Corrie plot was based on agony over our own girl
SOME of the signs of muscular dystrophy were there from my husband Matthew’s late 20s but he always had another reason to explain them. Maybe he was burying his head in the sand or maybe, like most of us, he thought “it’ll never happen to me”.
One sign is saliva gathering, but Matthew put that down to having wisdom teeth removed. He also had weakness in his hands that he put down to frostbite.
But there were more important things in our lives and, in time, we went on to have a baby, Amelie. Nappies, cuddles and sleepless nights took over.
Our little girl was nearly two by 2011 when, one day, Matthew realised he couldn’t make a fist. Worried, I told him to go to the doctors.
The GP thought it was neurological or nerve damage and referred Matthew to the hospital.
The neurologist knew straight away what it was. He found Matthew was unable to hold, grip and make fists.
Blood tests confirmed he had myotonic dystrophy. We learned it was genetic and incurable and Matthew’s siblings and parents were brought in for tests.
They showed Matthew’s brother Howard was also affected and both received the mutated gene from their dad. We learned the mutation got worse through the generations, which explained why Matthew’s dad only had minor symptoms whereas Matthew and Howard had more severe effects. My thoughts went to our girl. We were referred to a genetic counsellor, who would explain our options for testing Amelie, as well as family planning for the future. We were adamant we would get Amelie tested, to know what we were dealing with. The talk with the counsellor lasted over two hours. She was kind, gentle, rigorous. She told us: “Once you have the test result, you can’t give it back.” We then realised we DIDN’T want to know if Amelie was going to develop symptoms later because that’s all we would be able to think about. So we decided not to get her tested. She’s reviewed at Great Ormond Street Hospital and if she starts showing signs of the condition then we will probably make a different decision. We al so talked through having more children. The counsellor explained we could have prenatal tests to try to find out if the foetus is affected.
After coming to terms with Matthew’s diagnosis, we decided to try for more children. But sadly, prenatal testing revealed bad news and we have had two terminated pregnancies.
The procedure was not difficult, the two-to-three week wait was hardest. It’s horrible waiting for the phone to ring. It’s a dark time.
Foetal testing is such a difficult decision. I believe everyone has to make the decision that’s right for them but I couldn’t knowingly bring a poorly child into the world. There’s no cure and there’s no treatment. It’s a condition caused by a genetic mutation affecting 7,000 people in the UK. On average sufferers will pass on the condition to half of their children. Both sexes are equally affected but women are more likely to have a severely affected child. People with myotonic dystrophy experience muscle weakness and wasting, usually in the face, jaw and neck, which tends to gets worse over time.
Associated problems include cataracts, disturbance of heart rhythm, hormonal problems and, in children, learning difficulties. We’re not sure if we’ll try again. We only heard about Muscular Dystrophy UK after Matthew’s diagnosis. But we were really glad to find a charity that could actually help. Now we are involved as peer support volunteers, giving advice to other people. Right now I’m helping a girl come to terms with her brother’s diagnosis.
When I heard Coronation Street was doing a storyline about myotonic dystrophy I was pleased because whenever we talk about Matthew’s condition with other people they have a blank face.
I spoke to show researchers back in May and shared our story. When I watched the first episode last Monday night I thought it was really well done.
I was overwhelmed at how emotional the scenes were. It brings it all back.
I’m really hoping there’s going to be a lot of money raised through the coverage – research for the future is my biggest issue with Matthew’s condition developing and uncertainty surrounding Amelie.
I can’t get my head around the possibility of her being poorly in the future because she’s so well at the moment. We’ll have to deal with that when and if it happens.
Apart from a cure, my hope for the future is that there will be more available counselling for couples facing a diagnosis and exploring family planning. It’s a very stressful, emotional time and the current support just doesn’t last long enough.