A baby who was diagnosed with cystic fibrosis at just 20 days old and has the rarest of two billion genotypes – which means “he’s more likely to win the lottery twice than once” – is being helped to survive Funding is needed for new treatments to “close to a normal life”.
Jason Moore’s son Luca, a “happy, chatty” and “vocal” 19-month-old, was diagnosed with cystic fibrosis (CF) — an inherited condition that causes sticky mucus to build up in the lungs and digestive tract — nearly Three weeks old after blood test.
Jason, 34, a personal trainer, and his partner Becky, 31, a pediatric nurse, have to give Luca several different medicines every day and assist him with physio sessions, which include helping to clear mucus To do this involves moving his body, which is akin to “glue”, from his lungs.
couple living in southampton“Chase him around the house, throw him in the air”, and “toss him around”, the more he laughs and coughs, the easier it is for him to breathe.
While Luca is “always smiling” and loves being outside and playing football, Jason said his son is among the 10% of people with CF who currently may not benefit from modulators — a form of treatment for the condition — or are unable to take them for side effects.
This is due to their rare genetic makeup – their genotype – which Jason said makes them “one of four in the world”.
Jason is on a mission to raise funds for research into new treatments that could help change Luca’s life “for the better” – and he recently took part in the 2023 TCS London Marathon, raising £1,000 for the Cystic Fibrosis Trust Received donations of over 4,000. ,
“We’ve learned that the drugs that are working wonders for people, unfortunately, don’t seem to benefit from Luca,” Jason said.
“It’s because there are so few people with her genotype, just not enough testing has been done … But we’re not going to stop until she gets that advantage.
“Our hope for Luca’s future is that he is happy and able to fully enjoy life and experience the world and all the opportunities that he deserves.”
Luca was born on 4 September 2021 without complications, but within the first few days of his life, Jason and Becky noticed that he had begun to “tense” and strain his organs.
The couple were reassured by doctors that it was “completely normal,” but a few days later, when Luca was 20 days old, they received the heartbreaking news that he had CF.
This was followed by blood spot screening, also known as the heel prick test, which involves taking a blood sample to find out if the child has nine rare but serious health conditions.
“It was tough,” Jason said.
“To be honest, it’s all a blur, what exactly happened at that time.
“We were told everything, the worst possible outcome, and then they said, ‘This is how we combat A; this is how we combat B,’ and they broke all his drugs.
“The first few days were all new to us and him, but literally, after a couple of weeks, it became second nature … and we didn’t have it any other way.”
The diagnosis was a “huge shock”, but Jason and Becky were then told that “there are only three other recorded genotypes like Luca’s, so he is one of four in the world”.
Jason said Luca inherited two different cystic fibrosis genes from each parent, both of which are rare, and those genes together are extremely rare.
He said the discovery, days after the CF diagnosis, was “crazy.”
“He has such a rare genotype, it’s basically unheard of,” Jason said.
“It’s crazy to hear that she’s more likely to win the lottery twice in a row than she actually is with her genotype.
“So, for that reason alone, I think he’s going to be a special kid.”
Luca has to take several different medicines per day, including antibiotics; Creon, which aids digestion; Salt; an inhaler to deliver medicine directly to the lungs; and omeprazole to treat reflux.
He has physio sessions at least twice a day to help clear congestion in his lungs and chest, and monthly check-ups at the Royal Hampshire County Hospital in Winchester.
According to the Cystic Fibrosis Trust, people with CF are vulnerable to a variety of bacteria that can be harmful, so Luca’s hygiene is of the utmost importance – and the risk of contracting an infection keeps her from doing certain activities.
Jason said that his son cannot play in paddling pools, rivers or sandpits, and cannot use bath toys that have holes in them because of the risk of bacteria, such as Pseudomonas, growing.
This poses a challenge for the family but Jason and Becky try to find a balance so that she doesn’t “get left out”.
Jason said, “I’ve always dreamed of being a little boy who’s just going to play and get my hands dirty – go out, fall and just get up again.”
“But now whenever I see him fall, I think, ‘Oh, I need to go and wipe his hands’.
“I never really wanted to be a father, and I’m sure Becky didn’t want to be that kind of mother, but it’s definitely affected me mentally.
“It’s trying to find a balance so that it doesn’t get missed.”
Jason said Luca is “always smiling” and “trying to make everyone laugh” despite living with CF — and he wants to “let her live as long as possible” without too many restrictions.
This inspired him to run the London Marathon to raise awareness of CF and to help raise funds for further research into new treatments that would allow Luca to live a more “normal” life.
They completed the race in three hours and 56 minutes and have so far raised over £4,000 – but Jason and Becky don’t want to stop there as they are hoping to double that figure and organize a CF charity golf day are doing.
Jason said that Luca is “a very smart boy” and “already has a real understanding of life”, but that having access to the right treatment would change his life drastically and become “better” than he would not need as many drugs. Will have to take and his lung function will improve.
“He is lovely; Everyone who meets her just loves her,” Jason said.
“My dad told me that where he lacks in something, which is apparently his CF, he’s going to make up for it in something else, and I think he really will.
“Getting access to the treatment she deserves will change daily life for her in a way where she doesn’t have to take as much medication, and her lung health will improve.
“So it would be very close to a normal life.
“He will still have to be aware and conscious of his surroundings, and set some rules for himself as he gets older, but daily life will definitely change for the better.”
To find out more about next year’s 2024 TCS London Marathon and how to run for the Cystic Fibrosis Trust, visit: www.cysticfibrosis.org.uk/2024-tcs-london-marathon.