Yesterday, 13:00 • 6 minutes reading time
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THE HAGUE – ‘Sometimes I pull it off better than others.’ Joyce de Ruiter from The Hague (37) has Usher Syndrome, a rare disease that causes her to slowly become blind and deaf. Saturday is International Usher Awareness Day. Omroep West broadcasts the documentary Silence in the Night about Joyce. She was admitted a year ago, now her vision has deteriorated further. But she refuses to give up. ‘My mission is to show what is still possible!’
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In the documentary she says that at that moment she is looking through a tube of about 10 to 20 degrees. Last month she had to be checked at the Radboud UMC in Nijmegen and it turned out that it had deteriorated further. ‘I participate in scientific research into the natural course of the disease. One of these tests is a visual field test, after which colors are shown to show what I can still see. This goes from a single yellow and green square to multiple red squares, with red being the last step. But most of it is already black. So I don’t see anything there anymore. It’s very confronting.’
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Her brother has the same condition. Usher is hereditary. “He’s three years older. I still see a tiny bit of light and color in the outer ring of my field of vision, with him that has completely disappeared and that is also my foreland. When I was diagnosed, the doctors said that around the age of 40 my vision and hearing would be really minimal. Now I’m 37 and I’m in that phase that I was so afraid of.’
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Slow growth
Every year Joyce dreads the research into the progression of her disease, but the fear of the deterioration no longer completely controls her life. ‘It is also a process that you slowly grow into. And I am married, have children, did two HBO courses, have worked in the corporate world. All things I never thought would work when I was diagnosed with Usher.’
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But it did not go without a fight, because she has had a burnout three times. And after the last burnout, she was rejected and could no longer work in business. ‘But as a speaker I now have my own company in which I decide in which form I can work, I can earn my own income and remain meaningful for society.’
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Joyce has Usher syndrome and is slowly becoming blind and deaf
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Support to fellow sufferers
With her company she gives lectures about change and agility. She is also an ambassador for the Usher Syndrome Foundation to increase awareness of the disease and to raise donations for scientific research into a treatment. Usher syndrome is very rare. The Radboud UMC estimates that about six hundred to a thousand people in the Netherlands suffer from this in various variants in terms of turnover. Children who have it are often born hearing impaired and often turn out to be night blind.
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‘When my brother and I were diagnosed, the internet was not what it is today and we lacked role models to show what is still possible. I hope that as an ambassador of the Usher Syndrome Foundation, without romanticizing it, I can also give parents of a young child who receives this diagnosis a little hope and confidence for the future,’ says Joyce. ‘And most importantly: much more money needs to be made available for the development of a treatment.’
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Research very complicated
In the meantime, research is being conducted into a way to treat the syndrome. ‘But we are very uninteresting commercially,’ says Joyce. That’s because the syndrome is so rare. In addition, it is also very complicated. ‘Usher syndrome is a genetic abnormality with many different variants. For example, I have variant 2A, which is the most common form. But here again there are all kinds of variations of gene mutations. And each gene mutation has its own ‘function’ and therefore also requires a treatment method.’
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Specialists have been researching a possible drug for years. ‘There are countless scientists eager to get started, but there simply isn’t enough money to fund this. Research is being done on zebrafish that are genetically nearly identical to humans when it comes to the course of Usher. Hopefully in a few years’ time they will know how you could start treating in the future.’ But even if a drug is developed, it often takes years before it can actually be used.
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Stop now main
Joyce hopes that a treatment will become available in the relatively short term to stop the deterioration of hearing and vision. But that requires a lot of money. ‘Sometimes I’m really angry when I see what money is wasted in the Netherlands. Then there is a collection for some fountain or the renovation of a building. A lot of money is going to a mud wall in the new House of Representatives. When I hear things like that, steam really comes out of my ears. Then I think: go and cure diseases!’
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And meanwhile, Joyce’s sight and hearing is diminishing. “I am now mentally preparing for that day when I would benefit from a service dog. And I already have a cane for when I go out in the dark or in crowded environments such as the station. But that doesn’t really make me feel safe. There are so many people who don’t pay attention and just sit on their cellphones.’
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With heart and soul
Cycling is no longer possible, so Joyce and her husband bought a tandem. ‘Living with the Usher syndrome is a process of continuously handing in, collecting and looking again at what is still possible. It’s tough, but it doesn’t make life impossible or unbearable. Although I do hope that the generation that is now born no longer has to experience the limitations of hearing and seeing. And I am committed to that, together with all the volunteers of the Usher Syndrome Foundation!’
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The documentary Silence in the Night can be seen at Omroep West in the WestDoc program. This will be broadcasted on Saturday from 5 p.m. on TV West.
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