Man Discovers Cystic Fibrosis Diagnosis at 41, Aims to Raise Awareness

Simon Wade, a 44-year-old sales consultant from Devon, was diagnosed with cystic fibrosis (CF) in February 2023, a revelation that drastically altered his understanding of his health. Despite experiencing breathing difficulties since childhood, Wade was led to believe he had asthma until fertility struggles prompted further medical testing, revealing he carried the genetic markers for this life-limiting condition.

Cystic fibrosis, a genetic disorder affecting more than 11,000 people in the UK, results in a build-up of thick, sticky mucus in various organs, particularly the lungs and digestive system. This condition, typically diagnosed shortly after birth through the heel prick test, was not available at the time of Wade’s birth in 1981. He shared his experience, stating, “If my partner and I hadn’t been trying for a baby, I would still be none the wiser.”

Wade reflected on his life prior to the diagnosis, noting that he had always been active and healthy. Doctors had consistently indicated he suffered from asthma, yet he now recognizes that many of his symptoms were misattributed. He described frequent mucus production and difficulty breathing, all of which he believed were part of his asthma diagnosis.

In December 2022, after Wade and his partner Hannah faced challenges conceiving, they sought medical assistance. A semen analysis revealed a lack of measurable sperm, leading to a referral to a cystic fibrosis clinic where genetic tests confirmed the diagnosis. “When my GP read my records and report, she said, ‘How has this been missed?’” he recalled, emphasizing the shock of being diagnosed with a condition that had claimed the life of a schoolmate at a young age.

Embracing Life and Raising Awareness

Following his diagnosis, Wade has focused on maintaining his fitness as a primary means of managing his health. He currently does not require medication, with doctors advising that his active lifestyle is beneficial. “The moment I stop exercising will probably be a time where they’ll need to start reassessing whether they’ll put me onto medication,” Wade stated. To further this commitment to health, he participated in the TCS London Marathon in April 2023, successfully raising nearly £3,000 for the Cystic Fibrosis Trust.

With the support of fertility treatment, Wade and Hannah welcomed their daughter Ava in December 2023. He expressed gratitude that Ava tested negative for the cystic fibrosis gene through the heel prick test. “The heel prick test is an amazing thing, but it came in too late for me,” he noted, highlighting the importance of awareness and early diagnosis.

Wade’s journey has inspired him to advocate for greater awareness of cystic fibrosis. He is determined to ensure others do not experience the same misdiagnosis he faced. “With CF, it’s about getting the word out there and making sure that people know they shouldn’t have to suffer alone,” he said.

As advancements in treatment continue to improve the outlook for those diagnosed with CF, the Cystic Fibrosis Trust is actively seeking support for ongoing research. According to the UK Cystic Fibrosis Registry 2023 annual data report, the median predicted survival for babies born today with cystic fibrosis has increased to 64.1 years, a significant improvement from previous decades.

Wade’s new role as a father has reshaped his perspective on life. He now emphasizes the importance of enjoying each day and cherishing moments with Ava. “My outlook with Ava is to seize every day with her and enjoy every moment,” he said. With his story, Wade hopes to inspire others to seek answers about their health, advocate for early diagnosis, and support initiatives to enhance the lives of those living with cystic fibrosis.

For more information on cystic fibrosis and how to contribute to research efforts, visit cysticfibrosis.org.uk.