With so many deaths in the family you wondered who’d be next

Mar 13 2008 by Greg Tindle, South Wales Echo

ROSEMARY Ives was just eight when her mother died suddenly from a heart attack.

Her mother was just 41 years old – and further tragedies were to haunt the large family.

Her mum’s older brother had previously died from a heart condition when in his 30s and over the next few years Rosemary’s aunt, uncle and her cousin all died prematurely with heart problems.

Just one aunt and uncle were left alive and they decided these deaths were too much of a coincidence and set out to discover if there was a link.

Eventually after many years they found a doctor who was prepared to look into it. In 1966 his tests confirmed they both had very high levels of cholesterol in their blood. He advised all family members should be checked to discover any who were in possible danger.

Among those was Rosemary who was then 21 years old and a similar picture emerged – she also had very high levels of cholesterol. She said “In some ways it was a relief to know what had been the cause of so many deaths as up to that point it had been frightening – you wondered who was going to be next.

“I’d never had any health problems up to that point and I was put on drugs to cope with the condition with the doctor advising me to eat healthily, take exercise, not to smoke and generally look after myself – something that sounds very familiar today.”

Confirmation that this high level of cholesterol was being passed on within the family came just a few weeks later when Rosemary’s two daughters, Jenny and Jackie, were both found to be affected. They were put on daily medication with regular hospital check-ups. Jenny is now 39 and Jackie 35.

Rosemary’s experience has highlighted the danger to hundreds of people who are dying prematurely from heart attacks and not been tested for this potential killer condition.

Experts estimate 6,000 patients in Wales have Familial Hypercholesterolaemia – FH – but 4,800 of these are undiagnosed and untreated.

Calls have now been made for more effective management and treatment with genetic checks on families already affected. Yet the majority of people in Wales with this potentially deadly condition have no idea they have it.

Rosemary, 63, from Ystradowen, has remained in good health since her diagnosis and is now waiting until her grand-daughter Alexandra, aged two and a half, reaches her 10th birthday before tests are carried out.

“The screening service has also ensured my two daughters have been diagnosed and are now being appropriately managed.

“This condition can go undiagnosed as families don’t realise it may be caused by a specific genetic condition. Thankful, in my family it was picked up.”

Campaigners are looking for the Welsh Assembly Government to fund screening which can be done by nurses right across South Wales after a successful pilot of the scheme in Cardiff and Bridgend.

Buddug Williams of the Genetic Interest Group said: “We want the Government to roll out the screening programme so that people in South Wales can get detected, treated and supported. For people who don’t know they have inherited high cholesterol this is a life or death matter.”