Simon Clarke, lost his older brother Mike, to a heart attack in 2015.<\/p>\n
Author: Matt MaddrenPublished 9 hours ago
Last updated 6 hours ago<\/p>\n
A Cheshire dad has shared his story after the sudden death of his brother led to the discovery of a hidden genetic condition \u2013 and a life-saving diagnosis for multiple family members.<\/p>\n
Simon Clarke, 31, lost his older brother Mike, to a heart attack in 2015. The 29 year old collapsed during a football match for Whitegate United FC in Northwich and, although stents were fitted, he passed away a week later.<\/p>\n
Blood tests revealed that Mike had high cholesterol \u2013 something Simon and his family had always struggled with but never fully understood.<\/p>\n
Simon, from Cheshire said:<\/p>\n
\u201cAfter my brother\u2019s death, we all went for tests, I was found to have high cholesterol too and received support at Leighton Hospital’s lipid clinic. Medication helped, but there were still unanswered questions \u2013 why was this affecting so many of us?\u201d<\/p>\n
That question eventually led to a turning point, when Simon\u2019s consultant referred him to a new pilot service screening for Familial Hypercholesterolaemia (FH) \u2013 a hereditary condition that causes extremely high cholesterol from birth and significantly increases the risk of early heart disease if left untreated.<\/p>\n
Simon underwent genetic testing through the service and a few months later received confirmation that he had FH.<\/p>\n
\u201cIt was hard to hear \u2013 no one wants a lifelong condition \u2013 but it wasn\u2019t really about me. It was about getting answers for my family,\u201d said Simon.<\/p>\n
\u201cThe genetic testing means I now know I have a condition that, even with diet and exercise, will always be present. It allows us to plan and make sure that when the children in our family reach the age where they can be tested, we take that step and don’t ignore it.\u201d<\/p>\n
Thanks to Simon\u2019s diagnosis, cascade testing began across the family.<\/p>\n
His nephew \u2013 the son of his late brother \u2013 was just four when he lost his father. Now 13, he has also tested positive for FH and has already started medication.<\/p>\n
\u201cHe\u2019s been on treatment since he was 11 \u2013 that\u2019s two years of risk reduction already. We can\u2019t change what happened to my brother, but we can try to stop it happening again.\u201d<\/p>\n
Simon\u2019s story is just one of many that highlight the impact of the FH genetic testing pilot launched in 2022 across Cheshire and Merseyside. Now, the service has been commissioned on a recurrent basis by NHS Cheshire and Merseyside, with support from Health Innovation North West Coast.<\/p>\n
Since the service was launched:<\/p>\n
More than 1,250 referrals have been received across Cheshire and Merseyside<\/p>\n
201 people have been diagnosed with FH via genetic test<\/p>\n
60 children and young people have been seen by the service, leading to 20 confirmed cases<\/p>\n
Almost 200 family members have self-referred following a relative\u2019s diagnosis<\/p>\n
Professor Rowan Pritchard Jones, NHS Cheshire and Merseyside\u2019s Medical Director, said:<\/p>\n
\u201cEarly identification of familial hypercholesterolaemia is vital. With the right genetic testing and follow-up, we can reduce the burden of premature heart disease and intervene before complications develop.<\/p>\n
\u201cThe early detection and treatment can bring an individual\u2019s life expectancy back to near normal and the cascade model helps entire families. It\u2019s a brilliant example of targeted, preventative healthcare.\u201d<\/p>\n