes and we all want the normal life for our child."
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