I am an academic neurologist and work at the LUMC and for SEIN. I am closely committed to the foundation because of the disease of my beloved wife. In the Medical Advisory Council of the Stichting Ushersyndroom I can share my academic experience and so make a contribution to scientific research into Usher Syndrome. Research is the only way to stop this disease with its far-reaching effects. Whether this research will lead to breakthroughs depends on asking the right questions and proper performance of the studies involved. I want to see to this in the Medical Advisory Council.
I work as a scientific researcher specialised in genetics at the Erasmus MC. I have been familiar with Usher Syndrome already from a young age, as several members of my family members suffer from Usher. In particular my grandmother, my great example and my heroine. She also was always interested in science and even while I was still studying, I told my grandmother about the most recent developments in scientific research into Usher. When I was diagnosed for Usher myself in 2017, this even strengthened my motivation to use my knowledge to find out as much as possible about Usher and to make good use of this knowledge. Therefore, when I came into contact with the Stichting Ushersyndroom, I knew that I wanted to devote my knowledge and experience to this right away. Scientific research is the ultimate way to find treatments for all Usher patients. This is what the Stichting Ushersyndroom wants to achieve and I will contribute to this by participating in the Medical Advisory Council.
In 1990, my ophthalmologist told me that I suffer from Usher Syndrome. This news came as a blow. At that time, there was no Internet yet and little was known about Usher. Half an hour later I stood outside ….. stunned, shaken and finished with treatment! How to go from here? I tried to ignore it and to live a normal life as much as possible. Of course, this was not easy, for I often felt a disaster approaching that sooner or later would make me lose my eyesight and my hearing. This meant that I often had to give up on things. Eventually, I lost my job at the surgical department where I had worked for 33 years in anaesthesia. After I had stopped working, I found out that there is an Usher expertise centre in the Radboud UMC. I was pleasantly surprised to hear that they were doing research into a treatment for Usher Syndrome. I went to Nijmegen straight away for an examination and to register in their database and, if possible, participate in scientific research. I also came into contact with the Stichting Ushersyndroom for which I really like to work as a member of the Medical Advisory Council. My objective was a solution for every Usher, both young and old.
My motivation to become a member of the Medical Advisory Council is that my daughter has been familiar with Usher Syndrome since she was seventeen. I have worked as a general practitioner in Haarlem, the Netherlands, for 34 years and I stopped my practice some years ago. I am highly interested in the background of this disease and any treatment. In 1993, when the Internet was not as extensive yet as it is now, searching it was a great deal of work and Machteld and I visited many meetings of the then patient association. On these occasions I always saw a group of positive ‘Ushers’, who eagerly took in all the news, but who at the same time knew that this was not the expected treatment for their disorder. I want to contribute to this search in the Medical Advisory Council together with other stimulating people with medical backgrounds.