Michelle Cook lives in Tonbridge, Kent, with her husband, Jonathan, and two children, Jake, 14, and Cerys, 12. When Cerys was a baby, she was diagnosed with congenital myotonic dystrophy. Little did Michelle know, she was also living with the condition, and there was a history of myotonic dystrophy running through the family. Michelle shares her story:
I had never heard of myotonic dystrophy until my daughter Cerys was born in 2003. As soon as she was born, I noticed she was ‘floppy’, and didn’t have the strength we had seen in her older brother, Jake.
A pediatrician examined Cerys – she had been trained in the neuromuscular department at Guy’s Hospital, and suspected myotonic dystrophy straight away. Cerys was born in July 2003, and was diagnosed with congenital myotonic dystrophy in September 2003. We were devastated when we received the news.Before long, doctors started testing other members of the family for myotonic dystrophy, and that was when I was found out that I had it too. I spoke to my sister, and parents, and encouraged them to get tested. My father tested positive, as did my aunt, and two of my cousins.
Some family members have chosen not to be tested. It has since come to light that my great uncle had the same condition, but in those days, little was known about muscle-wasting conditions, so he was never formally diagnosed. Since receiving Cerys’ diagnosis, our lives have completely changed. The hospital appointments seem constant, we have to think about so many different things when we are booking a holiday or an activity.
Cerys has learning and behavioral difficulties as a result of her condition. She presents herself as a much younger child, playing with toys and watching TV programmes that are more for younger children. She has a lovely nature and always wants to help other people. Cerys finds walking tough. Her balance is poor due to her stiff muscles.
She uses a wheelchair to travel longer distances, but two years ago, she took on a mile-long walking challenge for Muscular Dystrophy UK, helping to raise nearly £2,000 towards the charity’s work. We are incredibly proud of her for doing this, it was a huge achievement.We don’t know what the future holds for Cerys, and as a parent this can feel very frightening.
Myotonic dystrophy doesn’t affect me as much as it does Cerys. I get fatigued, and experience some stiffness particularly in the muscles in my fingers. There are little things you’d normally take for granted, like opening a jam jar, that I am unable to do.To parents who have a child who has recently been diagnosed with a muscle-wasting condition, I would say to seek out all the help that is available. There will be ups and downs, and rough patches, but having the right support network in place, makes all the difference.
The charity is here to help. The friendly care and support staff in our London office are here to give you free information and emotional support. Our phones are staffed 8.30am to 6pm Monday to Friday. We look forward to hearing from you.
To find out more about congenital myotonic dystrophy, read our factsheet