My heart-stopping experiences

Hi, I’m Tina.. I live in Greenford, a suburb in North West London, England. Recently, an article about me was published in This is Local London, by Benedict Moore-Bridger.
Twelve years ago, I had a seizure and stopped breathing. My husband, Peter, who is a firefighter, managed to rescuscitate me that day and again in 2002, when I had a suspected cardiac arrest while I was asleep.

After this second event, doctors decided to give me an implantable cardiacdefibrillator (ICD), paid for by the National Health Service (NHS). We have national health care in England. The defibrillator saved my life. I have had three more cardiac arrests and each time it has done its job.

I’m sharing my story with Geneforum because I want to help other families with the condition and help others with potentially genetic conditions learn that genetic testing can provide answers and help people who are unaware that they carry a problem gene. In 1996, I joined the Cardiomyopathy Association's network of people who offer support on the telephone. My family and I also began raising money for the charity to help it develop its services. I am very passionate about wanting to help the Cardiomyopathy Association in its work. The charity's aims of raising awareness of the condition with the general public and the medical profession are vital.

By now, you may be wondering what my story has to do with genetics. At first, doctors thought I might have epilepsy. Then, they identified “dilated cardiomyopathy”. I have an an enlarged heart that pumps less effectively. First, they treated it with drugs, and then gave me the defibrillator.

While under the care of the Heart Hospital in London, I was offered genetic testing as part of a research project. The test identified the gene mutation in my family and revealed I had a different type of cardiomyopathy—arrhythmogenic right ventricular cardiomyopathy (ARVC). In this condition heart cells become damaged and are replaced by fat and scar tissue.
My parents, siblings, children, aunts, nephews, nieces and cousins have all been tested and several of them have been found to carry the gene. They are now receiving appropriate care. Unfortunately, genetic testing is not currently available on the NHS and some affected families are not getting the regular heart screening needed.

I want everyone to know that cardiomyopathy is not rare—around one in 500 people are thought to have it. Also, evaluation by a cardiologist is needed for a definite diagnosis of cardiomyopathy and its type, to assess the outlook for the patient, and to treat complications. With more awareness, more genetic testing and heart screening for affected families, many lives can be saved.

For more information about cardiomyopathy, go to www.cardiomyopathy.org and for more information on specific types of cardiomyopathy check out http://www.cardiomyopathy.org/html/which_card.htm.