Being carrier for son’s disease was hard to accept, but now I want all mums with it to get themselves checked...
EMMA URGES WOMEN WHO HAVE DUCHENNE TO GET HEART TESTS
THE mother of a 14-year-old with a severe muscle-wasting disease has opened up about discovering she is a carrier for the illness - while looking to raise awareness in others about the potential dangers of the condition.
Emma Hallam’s son Alex was diagnosed with Duchenne Muscular Dystrophy at the age of four.
Soon after that Emma, from Queniborough, was told that she could be a carrier of the disease but as a female, it would be unlikely to affect her.
About 100 boys are born in the UK with Duchenne each year, and its severity means children who have it are unlikely to live beyond their 20s - but it rarely affects female carriers because they make enough of the dystrophin protein that is associated with the illness.
“I suspected I would be a carrier as soon as he was diagnosed - I don’t why but I just felt like I knew,” she said.
A gene screening was needed to confirm that Emma was indeed a Duchenne carrier - something that she found hard to take.
“Knowing now that I’m a manifesting carrier and as a result, Alex has Duchenne is very hard,” Emma said.
She added: “A lot of mums in the Duchenne community that I’ve spoken to have struggled with feeling responsible for passing it on, but they couldn’t have known.”
At the time of the gene screening, Emma and husband Andy were hoping to have another child, but the results meant any future children conceived naturally could also be affected by the disease.
“At the time it was heartbreaking I might not be able to have other children,” she said, so the couple decided to go down the route of IVF to ensure that their future child showed no signs of Duchenne.
“It was a very stressful time, going through that when there was already a lot going on,” said Emma.
“I was constantly at appointments and it was like a rollercoaster ride,” she said.
It was all made worthwhile when the couple had a daughter, Isla.
An added complication was that female carriers have an increased risk of heart problems, so
Emma had to undergo an initial heart evaluation and was given the allclear.
“When I found out that it can also affect my heart, I’ll be the first to admit I was very worried,” she said. “As soon as I found out I could still be affected, I had myself referred to Glenfield Hospital.” However, it wasn’t until recently Emma was told, following new research, that she needs a regular check-up. Now Emma wants to ensure that other carriers, at increased risk of developing heart problems and skeletal muscular dysfunction, also get themselves regularly checked. She said: “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 all is good - but I will be keeping a close eye on things.” Alex’s Wish, a charity set up by Emma and Andy to raise awareness of the disease, was recently invited to co-fund the Carrier Heart Study run by Duchenne UK. “I jumped at the opportunity to fund it because it’s so important that we as carriers and mums look after ourselves too,” Emma said. “When you’re caring for someone you often put yourself on the backburner, but we need to be able to look after our children and that means looking after ourselves.” Emma said the charity will continue to keep raising awareness as the “clock continues to tick” for children with Duchenne.
To find out more about Alex’s Wish and Duchenne, go to: