Michelle Goldthrite, 47 lives with her husband Joel and their two daughters Sadie, 13, and Abigail, 11 in West Glamorgan. Michelle, Sadie, and Abigail all have facioscapulohumeral muscular dystrophy (FSHD). Michelle talks about having two daughters with the same condition as her, and calls for more support services in Wales:
My husband and I talked about having children, but because there was a 50% chance of passing the condition on, we decided against it. However, I fell pregnant and had my daughter, Sadie in 2002. Sadie developed normally – she walked at nine months and could even count to 10 when she was 13 months old. We kept asking about getting her tested for FSHD but were told we had to wait until the doctor could see symptoms.
“After I had Sadie, I got sterilised as I couldn’t face the thought of passing my condition on again. After I was sterilised, I started feeling really poorly, and I found out that I was four months pregnant with Abi. As Sadie was growing up, I was constantly looking for signs and symptoms that she was developing the condition. When she was nine, the GP could see that her eyes were weakening, and she couldn’t keep her eyes tightly shut.
Sadie was on a residential trip when we found out she had FSHD. We didn’t know whether to tell her or not . She cried when we told her, but since that first set of tears, she’s been really strong. In some senses, it was a relief when she was diagnosed, as we didn’t have to keep second guessing things when she was feeling unwell.
“Sadie had always enjoyed gymnastics, but she kept falling and she broke her foot. She’s had to give up gymnastics, but still cartwheels around the house when she can. Her knees are weakening and she can’t walk to and from school anymore, or take part in PE lessons.
“We’ve always been open with our daughters about FSHD, and Sadie’s friends know all about the impact it has on her, but no one makes a big deal of it. To look at her you wouldn’t know that anything was wrong, but she has a slight curve at the bottom of her spine, her arms ache all the time, and the muscles in her face are becoming more affected. Her arms are constantly aching – if she is brushing her hair, she will rest her arm on the table, and it hurts to pick things up and reach out to put them on a table or a shelf.
“My younger daughter, Abi used to say she had muscular dystrophy and that she would need a wheelchair a long time before she received her diagnosis. It was heart-breaking to hear. Abi was always very slim – she was just like I was as a child. I could see the symptoms in her way before her diagnosis. Her shoulder blades were sticking out and she had aching arms.
“A year and a half after Sadie’s diagnosis, we found out Abi has FSHD. She’s very private about her feelings and talking about her condition. Abi’s condition is deteriorating much quicker than Sadie’s, which is really hard for the whole family. Sadie and Abi both enjoy school. Sadie’s favourite subject is Religious Education, and she wants to be a teacher when she is older. Abi loves art and being creative. Ever since she was really young, she has wanted to build or fly helicopters. She loves anything with an engine!
“The girls talk to each other about their condition, how they are feeling, and the things they want to talk about at their next appointment with the specialist, but we have no Care Advisor, no psychological support. As the girls get older, there will be things that they don’t want to talk to us about, like relationships and body image issues. They need to be able to talk about the emotional impact of their condition, as well as the physical effects. Abi panics a lot when she gets ill, and will ask me if she is going to die. It is hard for me, as I feel like I’m responsible for her feeling this way.
“We have spoken to the girls about having children of their own, and that they should think carefully about whether they want to have their own genetic children. Obviously, it is their choice, but they need to know how they might feel if they pass the condition on. There is a lot of support for families when the condition is ‘new’, but if it runs through a family, it can feel like you are left alone as people assume you can cope with it. But we can’t. We don’t know all the answers to the questions the girls have.”
The charity is here to help. We have a number of online factsheets with information about psychological and social issues and support.