Desiree

In April 2023, Joshua, the son of Desiree and Robbert-Jan, was born. The pregnancy was actually worry-free. The baby didn’t move much in the womb, but there were logical explanations for that: “the placenta is in the way,” and “maybe he’s just a calm baby.” Labour started a bit earlier than expected but went well.

After the birth, however, Joshua was taken away immediately because he couldn’t breathe on his own and was very limp. No alarm bells went off for anyone right away – he had probably just had a slow start and needed to recover and gain strength. Still, that same day it was decided that Joshua had to be transferred by ambulance to the LUMC (Leiden University Medical Center). That’s when it became clear that something was seriously wrong. In Leiden, it was concluded that there was more going on than just a slow start. That was a shock, and a period of many tests and uncertainty followed. After two days, as brand-new parents, they had a conversation with a paediatric neurologist, who told them they didn’t know how things would go from here. “It could go either way,” they were told. Not only was Joshua examined – tests were also done on Desiree to get an idea of what might be going on with Joshua.

The doctors indicated there was a suspicion of a muscle disease. All the better-known muscle diseases were tested for, but each time nothing came of it. After four weeks, none of those tests had turned up anything, and it was decided to look at two more muscle diseases: MD (which occurs in 1 in 2,100 people) and Prader-Willi syndrome (which occurs in 3-6 per 100,000 children).

Desiree herself doesn’t have typical MD symptoms such as muscle cramps, cataracts or other MD features. The only things that fit with MD were her bowel complaints and a somewhat nasal voice. Five weeks of inner conflict followed, in which, on the one hand, there was hope that it wasn’t one of these muscle diseases, but on the other hand, hope for finally getting clarity. After five weeks the news came: Joshua has congenital MD.

“Your world does collapse for a moment then, not just because your child is sick, but because it turns out you’re suddenly sick yourself too. Unimaginable when you don’t have any symptoms yourself.” A DNA test was needed to confirm that Desiree also has MD. And the fact that it took such a leap in her son and shows up in such a far more severe form makes it hard to comprehend.

After a difficult start, during which Joshua spent months in hospital, he was allowed to go home with an oxygen generator (just to be safe), a saturation monitor and a feeding tube. This was a tough period with many setbacks; during this time they were in and out of the hospital several times.

By now they’ve been home for over six months, and Joshua is getting stronger all the time. He no longer needs the feeding tube, and the oxygen generator is out the door. Movement is still difficult, but with a lot of practice, it keeps improving. They enjoy the moments and take him everywhere with them. “We’re not to be pitied – we don’t let MD define our lives.”

“We couldn’t have prevented it, because no one, not even the neurologists, had any reason to suspect me of having MD, and yet I passed it on. I will never accept it, but I do have to find a place for it and learn to live with it.” Desiree is now gradually returning to work, and Joshua goes three days a week to a medical childcare centre, where he has a great time.

“Of course I’m afraid of how old he’ll get to be, and afraid for myself too. Naturally I started looking things up online. It’s very confronting, because I know I’ll get symptoms too, just not to what extent or when.”

Now, a year on, they’re thankfully able to celebrate Joshua’s 1st birthday. For Desiree, that’s the moment to bring MD into the spotlight and take action. “I don’t want to look back later and think, if only I had taken action.” Through every possible channel, she will spread their story, asking people to share it and to donate money. “I’m coming forward with my story because I want more people to know what MD is, and for more money to be raised for research into a cure.”