Sarah seeks more information about family heart condition

A Wymondham woman, whose family is seriously affected by an inherited heart condition, is to find out more about the disease at a special information day in Norwich on Saturday (November 22nd).

Sarah Jane, a counsellor, from The Lizard, three of her children, her brother and her father all have the heart muscle disease hypertrophic cardiomyopathy. She lost a baby to heart problems in 1989 and daughter Cicely survived a cardiac arrest last year when she was 23.

Sarah is among 100 people attending a cardiomyopathy information day at the Holiday Inn, Ipswich Road, Norwich, from 9.30am to 5pm. It is being held by the Cardiomyopathy Association, a charity that provides information and support to families affected by the disease

Hypertrophic cardiomyopathy causes the heart to thicken, leading to heart rhythm and pumping problems. It is a major cause of sudden death in young people, including in apparently fit sportsmen and women. But when diagnosed and appropriately treated, most affected people can live a long and full life.

Though Sarah, now 56, had problems exercising and walking uphill in her 40s and had heart checks on two separate occasions, the disease was not diagnosed in the family until Cicely, then 17, collapsed in the gym in 2007. She was put on betablockers and because of severe tiredness, struggled through her A levels and a law degree at Cardiff University.

As the disease runs in families, Sarah was given an MRI which showed she also had it. She has a biventricular (is this correct?) pacemaker to help regulate her heart rhythm and improve its pumping power. Tests on Sarah’s other children, including Cicely’s twin sister Bryony, at that time suggested they were unaffected.

Then in 2013, Cicely had a cardiac arrest at work. Sarah said: “Despite working for a big Newcastle based company that had three defibrillators in the building, there was no one there trained to use them. But she was saved by a colleague who had learnt resuscitation skills with the Scout movement and did CPR on her for 40 minutes.”

Cicely was taken to the Royal Newcastle Infirmary, where she was given state of the art treatment, said Sarah. Cicely now has an internal defibrillator (ICD) which monitors her heart rhythm and, if her heart develops a dangerous rhythm, will shock it back into a normal rhythm.

Briony, a recruitment consultant, and their brother Sebastian, a 20-year-old psychology student, have also been diagnosed with hypertrophic cardiomyopathy, as have Sarah’s 80-year-old dad Richard Horsfield, a former fighter pilot, and her 50-year-old brother Nicholas Horsfield, a company manager.

Cicely is awaiting open heart surgery to remove a small amount of heart muscle to improve blood flow out of her heart. This should help her feel less tired. Sebastian has been given an ICD and Bryony will have one shortly.

Sarah said:”Only around two percent of people survive a cardiac arrest out of hospital. Cicely was lucky because of her colleague, the fact the ambulance station was nearby and that she was given remarkable treatment at the hospital.”

Many gene mutations cause hypertrophic cardiomyopathy, and the mutation causing the disease in the Jane family has been found, meaning other family members can also be tested to see if they are at risk of developing the disease. Daughter Harriet, a 27-year-old finance company partner, shows no sign of having the disease but is to have genetic testing.

Sarah said: “Genetic testing can help identify family members at risk and ensure they get appropriate care. Cardiomyopathy is often unpredictable but it has inspired us to live a full life and appreciate the gift of life.

“We have got important advice from the Cardiomyopathy Association and are often on the charity’s website. We have given information to our doctors so they understand the importance of taking symptoms seriously. Our medical care has helped reduce our fears and information from the Cardiomyopathy Association has dispelled some of the horrors we have found on the internet.

“I am attending the cardiomyopathy information day in Norwich to learn more about the disease, new developments in care and latest research. But I also want to know more about the surgery Cicely is to have so I can reassure her.”

The main speaker at the information day is Professor Perry Elliott from the inherited heart disease team at the Heart Hospital in London. He will be talking about the main types of cardiomyopathy, which also include dilated and arrhythmogenic right ventricular cardiomyopathy (ARVC), their diagnosis, treatment and new research. Other speakers include consultant cardiologists Dr Ian Williams and Dr Sunil Nair from the Norfolk and Norwich Hospital who will be talking about treating heart rhythm problems and the development of cardiomyopathy services in the area. The Cardiomyopathy Association’s chief executive Robert Hall will talk about the services the charity provides to affected families.

Cardiomyopathy is not a rare disease. It is thought that at least 1 in 500 people suffer from hypertrophic cardiomyopathy alone. Similar numbers of people have dilated cardiomyopathy and it is thought that around 1 in 10,000 people have ARVC. For more information about cardiomyopathy, see the Cardiomyopathy Association’s website www.cardiomyopathy.org or call free phone 0800 0181 024.

Note to editors: For more information, please contact Sarah Dennis, Information Manager, Cardiomyopathy Association, 01494 791224, mobile 07806 512322, or email sarah.dennis@cardiomyopathy.org