Close to my HeartMarch 14, 2021 10:05 am
Emma Hallam, Founder of Alex’s Wish and Mum to Alex, has spoken movingly about how she has discovered that as a manifesting carrier of Duchenne Muscular Dystrophy she has an increased risk of developing cardiac and skeletal muscle weaknesses and dysfunction.
Says Emma, “Knowing now that I’m a manifesting carrier and, as a result, Alex has Duchenne is very hard. When I found out that it can also affect my heart I’ll be the first to admit that I was very worried. As a female carrier of the Duchenne gene its important I get my heart checked regularly. The test looks at the build-up of scar tissue, known as cardiac fibrosis, which can affect the healthy functioning of the heart. To date I’m relieved to say that all is good but will be keeping a close eye on things.
“When Alex’s Wish were invited by Duchenne UK to co-fund the initial Carrier Heart Study it, of course, really resonated with me. This study is being run by Dr Lee Borthwick and Dr John Bourke at Newcastle University, and the aim is to find quicker ways of diagnosing cardiac complications in mothers who carry the Duchenne gene. Putting it bluntly, the sooner we know if there’s a problem, the sooner we can be treated and that’s imperative. The additional burden to female carriers knowing that they may experience heart complications during their lifetime is horrible. If it isn’t enough having to worry about their child who is faced with a life limiting disease and all the complications that surrounds that, they also have to worry about their own heart health. The absolute last thing any family living with Duchenne needs is mum being unwell so I was delighted when our Trustees supported our decision to invest £15,000 in this study.”
Alex’s Wish were able to support the study despite the affects COVID-19 has had on the charity. Adds Emma, “COVID-19 has not been kind to us it’s fair to say, but then it hasn’t been good to many businesses or charities. We were able to make this investment because of the wonderful and dedicated supporters who’ve still donated to our cause throughout the Pandemic. Their support has, quite literally, made all the difference especially in this case to mums like myself, so we would like to say an enormous thank you to them.”
Emma strongly believes that for any mum in her situation to be a great carer, a great Mum and advocate for their child faced with a child with a disability like Duchenne, they first must look after themselves. Says Emma, “Knowing that further work is now taking place to look into speeding up the diagnosis of cardiac fibrosis is incredibly reassuring and, who knows, could even help save my own life one day.” Emma is currently seen at Glenfield Hospital under the Heart Specialist Unit and has annual echo’s and is now awaiting an MRI which has been delayed due to the current COVID-19 pandemic. “I think what’s really exciting about this important preliminary set of studies is that it could lead onto a clinical trial in the future and that’s where real progress is always made,” concludes Emma.
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