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UsherNet.org > What is Usher-Syndrome > Usher Study by Mary Guest > What to do
Retinitis Pigmentosa

Genetics

Problems

Reaction of Friends

What to do

Planning of Future

Summary

What to do

Early Diagnosis

The need for early diagnosis is essential if the traumatic effect of discovering this potentially blinding disease is to be reduced. However, this can only occur if the professionals who see the deafblind child during their school life are aware of Usher's and know what to look for. The major symptoms that should lead to an immediate referral are night blindness, extreme sensitivity to light and/or Tunnel Vision; also these children may have a problem with balance.

The family doctor, the class teacher and the audiologist who see the deaf child regularly need to be aware that the congenitally deaf child is in a high risk group for Usher. Other professionals such as the ophthalmologist, the otologist, the optician and the psychologist need information too, if early diagnosis is to be achieved.

The congenitally deaf constitute a high risk group within the population but those who are still at school and in units for the deaf around the United Kingdom are traceable. Screening tests which measure the field of vision could be administered between the age of 11 and 16 along with other checks such as dental, chest, hearing and developmental, which all children, within the state education system, undergo.

Better Figures Needed

Figures for the incidence of Usher syndrome in Britain are incomplete; in the USA more statistical work has been done but even there the figures are tenuous. (5) About 3 per 100,000 people in the US have Usher. Of all those who have a congenital hearing impairment, 3 to 6% are victims of Usher. Of the 70,000 to 100,000 population who have RP in the US, one out of four has Usher syndrome.

Thus, Vernon estimates that there are 17,500 to 25,000 people who will be deafblind due to Usher syndrome. As Vernon rightly points out, these figures show that Usher syndrome is all too common among deaf people. Ignorance amongst professional people who deal with deaf children about this syndrome is widespread. (6) This must change. The need for earlier diagnosis is paramount if benefit is to be had from educational guidance, career counselling, psychological coping techniques and genetic counselling.

Better Handling at Diagnosis

While it is true that at present the medical professional can offer no effective treatment for RP, they can and should offer time, sympathetic handling and honesty to the people in their are. What goes on in the consulting room when the patient and his family are told about the diagnosis of Usher syndrome is critical to the way in which they will all handle the situation later.

Too often the facts are given in a cold even brutal manner and the bewildered family is ushered out of the room before they have time to think. If the deaf patient communicates by sign language and finger spelling and no communicator is present it is possible that he has only grasped half of the truth. If the parents are too upset to explain, the 'victim' is left in the highly unsatisfactory state of knowing something is badly wrong, but not knowing what.

It is important that a sign language interpreter used to the medical terminology is made available at these appointments.

Much of this anguish can be avoided if the patient and the family are given a proper explanation of the condition and allowed time with the help of a communicator (if necessary) to ask questions and understand the implications of the disorder. The medical social worker should be involved to introduce the family to organisations, aids and benefits which may be needed in the future.

It is very important at this stage that the individual and the family are given the support they need and not left to face the future 'as best they can'. It may help the newly diagnosed person and his family to be linked with a family who are handling the situation reasonably well, in order to talk about their concerns.

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