Margriet

MD is the most common muscle disease, and yet it often goes unrecognised. That’s exactly what happened to Margriet, 38, married to Richard. In 2012 she discovered that she herself, and all four of their children, had Myotonic Dystrophy.

In 2012 I was diagnosed with Myotonic Dystrophy, and a month later we heard that all four of our children had MD too. The heritability of MD is already high, at a 50% chance, but I had the bad luck of passing it on to my children 100% of the time.

What prompted me to go to the doctor was my youngest daughter Silke’s complaints. She always woke up tired, was floppy and listless. Walking was a real struggle for her. She would fall after a few steps and couldn’t catch herself. We ended up seeing all kinds of specialists and kept being sent away without answers, until the paediatric neurologist, after several consultations, had a suspicion of what it might be.

I had myself tested first, because I didn’t want the children to have blood drawn if it wasn’t necessary. In January 2012 I was diagnosed with Myotonic Dystrophy. A month later we heard that all four of my children had it too. My father, brother and niece also have MD.

In the children, the symptoms started earlier than they did in me, and their life expectancy is shorter. I often feel so powerless, and I can’t bear to think that my husband Richard might be the only one left. On the other hand, it also puts things into perspective. As a family, we’re mainly focused on managing day to day and being happy with what we have right now. And we don’t plan too far ahead.

All my children are in special education. They have a rest room there, so they can sleep at school. And a large part of their treatment also runs through the school (physiotherapy, speech therapy, occupational therapy). That saves me a lot of time on care appointments. My children are happy to be at this school, because here they aren’t bullied and they aren’t different from the rest. Everyone has something!

Since so few people know what MD is, it remains a fight for every provision or form of support. Because you can barely see anything from the outside, with me or with my children, I run into a lot of incomprehension. In the past, people would sometimes tell me not to make such a fuss, but I was simply exhausted because of this muscle disease.

For now I still feel strong enough, and I’m happy to help raise funds — both for the Prinses Beatrix Spierfonds and for the MD Europe foundation. I’ll put my energy into this for as long as I can, so that everyone knows what MD is, recognises the symptoms, and has more understanding for patients. And so that a medicine is found to fight MD and our life expectancy becomes longer. So that this becomes the last generation with MD.