An early diagnosis is crucial. In the first place, early intervention with hearing aids and/or cochlear implants is required to stimulate the development of language and speech and communication with others as well as to enhance education and social skills.
Further, a diagnosis is important in connection with the choices of education, work, having children and any participation in clinical trials.
The neonatal hearing screening, also called algo screening or OAE screening, is a hearing test for new-born babies. All children born in the Netherlands are eligible to this test.
A child that appears to have any trouble hearing is referred to the Audiological Centre for further hearing tests. Usually a consult with an ENT specialist is included as well.
The physician discusses the possibility of a DNA test to find the cause of the deafness. After approval of a DNA test, the child will be referred to the antropogenetic department. The clinical geneticist will, if necessary in cooperation with the ENT specialist, discuss the outcome of the DNA test with the parents.
If no tests in connection with hereditary deafness were done in the past, it often is the ophthalmologist who makes the diagnosis for Usher Syndrome as soon as the first eye problems occur. The ophthalmologist can quite easily see any deviations of the retina by means of a slit lamp and advise to do further tests. The outcomes of these tests combined with the loss of hearing may lead to the diagnosis for Usher Syndrome. The outcome of a DNA tests can confirm the diagnosis.
After you have been diagnosed with Usher Syndrome, you can request a second opinion from another specialist. You need a referral from a doctor or general practitioner for this. It is also always advisable to make an appointment after the diagnosis at the National Expertise Center Ushersyndroom in the Radboudumc in Nijmegen. You also need a referral from a doctor or general practitioner for this.
At this moment, 10 different Usher Syndrome genes are known, all of which are involved in the production of an Usher protein. The various genes are divided into three clinical types (USH 1, USH 2 and USH 3) and the gene is indicated by a letter (A, B, C, etc.).
It is normal that after having been diagnosed, you need a period to come to terms with the changed picture of the future. This will, however, remain a process of coping with loss after this period.
The genetic outcome is usually communicated by an ophthalmologist, an ENT specialist or a clinical geneticist. How to read this outcome? What goes wrong in the DNA and what does this mean?
Due to a writing error in the DNA a protein can be produced incorrectly or not at all.
When one of your children is diagnosed for Usher Syndrome at a young age, brothers and sisters do not necessarily also have to be tested right away. Testing is only useful when they also show signs of loss of hearing. They do, however, have an increased chance (60%) of carrying the mutation in the Usher gene.
If you have been diagnosed for Usher Syndrome, we advise you to register for the CRUSH database. This is because then you will be known to the National Usher Syndrome Expert Centre in the Radboud UMC in Nijmegen, the Netherlands. Consequently, you can be informed or called up for trials that are to lead to a treatment.
You or your child has been diagnosed for Usher Syndrome. What can you do next? At this knowledge portal you will find information to help you. Also take a look at the blog series ‘De dag dat ik de diagnose kreeg’ [The day that I was diagnosed for Usher Syndrome] or read more in the section ‘In daily life with Usher’.
Many people have already been interviewed for daily papers and magazines. Some even featured on television and radio. They tell about their lives with Usher Syndrome.
Perhaps you feel the need to come into contact with other parents or with people who suffer from Usher Syndrome just like you.
Interesting and impressive documentaries have been made.
After having heard the diagnosis of your child or of yourself, you may feel very powerless.
Many parents and young adults suffering from Usher Syndrome like to help organise campaigns and events to collect money for further scientific research that is to lead to a treatment. This also is a good way to meet fellow-sufferers and other parents. Doing something together does not only help to come to terms with the diagnosis, it also increases the understanding of people around you. Do you want to know how you can help? Take a look as the campaign website of Stichting Ushersyndroom.