The public evening organised by the Ophthalmology department of Radboudumc was chaired by Cathy van Beek, member of the Board of Directors of Radboudumc. She complimented Ushersyndroom.nl on its growing publicity and sportive campaigns that resulted in almost € 50,000,- in 2015 already.
In the room there were almost 200 (parents of) people with diverse retina disorders. It was an informative evening, in particular for those who were recently confronted with a diagnosis.
Know your genes
After a word of welcome by Carel Hoyng, ophthalmologist at Radboudumc, the floor was given over to Camiel Boon, an eye researcher who obtained his doctorate with a dissertation on hereditary retina disorders. He argued in favour of ‘Know your genes’: in Nijmegen an RD5000 database is set up in which all genetic data of people suffering from a hereditary retina disorder are stored. Everyone is personally responsible for asking the ophthalmologist to have the data stored in this database. Camiel Boon: “In view of all recent developments it is wise to go to the ophthalmologist for a check every 1 or 2 years.”
[Ed.] As soon as sufficient funding has been raised, the set-up of a database for Usher Syndrome containing all audiological and visual data can be started. You can now already register your contact data through email@example.com. Here read more about the research project Database for Usher Syndrome
Before the break, Rob Collin, researcher of Medical Genetics at Radboudumc, gave a short explanation of the functioning of the genes and the complexity of the development of gene therapy.
[Ed.] Here read more about the development of a gene therapy methodology for treating Usher Syndrome.‘Zebrafish: our hope for the future’
Finance scientific research
The theme for the evening was the need for more money for scientific research. Several times an appeal was made to the audience to take a stand for raising funds with which the period for developing a treatment could be shortened. This is a great challenge, because specific therapies are to be developed for each gene mutation.
Carel Hoyng: “Annually more than € 20 million is spent on care for people with a visual impairment. Only € 1.5 million is invested in a cure; this is a huge imbalance.” Ushersyndroom.nl commits itself completely free of charge to making Usher Syndrome more widely known and collecting donations for financing scientific research aimed at decreasing this imbalance.
After the break there was an interactive panel discussion with the attendants. This was done by means of a number of statements. Those present could not give a univocal answer to the statement of ENT specialist Ronald Pennings of Radboudumc whether of not parents of young children that are hard of hearing should have their children tested for Usher Syndrome by default. Early diagnosis can enable parents to better guide a child in, for instance, the choice of school or daily awkward situations. However, early diagnosis also means that parents are burdened with many years of concern. It became clear that there is an enormous need for professional care after the diagnosis.
Besides the programme in the room there was ample opportunity to come into contact with fellow sufferers. Ushersyndroom.nl was present as well with a stand that attracted a lot of visitors.
People in the room were inspired to start acquiring donations for scientific research themselves. Therefore many of them went home with an Ushersyndroom.nl toolkit containing promotion materials for starting a campaign in their own circle.
Click here to see photos of the evening.