Meet the team – Nick
Nick and his wife Eleanor were shocked and confused when their baby Clemmie was born with a rare medical condition. After a long wait for a diagnosis, genetic research allowed a specialist to identify her condition. Now, Nick is training to run the Virgin Money London Marathon for Sparks, to help fund more vital research into child health that could give clarity to families like his.
Nick recalls Clemmie’s birth: “We had no idea of Clemmie’s medical conditions until after her birth. The pregnancy was relatively smooth and textbook and the sonographer at the 20-week anomaly scan had even described her as ‘perfect’.
“Within minutes of the cord being cut, Clemmie was struggling to breathe and was immediately whisked into the Neonatal unit where she was diagnosed, initially, with a cleft palate and Pierre Robin Sequence.
“The doctors took her away for what felt like hours,” Nick says.
Waiting for a diagnosis
After finding out the initial diagnosis wasn’t fully correct, the family had to wait for around 18 months before they found out the full extent of her condition and the cause of Clemmie’s difficulty breathing.
Nick adds: “She has distinctive facial features that are often associated with a variety of different conditions, which kept the consultants on their toes for quite some time.
“We were passed between five different hospitals during the first year or so of her life, all of which compartmentalised her different needs and operated in silos. Finally, an ear, nose and throat (ENT) consultant took charge when Clemmie’s breathing had deteriorated to further worrying levels and they contacted Great Ormond Street Hospital (GOSH) to seek their opinion as they are so respected for their ENT specialism.
“It was from there that GOSH took Clemmie, and indeed us, under their wing and transferred all elements of her care and treatment to be undertaken under one roof.”
Clemmie’s official genetic diagnosis of osteopathia striata with cranial sclerosis (OSCS) came when she was around 20 months old.
“The geneticist at GOSH was able to give a verbal diagnosis within one meeting, having previously seen the condition before, even though it’s thought to affect around one in 70 million.
“The condition is one carried in the X chromosome and is usually fatal in males. Genetic research was able to ascertain that Clemmie’s strain of OSCS was a spontaneous mutation in her and not one she inherited from either parent (known as ‘de novo’).
Explaining Clemmie’s condition in his own words, Nick says: “Because of her bone structure, she has a narrowing of the airways – hers are thinner and floppy so she can’t breathe properly, and no air can get through her nose. Hopefully this should get better as she gets older.”
To keep her airway safe, Clemmie has a tracheostomy, a tube held in a hole made by an incision in the windpipe, which makes it easier for her to breathe. This also means that she needs 24-hour care to make sure the tube doesn’t get blocked or pulled out.
Nick adds: “Clemmie’s diagnosis is life-limiting, but not life-shortening. She is unable to breathe without the safe airway of the tracheostomy, and exposed access to her airways means that she is at higher risk of infection and should avoid water and textures that may compromise her lungs such as sand, glitter and flour. Her speech is compromised due to her anatomy and the hearing loss associated with her condition.
“Much of her future diagnosis is unknown but the excellent developments into genetic research and a small but international online community of families with the same condition mean that more is known every day… Eleanor is in a WhatsApp group with 30 people from around the world who have children with a similar condition.
“When Clemmie has a cold it’s terrible, but we’re over the toughest part. Right now, she’s as good as she’s ever been. She loves to dance and sing – she’s a bit of a show-off actually!”
Hector, Clemmie’s older brother, is at primary school and Clemmie is starting this year. They’re hoping she can join him at the same school. They’re also expecting another baby girl in July! Thanks to genetic testing, the family has been told that their new baby is “clear of OSCS”.
But Nick’s next thing to focus on is the Virgin Money London Marathon, which he’s running for Sparks. He says: “It’s always been on my bucket list and the timing worked well. Soon I’ll get to a stage when I can’t, so now is the perfect time.
“At the Amsterdam half, I was taken aback by the crowd and how much they want you to finish. That’s what I’m really looking forward to. I think it’ll be emotional. I heard someone say they love running races as it’s the first time they’ve had someone cheering for them.”
Encouraging others to get involved, Nick says: “Don’t be worried about the amount of money there is to raise – if you have a link or a good cause, people will support you… I can’t see how Sparks can operate without support like this. Jimmy Hill isn’t around to champion it, there’s no government funding, and so it really relies on supporters.”
Thank you, Nick, for all your fundraising so far, and good luck on the big day!
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