Suzanne Sheppard is a 40-year-old Familial Hypercholesterolemia patient living in Wales. Having lost her father and grandfather to FH, she is familiar with its life-threatening consequences if not identified on time. Her 6-year-old son, Cameron, is waiting to be tested for FH at the age of 10. While the prospect of being diagnosed with FH is daunting, Suzanne remains optimistic, because her child could start treatment at a young age.
Suzanne and many other individuals across Wales, Northern Ireland and Scotland have benefitted from the implementation of cascade screening in their national health system. Cascade screening means that people have their blood tested, and if they are diagnosed with a genetic disorder, their immediate relatives are screened as well. This is a way for inherited diseases to be traced across generations. This process is crucial for individuals affected by FH, because the “invisible” condition often shows no obvious symptoms, but results in premature heart attacks or strokes.
For this reason physicians and nonprofit health organizations in England are lobbying for cascade screening to become an official practice in the UK-wide National Health Service (NHS). At the moment, England is the only country in the United Kingdom that does not utilize cascade screening. In the UK, there is one person who has a heart attack due to FH every day. Imagine the profound change in statistics that can be achieved if cascade screening were to become routine.
Steve Humphries, a professor of cardiovascular genetics at University College London calls this “preventative medicine”. This is not to say that the inheriting of FH genes is preventable, but the heart disease that they cause can be significantly reduced. This means a healthier, longer life. Suzanne concluded, “I’ve seen how the death of a loved one at such a young age devastates families and can rob them of a husband, father, mother – anyone. Medical science means that many of these deaths are totally avoidable as there’s no reason why anyone identified and put on statins at an early age can’t lead a long and healthy life, just like every other member of the general public. England should definitely follow Wales’s lead and do this.”