The mother of a seven-year-old boy from Wheatley who was diagnosed with a heart condition at two-days-old hopes a new blood test could help other young people.
Henry was born with hypertrophic cardiomyopathy (HCM), a hereditary condition causing thickening of the heart muscle. It is a disease up to 1,000 children in the UK live with.
There is currently no cure and, although rare, it can cause sudden death in children and young people.
He was born via emergency caesarean at 37 weeks after doctors detected another condition, supraventricular tachycardia, which can cause the heart to suddenly beat much faster.
It was while being treated for this condition they realised he had HCM.
University College London (UCL) and Great Ormond Street Hospital researchers have now developed a new blood test that could help to identify children suffering from this potentially fatal condition.
Research illustrates how the new test, which measures seven proteins in the blood, could be used to effectively establish the presence of HCM.
The test can also identify four proteins which may indicate cases where there is a greater risk of sudden death.
Henry's life with HCM has been riddled with worry for his mum, Kayleigh, who said she had "nightmares" about her son taking part in his school's sports day as "we simply don’t know how far he is able to push himself”.
She said: "Henry has had to become aware of his condition and recognise when something doesn’t feel right and tell someone."
Henry has symptoms such as shortness of breath, chest pains, and palpitations, common with HCM.
Kayleigh added: “Understanding of HCM is improving but during Henry’s early days we had no idea what was going on.
"This research brings hope to other families and we hope that as Henry grows up his path will become steadier and easier."
Juan Pablo Kaski, professor of paediatric inherited cardiovascular medicine at the UCL Institute of Cardiovascular Science, said: "HCM is the commonest cause of sudden death in children and teenagers.
"The development of a simple blood test to both detect the disease and identify high-risk children with HCM, if confirmed and validated, could have a major impact on the care of children with this condition."
Dr Catriona Crombie, head of the rare disease translational challenge at LifeArc, a self-funded not-for-profit that invested in the research, added: "Diagnosing rare diseases can be challenging but having a diagnosis can make a huge difference for patients and their families.
"We hope that these ultimately help more children get a diagnosis sooner and have better treatments that could help save their lives."
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