Living with Usher syndrome

Living with Usher syndrome
Usher syndrome is a genetic or inherited condition that affects hearing, vision
and balance.

People with Usher can achieve a great deal with the right support. Sense
knows many individuals with Usher who have gone on to further education,
travelled the world, taken on a responsible job and found a partner - just like
anyone else.

What is Usher syndrome?
Usher syndrome is the name given to a range of genetic conditions which
cause deafness or partial hearing from birth and sight loss over a number of
years. Some individuals are born with a profound hearing loss; others are born
with normal, near-normal or partial hearing. This level of hearing may remain
stable or deteriorate over time.

Sight loss often begins in late childhood and is caused by an eye condition
called retinitis pigmentosa (RP). Early symptoms of RP include difficulty in
seeing in the dark and in different lighting conditions. Over time, vision
gradually deteriorates until tunnel vision develops – although the extent of this
varies from person to person.

Many individuals with Usher syndrome also have balance problems.

How do you get Usher syndrome?
Usher syndrome is a genetic or inherited condition that is passed down though
families. In order for a child to have Usher syndrome, both parents must either
have the condition themselves or be carriers of the same faulty gene. Often
somebody who has the condition will not know anyone else in their family who
is affected.

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Although both parents will be carriers of the gene, it is extremely rare for them
to have any symptoms of Usher syndrome, or symptoms will often be
negligible. Usually, parents have absolutely no way of knowing that they carry
one of the genes for Usher syndrome.

How common is Usher syndrome?
Studies in the US and Scandinavia from the 1980s, suggested an incidence of
Usher around 4 per 100,000 births. Over 50 studies in schools for the deaf,
from around the world, suggested 3-6% of the deaf population had Usher
Syndrome. All of these studies focussed on deaf populations, particularly
those with a profound hearing loss.
More recently, research into the genetics of Usher has suggested 15-18% of
deaf and hard of hearing children have a genetic make up that suggests Usher
Syndrome, and that Usher in the general population is estimated at the rate of
1 in 6,500 births, or 15 per 100,000 live births.

The different types of Usher syndrome
There are three clinical types of Usher Syndrome: Usher Type 1, Usher Type
2, and Usher Type 3. The last of these has only been recognised recently.
Previously it was thought that most people with Usher in the UK had Type 1 or
2. However, we are finding increasing numbers of people with Usher who have
experienced a progressive hearing loss from childhood. These people may
have Usher Type 3.

Type 1
People with Usher Type1 are profoundly deaf from birth and have balance
problems. Most use sign language as their primary means of communication.
The hearing loss often remains stable throughout a person’s life and is
generally not helped by hearing aids. However recently, children with Usher 1
are benefiting from cochlear implants, thereby allowing them to develop
speech.
Most children with Usher Type 1 usually begin to develop RP related vision
problems between the ages of 8-12 years old, with vision problems first noticed
at night, followed by increasing difficulty with side (peripheral) vision. Visual
problems will progress.
The balance problems, caused by Usher Type 1 mean that children may be
late in sitting up and walking.

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Type 2
Children with Usher 2 are born with moderate to severe hearing impairment
and normal balance. The severity of hearing impairment varies, but many, if not
most, children can benefit from hearing aids. Children are likely to use speech
to communicate. The visual problems related to RP tend to progress more
slowly than in Usher 1 and also tend to begin later, usually in late teenage
years, or may not even begin until the 30s or 40s. The RP is variable from
person to person, so it is impossible to predict how much sight and hearing
someone might have at any given stage in life.
The person with Usher 2 is faced with continuously adapting to two changing
senses and the impact a change in one sense has on their ability to use the
other.

Type 3
Children born with Usher 3 have normal hearing. Hearing worsens over time
and may progress to profound hearing loss. However, the rate at which hearing
and sight are lost can vary between individuals, even within the same family.
Children may develop noticeable hearing problems by their teens and usually
are using hearing aids by mid-to late adulthood.
Vision problems usually begin during teenage years, starting with night
blindness. The sight problems are more variable and this can mean the central
vision is affected earlier. As with Usher 2, the RP is variable from person to
person, so it is impossible to predict how much sight and hearing someone
might have at any given stage in life.
Most people with Usher 3 will have near normal balance but some may
develop problems later on.
As with Usher 2, the person with Usher 3 is faced with continuously adapting to
two changing senses.
Usher 3 is rarer in the UK so diagnosis is often delayed.

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The symptoms of Usher syndrome
Vision
Retinitis pigmentosa
Retinitis pigmentosa causes night-blindness and a loss of peripheral vision
(side vision) through the progressive degeneration of the retina. The retina is a
light-sensitive tissue at the back of the eye and is crucial for vision. As retinitis
pigmentosa progresses, the field of vision narrows, a condition known as
“tunnel vision,” until only central vision (the ability to see straight ahead)
remains. Many people with Usher syndrome also have balance problems.
The cells on the edge of the retina, called rod cells, gradually stop sending
information about changes in light levels and the shape of objects on the edge
of vision. At an early stage the central vision is unaffected but a person may
first notice visual problems at dusk or in poor light, so-called night blindness,
and also a gradual reduction in the field of vision, loss of the outer edges of
vision, resulting in a tendency to miss things or trip over things. Later, reading
vision (detailed vision) and colour vision are affected.
Some people experience changes to the cone cells in the centre of the retina
although this is quite rare. This is the area that is responsible for detail and
reading vision. A person with loss of central vision may have useful side vision
that, for instance, helps them find their way around.
The pattern of vision loss is highly individual. The age at which symptoms start
is variable and may vary with the three different types of Usher Syndrome. The
rate at which vision deteriorates is also variable but is generally very slow with
changes occurring over years rather than months
Many people retain their central tunnel of useful vision until quite late in life,
thereby being able to recognise faces and continue reading.
People with Usher are often sensitive to bright light and have difficulty adapting
from one lighting level to another. They might also have difficulty judging depth
or seeing some colours. People will adapt to these challenges, particularly in
familiar situations.

Does Usher syndrome lead to blindness?
Few people with Usher lose their sight completely – that is, have no light
awareness. The extent to which vision changes, and the rate that it changes,
will vary. It is now known that these variations are linked to the specific gene
that is responsible for a particular person’s Usher.
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Many people with Usher become night blind in their teens or even earlier, but
will keep normal vision in daylight and will be able to read and see fine detail.
Loss of visual field also occurs over time. This influences the person’s ability to
see around them and move around safely, particularly in unfamiliar areas.

Routine ophthalmic check ups are important to monitor any changes in a
person’s vision and detection of further complications (e.g. cataracts)

Hearing
Usher syndrome causes sensori-neural or nerve deafness, which affects the
transmission of sound to the brain. According to the type of Usher syndrome
(link to type), the individual may experience moderate to profound deafness.
Some children with a profound hearing loss may benefit from a cochlear
implant or implants, which successfully help many children to develop speech.
Cochlear implants for both ears are becoming the norm, especially for visually
impaired children.
Sign language is a first choice of language for many people with Usher and is a
useful additional skill for those who choose to use speech.
Children who have partial hearing will benefit from the use of hearing aids. With
early diagnosis and the introduction of hearing aids at an early age they will
usually develop speech and be able to attend mainstream schools.
People with Usher Type 3 who develop profound deafness over time, often
benefit from cochlear implants. Since they also have a recognised visual
impairment, they may be eligible for two cochlear implants, one in each ear,
which should improve hearing to some degree.
Routine auditory assessments are important to monitor any changes in
hearing, the impact of further vision loss on hearing, and to assess the need for
or modify existing hearing technologies used.

Balance
Some types of Usher syndrome affect the development of the vestibular organs
in the inner ear, which are responsible for balance and sense of space. People
with Usher Type 1 have poor balance and about half of all people with Type 3
develop balance problems over time. People with Usher Type 2, may
experience balance problems as a result of a combined sight and hearing loss.

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Emotional reactions
When someone discovers they have Usher syndrome the news can be
devastating for them, and their family. Many people do not realise they have
the condition until they are teenagers and begin to have problems with their
sight. They will have grown up as deaf, or partially hearing, and coming to
terms with losing their sight as well can be very hard.
As their field of vision reduces, people with Usher can feel very isolated, not
just from the hearing sighted world, but also from other deaf people who may
be their main friends and acquaintances. They will also often experience
communication problems as it becomes more difficult for them to see sign
language, or to lipread.
Most people will be very shocked and upset when they are diagnosed with
Usher syndrome. They will often feel very frightened and may become
extremely depressed about the future. They may also feel very angry and ask,
“why me”?
 Some people may benefit from ongoing counseling, which aims to help people
to adjust to their decreasing vision and changed life circumstances. They may
also benefit from counseling at times of significant change.
Meeting other people who have Usher, or who understand the condition, can
break down the sense of isolation and provide support.

Reactions of families and friends
Parents are always shocked to discover that their deaf child also has retinitis
pigmentosa, and it may take a long time to really accept what is happening.
The whole family and friends may go through a period of emotional upset
before coming to terms with the situation. Many parents find it very helpful to
meet up with parents in a similar position.

Getting the right support
It is important that people with Usher get the right training and support to learn
the skills they need to cope with life when their sight gets worse. People with
Usher may also be entitled to support from their local authority. The Deafblind
Guidance issued by the Department of Health, requires local authorities to
ensure that individuals with combined sight and hearing impairments are
assessed by a professional who has received training in deafblindness - in
particular to assess the need for one-to-one support, assistive technology and
rehabilitation.

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Communication
Many people born deaf will have learned to use British Sign Language to
communicate. As their sight narrows they will still be able to use and
understand sign, provided people sign to them within their remaining visual
field. If this remaining vision fails some people may then use tactile, or hands-
on signing, by placing their hands over the hands of the signer so that they can
feel the signs being used.
People born with partial hearing will usually continue to use speech to express
themselves. Some may learn finger-spelling and signing to receive
communication.

Planning for employment
By their twenties, most deaf people will be in training for employment, or
already be in work. Those who have RP may well be doing work which will
eventually prove difficult or even dangerous to carry out.
The rate at which someone's vision declines in their twenties is hard to predict,
and so it may not be easy to decide when to change course. Should the keen
young motor mechanic and student nurse carry on, and have perhaps 10 to 15
years of work, or should they change to something that they can work at even if
their vision becomes severely restricted? It is important that the young person
with Usher receives career guidance that is realistic but not too restrictive
Access to Work is a government grant which aims to provide advice and
financial assistance to employees with disabilities and their employers. Access
to Work might pay towards a support worker or the assistive equipment needed
at work. It can also pay towards the cost of getting to work for those who
cannot use public transport.

Successful Usher people
Despite the enormous challenges that Usher syndrome brings, it is important to
emphasise that many people with Usher have come to terms with their
condition and go on to lead fulfilling, independent lives. People with Usher can
and do have relationships, get married, have children, go to university, travel,
go to work and enjoy numerous leisure pursuits.

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Sources of support
Usher Life
www.usherlife.co.uk.
This is an independent, dedicated, UK website for people who have Usher
syndrome. The site includes details of forthcoming social events for people with
Usher and their partners.

US Families(for Usher Syndrome)’
www.facebook.com/groups/371009117557/
This is a group that aims to bring parents & families of children and young
people that have Usher Syndrome together.....

International Usher Syndrome Network
www.facebook.com/groups/i.ushers/
This is a peer support group, where like-minded people can exchange
experiences and help each other cope with having Usher Syndrome.

Hearing and Sight Impaired Group (HSI)

The Hearing and Sight Impaired Group brings people together to combat
isolation and provide mutual support to its members. It holds regular meetings
as well as social events. It also campaigns on local and national issues. For
more information, www.sense.org.uk/content/sense-branches or contact the
Information and Advice Service, using the details on this factsheet.

Counselling
GPs may know of suitable counsellors working locally.
The British Association for Counselling & Psychotherapy can provide a full list
of accredited counsellors working in your region
Visit: www.bacp.co.uk

Where can I go for help?
If you:
•   would like to find out more about deafblindness or the services for deafblind
    people in your area

•   require information in alternative formats including braille, large print or
    audio

•   would like this fact sheet to be translated into your first language,
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please contact Sense’s Information & Advice Service:

Telephone: 0845 127 0066 or 020 7520 0972

Text phone: 0845 127 0066 or 020 7520 0972

Fax: 0845 127 0061

Email: info@sense.org.uk

Website: www.sense.org.uk

If you have comments or suggestions about this information sheet, we’d love to
hear from you.

This will help us ensure that we are providing as good a service as possible.

Please email publishing@sense.org.uk or telephone/textphone 0845 127 0066.

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