Maartje living with Usher syndrome I want my daughter to be able to dream, and keep dreaming

At a glance, it’s hard to tell Maartje de Kok – 41, married and mother of four – has Usher syndrome. Though she manages her life very well, it took her a long time to get to that point. “I have learned to be optimistic, but the somberness is always there.”

Photo of Maartje

I have learned to be optimistic, but the somberness is always there

Maartje de Kok

Maartje lives in a brand new house with her husband Peter and her kids Amber (11), the twins Ingmar and Jente (8) and Kiki (6). She has a job as a social worker, helping parents who have children with a visual handicap. Together with Peter she manages her household quite effectively, and last summer she even gave back the guide dog that she had had for seven weeks. “It was the sweetest dog, but it just felt like an extra child. Every time I finally had some time to sit down, I had to walk the dog. It’s just better this way.”

To an outsider it might not be immediately obvious that she has Usher syndrome type 2, and that her field of vision is only six degrees, instead of 180. But it’s something she has struggled with for a long time. “I knew for sure when I was 19, although my ophthalmologist had her suspicions when I was 15. I got hearing aids when I was 2.5 years old already, but only in hindsight was it obvious that my eyesight was deteriorating as well. I couldn’t play games in the dark during school camp when I was 12, and I once fell off the stage during a school musical because somebody turned off the lights before I reached backstage. This night blindness slowly progressed until it affected my vision during the day too. By the time I was 15 I was an avid netball player, playing in the highest junior team. But then during the summer I did a lot of reading in the sun without sunglasses, and my vision got worse quite quickly. Because of my experience and talent I was able to compensate for a while, but in the end I had to stop playing netball. It was the same with going out; I had trained myself to memorize the route to the bathroom in a bar, for example. And when we cycled home in the dark I would just focus on the markings on the bike path or the lights in front of me.”

As she got older, Maartje struggled with the new reality of losing both hearing and vision. “I used to have terrible nightmares when I was adjusting to the idea of having Usher, and I’ve suffered two burnouts and struggled with depression. Before I got the diagnosis I felt like I was ready to spread my wings and make something of my life, but then it got taken away from me.”

Maartje de Kok with her family on the couch

Maartje managed to obtain a degree in social work and was involved in setting up a foundation for Usher syndrome, informing people about life with Usher and raising funds for scientific research. “With our campaigns we stimulate young patients to ‘come out of the closet,’ and create awareness” she says. “It’s important that we start understanding the disease. For this reason the Usher syndrome foundation supports the CRUSH study at Radboudumc in Nijmegen, the Netherlands. The study and accompanying database should uncover how the disease progresses.”

A few years ago, Maartje spent two weeks hiking the pilgrim’s path to Santiago de Compostela. During those weeks she was challenged in new ways. “A buddy accompanied me to guide me through the hills. Every day we slept in a different place, which meant every day I had to learn new routes to the bath-room and exits. I managed very well though, and applied all kinds of tricks. It was a healing experience, and I found a lot of calm.”

She also found a renewed ambition to work, to be productive and to use her education. “I thought to myself ‘Let’s say I have ten years of vision left. What can I do?’ and decided to do a writing course and get a job. What I really rediscovered, I should say, is my dreams. I dared to look into the future again.”

A therapy is something she thinks about with some ambiguity. “It’s scary to allow hope into my life, because everything has always been about things getting worse. And I’ve heard promises from doctors and researches before – we were going to have a cure in 10 years, and that was 20 years ago. On the other hand, one of my daughters has Usher syndrome too. Jente is eight years old, and she still has so many milestones ahead of her. With Usher syndrome the clock is really ticking; if there is a therapy before she’s 15, she might be able to keep playing netball, which she enjoys just like I did. If the therapy comes when she’s 18, netball and driving a car might be out of the question but riding a bike or studying might not. And it goes on like that. That’s the time pressure that we’re under. I know how Usher narrows life’s path of choices, and I don’t want that to happen to her. I want her to be able to dream, and keep dreaming.”

Source: ProQR’s Annual Magazine 2018

Learn more about ultevursen (QR-421a) for Usher syndrome and retinitis pigmentosa.