HEART UK has been at the forefront campaigning to help identify and support people with FH. More than 90% of people with a faulty gene causing FH are unaware they have it. This is a deadly condition that causes very high cholesterol from birth which drastically increases the risk of having a heart attack or stroke at an early age.

We know that the younger someone knows they have FH the better because treatment is usually straightforward and lifesaving. As a charity, we’ve had enormous success campaigning for people with FH to get access to treatments and services they may not otherwise have received. We also ensured that FH is in the Government’s plans for the NHS, which has set a target to increase the number of people with FH identified from 7% to 25% by 2024.

Our medical experts have produced standards of treatment and care for FH that are world class and are followed by health systems around the world and we have contributed significantly to a Global Call to Action with international groups and charities such as ours.

I’m so proud of our achievements and grateful to everyone in the charity and of those we work and partner with who have helped us make these major steps forward happen.

But there is so much more to be done. One major frustration for me is that, despite people dying unnecessarily, that despite the ambitious identification target, we are still not screening children for FH in this country. A clinical trial being run in some parts of the UK as recently as 2016, saw 10,095 children tested for high cholesterol. Many were found to have an FH gene. From this simple test, not only could those children get treatment - and at an early age this could mean eating healthily and keeping active – but their parents, even uncles, aunties and cousins could then also be tested. Once identified, they would then also have received treatment and support and be able to live to see their children grow up.

This would not have happened in many cases had these children not been tested. It has not only saved them from an early death but also more people in their wider family. It makes absolutely no sense to me to not extend this trial to ensure universal testing becomes common practice. In these current times, the importance of keeping families together has never been so vital.

Once the trial had proven to be successful, we pushed for universal childhood screening to be routine and applied to the UK National Screening Committee at Public Health England. The Committee agreed to review it but then responded with lots of questions and asking for more evidence. The Committee met again recently after we had gathered extensive evidence from around the world, including from experts in the UK, proving why screening would save lives, save the NHS money and end the heartache of broken families. Its decision to not introduce screening is a huge disservice to people with FH, their families and all those going about their daily lives not knowing they are a ticking timebomb.

Being told that the committee had once again rejected the idea, I cannot tell you how upset and disappointed I was. It makes me very sad to think that so many children will not receive a diagnosis and the impact this will have on them and future generations. There is a quick and easy way to identify these children. Interventions are available which can help them lead a full and healthy life. It makes no sense to me.

The NHS target of achieving 25% identified by 2024 will only happen if child-parent screening is introduced on top of the existing adult FH cascade services.  

I am determined that children with FH must not be ignored. I am determined that FH shouldn’t be needlessly taking lives and I am determined that together we will carry on our campaign. HEART UK will not give up.