Kirsten

I kept our story to myself for years. It made me feel vulnerable, and it was too personal. Now I’ve decided to share it anyway, because I want to be able to tell my daughter: ‘I did everything I could.’ What I mean by that is that I do everything I can to raise awareness of the muscle disease Myotonic Dystrophy (MD), which can increase the chances of a successful treatment. At the moment there’s nothing that can be done about it, but developments are moving fast. Hopefully there will be a solution before the disease manifests more severely in Anieke.

Five years ago my sister started experiencing cramping in her hand. She went to the GP and had blood tests done, but nothing came of it. By chance, her GP happened to speak to a neurologist who said: ‘Have you ever considered the hereditary muscle disease MD?’ My sister called me in a panic when she heard this. I tried to reassure her: ‘A hereditary muscle disease? No way, it’s bound to be something else!’ But after that conversation I went searching online. I read that MD is passed down from generation to generation and that the disease becomes more severe with each generation. That means children in an affected family always have the most severe form. It’s also much more than a muscle disease — there are all kinds of different complications. The cause is an abnormality in the DNA, and the risk of transmission during pregnancy is fifty percent. All of this sounded much more serious than I’d thought. Worse still: it sounded familiar. Because I myself had also had cramping in my hands for a while, and at twenty-seven I had developed cataracts — clouding of the lenses in my eyes. That’s a condition that usually only occurs in older people. But the very worst part was that I recognised so much in the descriptions in my daughter Anieke, then three years old. She had learned to walk late, had trouble drinking, developed more slowly than other children, and had what’s known as a ‘tent mouth’ — one of the characteristics of MD. That’s a mouth that hangs slightly open, with lips forming a somewhat triangular shape. When I read this, I was shocked. It all fit. A few days later my sister sat down with the neurologist, and my fear was confirmed. She had MD. I immediately knew that I must have it too, and Anieke as well. In tears, I called my husband Jorg: ‘She has it.’ I felt in every fibre of my being that this was the start of a different life, with an uncertain future.

I’m always a positive person and often think: it’ll be fine. But now I don’t know if it will be fine. That’s why I found it hard to make peace with the diagnosis. On top of that, Jorg and I had just come through a tough period with our twin sons, who were born prematurely. They had just turned one, things were finally calming down a bit, and then this happened. I found it so hard that I could barely talk about it, with anyone. With Jorg it was the opposite — he threw himself into it. He read everything he could find about the disease, attended conferences, set up a foundation — anything to contribute even a little to the development of a medicine or treatment. A few times we went to see a social worker to talk about it, but that wasn’t for me. I remember the social worker telling us: ‘If the two of you are dealing with this so differently, the question is whether your relationship will survive it.’ Thankfully, she was wrong.

MD is a traceable error in the DNA. We discovered that my father passed it on to me and my sister, and that I passed it on to Anieke. My father barely has any symptoms, but my sister and I do — that’s the progression from generation to generation. I don’t see anything unusual in my sons, so we’ve decided not to have them tested yet; that can always happen later. But with Anieke, the characteristics are clearly present, and much more severe than in me. So we had her thoroughly tested, and we know for certain that she has it. The fact that I’m the one who passed this disease on to her is something I still find hard to deal with. Unknowingly, of course, just like my father — but still. I feel guilty. Even harder to swallow is knowing that the disease can be detected through PGT (preimplantation genetic testing / embryo selection). So if doctors had made the connection between my cataracts and MD sooner, I could have prevented my child from having it too. It still takes an average of ten years for doctors to link the symptoms to the disease. In many cases it goes so far that it’s only once a baby dies shortly after birth that investigations are carried out quickly and MD is found to be the cause. That’s why it’s so important that the disease becomes better known — so it’s recognised sooner and can be prevented for more people.

I notice I have MD myself when I try to open a door and my hand stays stuck in the same position. But it’s mostly my intestines that bear the brunt of it. There are days I can barely leave the house because of how much my stomach is bothering me. My biggest fear is the cramping I sometimes get in my tongue. It hits me out of nowhere. Maybe there will come a moment when I can no longer speak, can no longer read to my children, or when I might even die of MD. I recently read in a patient brochure that life expectancy with the childhood form of MD is forty to forty-five years. I put the leaflet down immediately. There’s no point anticipating that — you never know how things will go. I always hold on to a spark of hope that it will turn out better for Anieke. Like when we go back to the hospital for a check-up and she does all the eye exercises properly. Or when she was at mainstream primary school and, as far as I could tell, was doing quite well there. So it felt like a punch in the stomach when the teacher told us during a parent-teacher meeting that our daughter was struggling to keep up and asked if we’d ever considered special education. Anieke had trouble concentrating in class, she told us.

We ended up looking at sixteen schools. Some of them left me so sad that I walked out with tears in my eyes. Classes made up mostly of boys with very severe behavioural problems — my heart broke at the thought of my sweet little girl sitting among them. Thankfully we found a school that felt right, with small classes and a lot of attention for the children. Anieke loves it there — every day a happy, skipping girl comes home to me. She’s sweet and helpful and has lots of friends. With her chatter she can wrap anyone around her finger. School isn’t necessarily where she excels, but I can see she’s good at other things that will take her far in life. She’s sociable and well-liked by a lot of people. I see her, for instance, getting on well with elderly people at the care home. I think that with her charm and warmth, she can bring joy wherever she goes. Anieke is still too young to realise that the annual hospital check-up, where she has to do all sorts of ‘tricks’, isn’t actually a ‘fun outing.’ Or why she goes to a different school than her little brothers. I do dread the conversation I’ll have to have with her someday, when I’ll have to tell her that she’s sick. It’s difficult, partly because I don’t know exactly how the disease will develop. Will she ever become disabled? How fast will that happen? Will I end up in a wheelchair myself? I try to take it day by day — that works best for me. Besides that, I’ve made it my mission to make Anieke and our sons as worldly as possible. Because that we can still do. There’s still so much we can experience together. When the boys were two, we took a wonderful family trip to Africa. Soon we’re going to Australia to travel around in a camper van. I think that will be amazing. My goal is for my children to be happy, and when I look at them now, I can see that they are.