WHAT IS USHER SYNDROME?
Usher syndrome is a rare inherited disorder. Children with Ushers syndrome are born deaf or hard of hearing and also develop visual impairment in childhood: Retinitis Pigmentosa (RP). Retinitis Pigmentosa begins with night blindness and the visual field becomes smaller. The visual field becomes smaller and smaller (tube vision), as if looking through a straw. Eventually, Usher syndrome leads to deafblindness.
The syndrome causes barriers to communication, mobility, independence and access to information.
Usher syndrome is the most common form of early-acquired deafblindness. Early-acquired means that you lose more and more hearing as well as vision during your lifetime.
Little is known about the course and rate at which hearing and vision will deteriorate. Most people with Usher syndrome retain central vision of about 5-10 degrees for a long time. But individual differences are very great, even within a family where several children have Usher syndrome.
Usher syndrome is an inherited disorder, in which both parent have passed on a defective gene to their child.
Little is known about the course and rate of deterioration of hearing and vision. Most people with Usher syndrome retain central vision in the eye socket of about 5-10 degrees for a long time. However, there is a great deal of individual variation, even within a family where several children have Usher syndrome.
Usher syndrome is an inherited disorder, in which both parent have passed on a defective gene to their child.
1 + 1= 3
The failure of two senses creates more problems than the sum of the two. It can’t be solved by simply adapting aids and training skills. The constant loss of ability is difficult to deal with. There is fatigue because all your energy is spent trying to compensate for one sense with the other. Limited vision and hearing make daily life with Usher syndrome very challenging. As limitations increase, quality of life can decrease and there is a high risk of social isolation.
4 DIFFERENT TYPES OF USHER SYNDROME
type 1 1: Children are born deaf and have a non-working balance organ. At childhood age, the first symptoms of night blindness and an increasingly narrow field of vision begin.
type 2 2: Children are born hearing impaired and develop the first symptoms of worsening vision around adolescent age.
3type 3: Children are born well-hearing or hard of hearing, but develop progressively worse hearing and vision in childhood.
4type 4: Children are born hearing well, but from puberty/young adulthood they develop progressively worse hearing and vision.
There is still much variation in the severity of the disease. It depends on the nature of individual mutations and the specific combination of USH mutations in patients.
There are 11 different genes involved in Usher syndrome and more than 500 different mutations (changes in the gene).
STILL NO TREATMENT
No treatment is still possible, but there are hopeful developments. A lot of money is still needed for that! Science faces great challenges in the search for solutions that will lead to a treatment for all 400,000 patients in the world who are deaf and blind due to Usher syndrome.
Therefore, Stichting Ushersyndroom funds projects and scientific research in the field of a treatment and for a better quality of life. With the goal: “By 2030, the Netherlands will be familiar with Usher syndrome and diagnosis, treatment and care will have become standard.
There are already many people with Usher syndrome who have told and shared their stories. In newspapers and magazines, on radio and TV and even on stage. Some books have also already been published!
THE SMALL WORLD OF MACHTELD COSSEE
How do you live your life if you know that one day your world will be quiet and dark?
The central figure in the documentary ‘The small world of Machteld Cossee’ knows that she cannot escape her fate. Still, she tries to live a normal life for as long as possible. This results in touching moments as well as frustrations and rows and moments of fear for the future.
Welcome to this small world
He was born deaf. And he will be blind as well. Jeff Horsten sings a self-written song about his impairments on YouTube.
‘I want to inspire people.
I do not see myself as a person with impairments.
I am just Jeff.’
He sings the song together with singer Jorien Habing. The text is about the ‘tunnel’, as Jeff experiences his life. It refers to his deafness and poor eyesight: Jeff looks through two ‘straws’ of 10 degree. People usually can see 180 degrees.
WHEN YOU SLOWY BECOME DEAF AND BLIND
Becoming slowly deaf ánd blind. It is hard to imagine. Yet this is the reality for people with Usher syndrome. In this interview, ENT specialist and Usher syndrome specialist Dr. Ronald Pennings of the National Expert Center on Usher syndrome in Radboudumc Nijmegen, explains more about Usher syndrome.
HAVE YOU BEEN DIAGNOSED WITH USHER SYNDROME?
You can find all the information you need on the Knowledge Portal. We have also developed a patient brochure. You can order this for free via the webshop.
EXPERIENCE USHER SYNDROME FOR YOURSELF?
Would you like to experience for yourself what people with Usher syndrome hear and see? Or would you like others to experience this?
These Usher syndrome simulations glasses and earplugs will give you an impression. These ‘Usher’ glasses and plugs can also be used to support your speech at school, presentation or sponsorship campaign. For sure people will then better understand what Usher syndrome is!
The Usher glasses are sold per 10 pieces in the webshop. Or order a free toolkit with posters and 2 pairs of glasses and earplugs.
Or take action and start a sponsorship campaign to raise money for more research on Usher syndrome.
