Usher syndrome is an inherited disorder, which affects the ability to hear and see and sometimes causes vestibular dysfunction. There are 800 to 1000 people with Usher syndrome in The Netherlands and about 400,000 people worldwide. This rare disease is progressive in nature, which means that both hearing and vision are gradually deteriorating and eventually lead to complete deafblindness. There is no treatment yet to stop this process of getting deaf and blind.
- A child with Usher syndrome is deaf or severely hard of hearing at birth. The child can either perceive no sound or the sound is very damped, because the high tones in speech, as well as those in music and all environmental sounds, are hardly heard. Learning to communicate through speech is difficult and the consequences are extensive.
- The hearing loss deteriorates by 5-10 decibel every 5 to 10 years. A significant portion of the hearing impaired with Usher syndrome becomes so severely deaf that even the hearing aids are no longer adequate. An adult in The Netherlands can only get one cochlear implant, which really does help in communication.
- However, due to the one sided hearing, localization of sound is no longer possible and leads to problems with orientation and mobility.
The vision problems often start during childhood or puberty and resembles the eye condition Tapeto Retinal Dystrophy (TRD) or Retinitis Pigmentosa (RP). Initially, the child or adolescent is only night-blind, with some signals like seeing less stars in the sky, difficulties with biking at night or difficulties with identifying and locating people in a dimly lit location.
Later comes the tunnel vision in which the peripheral vision is gradually reduced to the size of a straw. People repeatedly throw cups, walk through poles and open doors or ignore a greeting hand. In the end it becomes more difficult to lip-read and the words have to be told by tactile signing or with braille.
Do you want to see what tunnel vision is?
The tunnel vision can be blurry with less contrast and sensitivity to (bright) light. Too little light, too bright light or backlight complicates the ability to see even more. It does eventually create problems in reading and recognizing faces. Cataract may also appear at a relatively young age.
Drastically changing future perspective
A lot of people with Usher syndrome get the diagnoses at adolescence or as an adult. When being diagnosed the future perspective changes drastically. There is a growing group of parents receiving the diagnosis to their child much earlier because of the recent possibilities of gene diagnostics. They wonder if they should tell their son or daughter.
Usher syndrome, being a progressive disorder with limitations in communication, information and mobility, means that people with Usher syndrome must continuously adapt themselves to their impairment in relation to their environment. Vision cannot make up for the hearing loss and hearing cannot compensate for the vision loss. Eventually, people with Usher syndrome become deafblind and there is a risk at social isolation.
Processing the diagnosis and learning how to deal with the consequences of Usher syndrome requires a lot from the people themselves, but also from their parents, their partners, their children and others around them.
Want you to know more about the impact of usher syndrome in a family? View this documentary ‘Hear, see and feel’