A grandmother has told the media how three generations of her family are affected by cardiomyopathy to help highlight the CMAâ€™s cardiomyopathy information day in Swansea on Saturday.
CMA chief executive Robert Hall said: "We are most grateful to Carole and her family for agreeing to tell their story to raise awareness of cardiomyopathy and our information day."
Carole, from Carmarthen, developed a heart problem in her 30s in the late 1970s, but doctors were unaware that she had the inherited disease.
She was put on drug treatments but had no idea what she had and that her children were also at risk of developing it in their teens or early 20s.
Her diagnosis only came 14 years later in 1994 after her son Richard collapsed and died aged 19 playing squash.
When the post-mortem showed he had died from arrhythmogenic right ventricular cardiomyopathy, the Docherty family began to get the care they needed. Close family members had heart checks. Carole found out for the first time what her heart problem was and her other son Mark Peares and her twin sister Lesley were also diagnosed with it.
In this type of cardiomyopathy, heart cells come apart and die causing fatty deposits and scar tissue. These can interrupt the heartâ€™s electricity, causing heart rhythm problems.
The family are now all seen regularly by cardiologists, are on drug treatments and have undergone genetic testing, which has found the gene mutation causing the disease in their family.
Genetic testing on Markâ€™s son Ellis, now six, shows he has inherited the same gene mutation. It does not mean he will develop the disease, but doctors know they will need to check him regularly for it. Results are awaited on his little sister Abigail. Ellis, who lives with his parents in Llanedeyrn, Cardiff and attends Ysgol-Y-Berllan School is being encouraged to enjoy non-sporting activities as it is thought playing a lot of sport can make the disease worse.
On Saturday Carole will be attending the cardiomyopathy information day to find out more about the disease, developments in care and latest research.
Carole and Markâ€™s wife Michelle will be among more than 50 people attending the information day from 9.30am to 5pm at the Mercure Hotel, Phoenix Way, Swansea.
Among the speakers will be top cardiomyopathy expert Professor Perry Elliott from the Heart Hospital in London. He will be talking about all types of cardiomyopathy, which also include dilated and hypertrophic cardiomyopathy. The conditions are the biggest medical cause of sudden death in the under 35s, but when diagnosed and appropriately treated most affected people can go on to live a long and full life.
Other medical speakers include Dr Mark Anderson, a consultant cardiologist from the Morriston Hospital talking about local cardiomyopathy services; arrhythmia nurse specialist Wendy Churchouse on living with cardiomyopathy; and Professor Dhavendra Kumar from the University Hospital of Wales in Cardiff on Walesâ€™s genetics services and multi-disciplinary care.
Robert will be talking about the services the charity offers to affected families.
For more information about the meeting or to register to attend, call the Cardiomyopathy Association on free phone 0800 0181 024 or e-mail firstname.lastname@example.org
â™¥ Pictured above are Carole (far left) with her son Mark, his wife Michelle and Ellis
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