Living with familial hypercholesterolaemia
Sarah Brealey meets a family whose lives have been changed by the diagnosis of a genetic condition, and speaks to the nurses helping to support them and others like them.
“You can accept something like this for yourself, but when it is your child it is much harder,” says Donna Davies.
Donna, 34, from Ceredigion, Wales, has familial hypercholesterolaemia (FH), which causes very high cholesterol levels and increases the risk of a heart attack at a young age. Donna will never forget the day she found out that her son Rhys, 11, also has the condition.
The family went to a meeting with their specialist nurse, Delyth Townsend. Donna says: “She said ‘Daniel’ – he’s my eldest – ‘doesn’t have it’. Then she said ‘But Rhys does’. I had a lump in my throat; I missed a couple of heartbeats. I looked over at him and it was breaking his heart. He didn’t understand; he thought it meant he couldn’t play football. He came over and I hugged him and then I burst into tears, too.”
Delyth is one of three nurses who were funded by the BHF to help deliver the FH service in Wales. The BHF and the Welsh Assembly jointly funded the creation of the service, which provides targeted testing of individuals and the immediate family members of those who test positive (cascade testing). A new FH service is about to be created in England and Scotland, thanks to BHF funding.
I wouldn’t have missed the opportunity to get my family the protection they need early on
Rob Gingell, the BHF FH specialist nurse covering North Wales, explains: “My role is focused on finding ‘index cases’ – a person who is eligible for the initial genetic test for FH. When we offer testing, we don’t know whether we are going to find a genetic mutation [an alteration in a gene] or not.
“One of the challenges is to offer it to the right people. If we offered it to everyone with slightly raised cholesterol we would be worrying lots of people unnecessarily as well as spending a lot of money, but if we were too stringent then we might miss people who do have FH. Thankfully, we have research-based guidelines that help us.”
Rob and his colleagues receive referrals from cardiology departments, GPs, lipid specialists and specialist nurses, as well as patients who contact the service directly. Once a case is identified, close family members are offered genetic testing; some nurses work with a genetic counsellor to do this.
A family problem
Since Donna was diagnosed three years ago, 24 members of her family have been tested. Thirteen have been found to carry the gene for FH and are now being treated with statins.
Delyth, the nurse who covers the south-west of Wales, says: “Donna had uncles who died of heart attacks, and her father had a heart attack at 46. Those could probably have been prevented if there had been FH testing back then – it shows you the importance of this service.”
Rob says: “I have seen families where the dad has died in his 30s and the mum is left with young children worrying if they will be affected. Clearly those families need more support.”
For Donna, the thought of having passed FH on to her children was difficult. “You think to yourself, ‘This is my fault’,” she says. “I think my dad felt a bit like that, too. But Delyth explained it hasn’t started with us, and that made me feel better.
“There are still times that are difficult. Sometimes I break down when I think about all the things that could happen. But I know the medication is helping to protect Rhys – this is the safest thing and that is some consolation.”
Donna’s family has adjusted to their situation, with Delyth’s support. Donna says: “Delyth has been a total rock. She is there if I want to talk about anything.”
People who are found to have FH are given information about the condition and how they can change their lifestyle. Delyth and Rob give out the BHF booklet Inherited heart conditions: familial hypercholesterolaemia, and direct people to our website and Heart Matters.
Our BHF nurse has been a total rock. She is there if I want to talk about anything
Donna and her family have made dietary changes to reduce their risk of coronary heart disease, cutting down on fatty foods, and Donna has also lost weight.
She says: “My husband, Barry, has been a tremendous support. He has made lifestyle changes with us, which has made things easier.”
Because cholesterol levels are so high when someone has FH, they need treatment with statins as well as lifestyle changes. Statins can be started from the age of 10, so Rhys is taking them. Donna says: “We tried a change of diet first, but it didn’t have the effect we hoped. It was a hard decision, but we decided it is the best thing.”
Rhys is still playing football and has adjusted to his condition. Donna says: “It was quite hard for him to start with, but he seems to have come round quite quickly – quicker than me really.”
Donna has a third son, Rhun, who is seven, and she is planning for him to be tested when he is older.
She says: “I think it is better to know. I wouldn’t have missed the opportunity to get my family the protection they need early on.”
Rob and Delyth are in no doubt about the benefits that having the FH service in Wales has brought. Rob says: “The BHF has made all the difference. There was no service here in north Wales before the BHF funding.”
Delyth says: “FH is something we can diagnose and treat relatively easily.
“I have seen people whose relatives have had a heart attack with no warning and not survive, and that is devastating. That is my motivation – we can stop that happening.”
Read our frequently asked questions on FH