He knew something was wrong when he and his partner were trying for a baby
Simon Wade with his daughter
A man born with cystic fibrosis but not diagnosed until his 40s has said he would “still be none the wiser” about his condition if he had not experienced fertility struggles.
Simon Wade said his life “changed forever” in February 2023, aged 41, when he was diagnosed with cystic fibrosis (CF) – a life-limiting, genetic condition without a cure which causes a build-up of thick, sticky mucus in the lungs, digestive system and other organs.
The sales consultant from Devon had suffered with breathing difficulties since childhood, but having been diagnosed with asthma – a chronic inflammatory respiratory condition – he never suspected it could be anything else.
It was not until he and his partner Hannah were struggling to conceive that he underwent further testing – and this revealed he had the “DNA markers for cystic fibrosis”, which came as a “massive shock”.
Simon, now 44, is currently not taking any medication and has been advised by doctors that exercise is his best form of medicine, and he therefore decided to take part in the TCS London Marathon in April this year, raising nearly £3,000 for the Cystic Fibrosis Trust charity.
Now, having welcomed his “cheeky and smiley” daughter Ava into the world with the help of fertility treatment, Simon is determined to raise more awareness of CF and “seize the day and enjoy life”.
Simon with his partner Hannah and daughter Ava (Collect/PA Real Life)
“If my partner and I hadn’t been trying for a baby, I would still be none the wiser,” Simon told PA Real Life.
“For me, it made sense when I was diagnosed, but at the same time, you think, how many other people are out there that haven’t had that diagnosis?
“Mine was classed as asthma, or reactive airway disease, but ultimately it wasn’t – it was all down to the cystic fibrosis.
“But I’m a firm believer that things happen for a reason.”
Simon explained that he has always been “healthy, fit and active”, and he enjoys participating in sports.
He said he was told by doctors from a young age that he had asthma, but only now does he realise he was “evidently always misdiagnosed”.
“I had difficulty with breathing at times and I would always bring up mucus every day, but I had no idea these symptoms were all to do with the cystic fibrosis,” he said.
According to Cystic Fibrosis Trust, people are born with CF and cannot catch it later in life, and the condition affects more than 11,000 people in the UK.
CF is usually diagnosed shortly after birth through the heel prick test, also known as the newborn blood spot test, but since this test was only introduced across the UK in 2007, Simon did not have this when he was born.
He said he had heard of CF growing up, as a fellow student in secondary school died from the condition – but his knowledge was lacking at the time.
People with CF are susceptible to a range of infections and reduced lung function, which can have a huge impact on health and wellbeing.
“There was someone in my school who had cystic fibrosis and unfortunately lost their life to it when they were about 11 or 12 years old,” he said.
“So I’d heard about it, but I didn’t really know enough about it.”
Simon’s official diagnosis came in February 2023 after he and his partner Hannah had been trying for a baby.
He said they had been trying for several months but “nothing was happening and they couldn’t understand why”.
They therefore sought medical advice and Simon had a semen analysis test, which revealed he had no measurable sperm.
After a referral to a genealogist and then a cystic fibrosis clinic in December 2022, along with more tests, Simon said he later learned he had “abnormalities within (his) genes” and the “DNA markers for cystic fibrosis”.
He said: “When I was diagnosed, it came as a massive shock, especially knowing the kid that I went to school with and the fact that they didn’t live past 12 years old.
“So, for me to have lived my life up until that point, without any knowledge, it came as a shock.
“When my GP read my records and report, she said, ‘How has this been missed?’ She couldn’t quite believe that I’d been diagnosed at this point in my life.”
According to the UK Cystic Fibrosis Registry 2023 annual data report, the median age of death for those who died with CF in 2023 was 46, compared to 32 in 2018.
In addition, the median predicted survival for babies born today has increased to 64.1 years – and Simon said he feels “lucky that there have been such advancements in the treatments”.
Simon has had physio training to help him bring up the mucus, but he said he currently does not need to take any medication due to his fitness levels.
“Because I have stayed fit and healthy, the doctors basically said, ‘Look, whatever you’re doing, it’s working’, and I just need to continue,” he said.
“But the moment I stop exercising will probably be a time where they’ll need to start reassessing whether they’ll put me onto medication.
“That’s why I wanted to set myself a challenge and do the London Marathon.”
Simon with his daughter Ava on the day of the TCS London Marathon (Collect/PA Real Life)
With the help of IVF treatment, Simon said he and Hannah were “lucky” to conceive on the first attempt.
Their daughter Ava was born in December 2023 and Simon said she had the heel prick test which confirmed she does not have the CF gene.
“The heel prick test is an amazing thing, but it came in too late for me and that’s why I was never diagnosed,” Simon said.
Simon said becoming a father has changed his perspective and he wants to “enjoy as much of life as (he) can”.
With support from Cystic Fibrosis Trust, he hopes he can continue raising awareness and funds to improve the lives of those living with CF.
“Having Ava has given me a whole new outlook because I want to be there for as long as I can for her, I want to be around,” he said.
“My mum passed away from cancer when I was 11, so having Ava has made me even more determined to be there for as long as I can.
“My outlook with Ava is to seize every day with her and enjoy every moment, and just watch her grow and develop.”
He added: “With CF, it’s getting the word out there and making sure that people know they shouldn’t have to suffer alone.”
With more people living longer with CF, Cystic Fibrosis Trust is asking for help to fund vital research.
To find out more, visit: cysticfibrosis.org.uk.