Sense Information and Advice
Living with Usher syndrome
The experience of partners
Being the partner of someone with Usher syndrome brings challenges as well as rewards. The story below,
which is fictionalised, illustrates many of the issues that partners may face.
Sally’s story
Sally is James’ partner. They have been living together as a couple for the past five years, having met at
sixth form college.
Sally, like James, is hard of hearing and wears two hearing aids to assist with communication. She is
training to be an accountant. The couple plan to marry next year after Sally qualifies. They would like to
have children.
When they first met, Sally knew that James was visually impaired. He always sat at the front of the
classroom and had extra support in class. James seemed to be a loner, missing out on jokes and tending
not to socialise with the other students. However, when they spent some time together working on a
classroom project, Sally found James to be intelligent, funny and engaging.
As they got to know each other better and started going out, Sally realised that James sometimes needed
some extra support because of his visual impairment. James would take her arm when they went to the
cinema and came out after the film, or when they went out at night for a meal or to the pub. Sally realised
that James didn’t see well in the dark and needed time for his eyes to adjust to different lighting conditions.
He would trip over, or bump into things quite frequently and while he would always make a joke about it,
Sally knew that he was not just “clumsy”, but that he had quite poor vision.
During the time that Sally spent with James’ family, she found out that his condition was genetic and that his
sister Sandra was also affected. Although it did not dominate the conversation, the family would talk about
“Usher syndrome” quite openly. His mother, in particular, seemed very interested in the latest developments
in genetic research.
As their relationship developed, Sally became aware that James’ vision seemed to be getting worse. For
example, one evening in October, when he was coming home from work, James did not see a kerb,
stumbled, and broke a small bone in his foot. Sally tried to talk to him about this on several occasions, but
he just became angry.
Although she loves James very much, Sally is worried about their future together. As she has become
aware that his vision is changing, Sally has tried to find out more about Usher syndrome by looking on the
internet. She has found out that the condition is degenerative and that James may lose much more of his
vision. She knows that Usher syndrome is genetic and worries that their children will also be affected.
Although she feels guilty and tries to block out these thoughts, Sally sometimes worries that in ten year’s
time she will have having to “look after” James.
Despite these worries, James and Sally have a good time together. They’ve been on some exciting
holidays, have some close friends and share lots of interests. They are also looking forward to buying their
own house, and if all goes well, to starting a family.
Relationships – the impact of Usher syndrome
Usher syndrome is a challenging condition for all those that it affects. For the partner of somebody with
Usher, these challenges can be both practical and emotional, and may bring up a range of difficult feelings,
such as guilt, hopelessness and anger, that can place a huge strain on a relationship.
Partners often recognise the implications of Usher syndrome over time, for example:
by observing their partner in different situations
meeting their family, with other affected siblings, or
when considering their long-term future together.
In common with many young people in a partnership with somebody with Usher, Sally had particular
concerns about what would happen if James’ vision got worse and whether they should have children.
Although partners often feel guilty about such concerns, or try to deny them, such feelings are very natural
and need to be addressed if the relationship is to be maintained and strengthened.
Usher syndrome, in common with all forms of dual sensory loss, affects an individual’s mobility,
communication and access to information. In practical terms, the partner of somebody with Usher syndrome
may act as a sighted guide, help with communication and offer support with everyday practical tasks.
In emotional terms, a partner may share the experience of loss with the person with Usher, as vision, and
possibly hearing and balance, change. This sense of loss may be reinforced as roles and responsibilities
within the family change, and the future that they envisaged together starts to seem unobtainable. The
impact on both partners may be significant.
Communicating with each other
Many people have considerable strengths and resources, and in stressful situations simply “get on with it”.
This may lead to a reluctance, or inability, to acknowledge when outside support could be helpful.
Medical and social care professionals generally only have contact with partners - in their own right - once
the situation of the partner has reached crisis point and is affecting their own health and well-being. While
this situation may never arise in many families, it should be remembered that Usher syndrome is a
challenging condition, where apparently small physical changes can have a significant practical and social
impact. This impact is often shared with a partner.
Recognising signs of stress - such as a disturbed sleep pattern, or unusual mood swings - is the first step in
learning to manage the impact that Usher syndrome might be having on a relationship
Outside support is most useful where both partners acknowledge the need or potential value of it. For
example, organising a Communicator Guide service can allow both partners to have some time apart to
follow their own interests, meet their own friends, or simply have some “space”. However, it is possible that
the person with Usher might resent their partner not offering this support themselves, or the partner might
feel rejected if somebody else provides the support.
Openness and honesty within the relationship provide the opportunity for both partners to express their
hopes, fears, anxieties and frustrations. This can be helpful in identifying the type of support, if any, which
might be useful for each of them.
Finding information and support
Information
Finding out more about Usher syndrome will often help to allay people's fears and misunderstandings.
Sense has a range of factsheets that will help to answer some of the questions. The Sense website also
provides up to date information on Usher syndrome, together with activities and events that are open to
people with Usher and their families. The Usher Team at Sense is always available to answer questions and
provide support, which may include visiting families in their own home.
However, face-to-face contact with other partners could also be helpful.
The regular social events advertised on the Usher Life website are open to partners and friends, as are
those organised by the Hearing Sight Impaired UK Group. Local Sense offices may know of small informal
family groups that meet locally.
All the contact details are listed at the end of this factsheet.
Emotional support
Often it can be helpful for a partner to simply talk to a close friend or confidant about their feelings. Voicing
anxieties can sometimes help to put them into perspective and help the individual to focus on what is
positive about their relationship.
Sometimes, however, it may be helpful to talk to an independent professional, who can listen and help the
individual to explore these feelings.
Your GP may know of a suitable counsellor working locally. Alternatively contact the British Association for
Counselling & Psychotherapy for a full list of accredited counsellors working in your region (contact details
are given at the end).
Practical support
The partner of somebody with Usher syndrome may have a number of challenging roles which pull them in
different directions. For example, they may have their own career, have primary responsibility for managing
the household as well as providing practical and emotional support to their partner. While often these roles
are taken on willingly, balancing these responsibilities can be extremely challenging. If you provide regular
support to somebody aged 18 or over you are entitled to ask your local Social Services Department for a
carer’s assessment, which provides you with an opportunity to discover whether there is any support
available that could make life easier.
The decision to have children – some considerations
When entering a relationship with somebody with Usher, many partners are concerned about whether they
“should” have children. This involves practical and moral considerations; weighing up the risk of the child
having Usher syndrome, with the fact that Usher is not life threatening and that people with Usher can lead
happy and extremely fulfilling lives.
In order for a child to have Usher syndrome both parents need to have exactly the same type of Usher or
carry exactly the same faulty gene. However people can carry the faulty gene with no outward signs or
symptoms.
Where both partners have been diagnosed with Usher of the same type, there is a high risk that their
children will have the condition.
Where one partner has the condition and the other is affected by deafness - as in the case of James and
Sally - it is recommended that the couple seek further advice from a genetic counsellor before having
children.
The fact that Sally is hard of hearing means that it is possible that she has Usher. Usher syndrome is a
relatively rare condition and we are not sure exactly how many people in the United Kingdom either have
the condition or carry one of the genes. In a survey of 48 profoundly young deaf children in 2000, 10 per
cent were found to have Usher (1).
Although the condition is being diagnosed increasingly early, some people are not diagnosed until their
functional vision is significantly affected. It is possible that Sally is one of these, but since she has reached
adulthood without showing any symptoms of retinitis pigmentosa (RP), it is very unlikely that she does have
Usher.
If they wish to have children, Sally and James would be advised to seek specialist medical advice:
Sally should have her vision checked for any abnormalities on her retina that might suggest the early
stages of.RP;
the couple should ask their GP to refer them to a genetic counsellor who would be able to advise them on
the risk of their children being affected by Usher syndrome.
In the case of couples such as Sally and James, it should be noted that their children will carry a gene for
Usher syndrome. If the children are simply carriers of the gene it should not affect their hearing or vision in
any way.
Couples where one has Usher and the other is unaffected
An unaffected partner may carry the same faulty gene that causes Usher syndrome in their partner. While
this is unlikely it is recommended that the couple seek further advice from a genetic counsellor before
having children.
Conclusion
Most people with Usher and their partners lead a very “normal” family life and manage change as it occurs.
However, Usher syndrome is a challenging condition, which may impact significantly on relationships.
Finding good quality information about Usher syndrome, sharing and communicating with each other and
seeking support early, before a crisis develops, are all factors which help to reinforce partnerships and
provide the opportunity for a happy and fulfilling family life.
(1) Mets, MB, Young, NM, Pass ,A, Lasky, JB. Early diagnosis of Usher syndrome in children. Trans Am
Ophthalmol Soc. 2000; 98: 237-42; discussion 243-5
Sources of help
Sense
Sense is a national charity that supports and campaigns for children and adults who are deafblind. We
provide expert advice and information as well as specialist services to deafblind people, their families,
carers and the professionals who work with them.
Sense aims to help people with Usher to live as full a life as possible, and provides a range of services:
* Information, advice and support to people with Usher and their families - particularly when the condition is
first diagnosed.
* Opportunities for people with Usher and their families to meet together - both face to face and online.
* Training for education, health and social service professionals to understand Usher syndrome and its
effects.
Please contact the Information and Advice Team for further information:
Tel: 0845 127 0066
Fax:
0845 127 0061
Text: 0845 127 0062
Email: info@sense.org.uk
www.sense.org.uk
Sense
101 Pentonville Road
London N1 9LG
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.
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 contact Sense.
Counselling
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 - see www.bacp.co.uk
or phone 01455 883316
Any comment?
This is one of a series of factsheets that provides information and advice for people with Usher and their
families. They were put together with the help of people with Usher, their families and professionals
experienced in this area.
If you have any comments or suggestions about the content of this factsheet, do please let us know.
Sense 2011