Living with Usher - The experience of parents

Usher syndrome - The experience of parents

A diagnosis of Usher syndrome within the family can be extremely challenging for parents. The story below, which is fictional, illustrates many of the issues that they face.  

Margaret and Colin’s story

Margaret and Colin have two sons, James, 24, and Tom, 19, and one daughter, Sandra, 21. James and Sandra both have Usher syndrome Type 2. They were both born hard of hearing. James was found to have retinitis pigmentosa (RP) at the age of 13; his sister was diagnosed soon afterwards when she was aged 10. 
Margaret and Colin were happy and excited when James was born. As a very small baby James seemed fine, but as the months went on Margaret began to feel that “something wasn’t quite right”. James did not seem as responsive as children of a similar age. Unless she was standing directly in front of him, he would not seem to react to her voice; he seemed reluctant to explore or to play with other children and wanted to be close to his parents most of the time.  
At this time Colin was working long hours to support the family. He shared some of his wife’s concerns about James, but at times wondered whether she was being over anxious.The GP also suggested this when Margaret talked to him about her concerns and she began to doubt her own judgement.
At the age of four, James started to attend a pre-school nursery, where staff observed that he was reluctant to interact with other children. His speech was poor and he had difficulty pronouncing many words. They suggested that he might be deaf. James had passed previous basic tests, but nursery staff suggested that James should have his hearing re-tested. 
The audiogram showed that James was severely deaf. He was provided with two hearing aids which were obviously uncomfortable and he would pull them out at the first opportunity. 
Later, James attended a small Partially Hearing Unit (PHU) attached to a local school. He made friends and with additional support from a speech therapist and a teaching assistant his language improved and he started to participate in class. Gradually he began to accept and use his hearing aids.

Meanwhile, his younger sister Sandra had also been diagnosed as having a hearing impairment and was being offered similar support.
Margaret and Colin were both initially shocked at the news that James was hearing impaired and were concerned about his future. In retrospect, Margaret felt a sense of relief that they now knew what was affecting James. She could see that the support James was being offered was having a positive impact as he gradually became more communicative and outgoing. 
At the age of 11 James started at the local comprehensive school. He was provided with one-to-one support and the classroom had a loop system installed. James did reasonably well in class but always tried to avoid PE and games, saying that he was ill or had forgotten his kit. He was teased a lot in the playground for not joining in the football kick around. As time went by his class work began to suffer, which both his parents and his teachers attributed to playground bullying.
During the spring half term break when James was 12 years old the family went on a camping holiday. James constantly tripped over things and had to go to Accident and Emergency when he stumbled, fell next to the bonfire and burnt himself. His parents told him off for being clumsy.
Margaret and Colin both started to recognise that James hated going out at night, he wanted all the lights left on in the house, did not like going to school and would fight with his brother and sister more than usual. His parents were just starting to come to terms with their children’s impaired hearing and could not conceive that James might have an additional “problem”. It was only when a new teacher suggested that the issue might be with James’ sight that Colin and Margaret started to consider this possibility.
As James was sent for a series of eye tests, the thought that their son might be both deaf and blind was horrifying to his parents. They argued, blamed each other and denied that this was happening. On reflection they both recognise that this affected every aspect of their lives; their family, their work, their social lives and, of course, their relationship with each other.
Shortly afterwards, James, and then his sister Sandra, were diagnosed as having Usher syndrome. Both were told about their condition at the time they were diagnosed. They were offered additional support at school, and aids and equipment to help them at home. Their parents received support from an advisory worker from Sense.
Gradually, as they started to learn more about Usher syndrome and meet other parents and families affected by the condition, Colin and Margaret began to realise that James and Sandra would probably not experience a total loss of sight and hearing, and could lead fulfilling lives.  Even now, however, they do worry about their children’s future and sometimes still feel guilty that James and Sandra have Usher syndrome.


Discovering Usher syndrome in the family

James was diagnosed as having a hearing impairment relatively late, which affected his language development and education. As a baby his hearing was tested using the “distraction test”, which proved to be inconclusive. The current NHS Newborn Hearing Screening Programme aims to offer all newborn babies a hearing test within the first few weeks of life. The first test (Automated Otoacoustic Emission) is not painful or uncomfortable and can usually be done when the baby is asleep. Where the response is inconclusive, a series of additional tests are undertaken.
Early diagnosis of hearing impairment allows parents to make informed decisions about their child’s future. This might include whether to use sign language or adopt an oral / aural approach to communication, or whether to consider a cochlear implant or use hearing aids and other types of assistive technology.
This universal screening programme also means that parents are rarely placed in a position where they have to convince a medical or educational professional that their concerns are justified.
Colin and Margaret were both aware that James was experiencing additional difficulties, but, perhaps subconsciously, chose not to discuss their concerns, or attributed his behaviour to other causes. They used to say “he’s just not very good at games” or “he’s a little clumsy, but he’ll grow out of it”. Only when the teacher mentioned her suspicion that James’ sight was poor did they start to acknowledge that further investigation was required.
Retinitis pigmentosa (RP) is the eye condition that affects people with Usher syndrome. Until recently, parents of deaf children had no way of knowing that their child had the condition until their child started to exhibit signs of visual impairment. Now much more sophisticated tests have been developed which allow doctors to identify abnormalities on the retina at a much earlier stage, before vision is noticeably affected. This has resulted in some children being diagnosed with Usher syndrome at a very early age. 
Sense and the National Deaf Children’s Society have published useful guidance for families and professionals about how the vision of children with hearing impairments can be assessed and looked after. For a copy of Vision Care for your Deaf Child contact Sense or visit our website.
Like many families with children with Usher syndrome, Colin and Margaret had no awareness of any disability in either side of the family. Discovering that two of their children were deaf was hard in itself but learning of their additional difficulty was a huge shock. Many families who talk to Sense speak about the impact of finding out that their child has a second sensory impairment. The whole family may be in turmoil.   
When a parent discovers that their child is disabled in some way they will often experience feelings such as anger, denial, depression and guilt, feelings which we generally associate with loss or bereavement. Most parents think about their children’s future and often have high aspirations for them. When their child is diagnosed with a condition such as Usher syndrome, it is natural to become engulfed in negative feelings, as their hopes for the future seem to be destroyed. 
These feelings can be reinforced by a lack of awareness of the educational and social potential of children with Usher syndrome when they are provided with appropriate support.
Usher syndrome is a recessive condition meaning that both parents have to carry the same faulty gene in order for their child to be affected. Generally carriers of the gene have no signs or symptoms. When parents discover they are carriers of the gene, they may experience a strong sense of guilt, feeling that they are ‘responsible’ for their child’s difficulties. It is important to acknowledge that as a parent you have not “given” your child Usher syndrome. In the vast majority of cases parents are unaware that they carry one of the genes responsible for Usher syndrome and it is only pure coincidence that their partner carries the corresponding gene. 
Knowing that their children are also carriers of the faulty gene, parents may also worry about future generations in the family. 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 deaf young children in 2000 10 per cent were found to have Usher (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
Contact with self-help groups and specialist organisations can help parents work through these feelings, develop strategies to support their child and understand that their child can lead a positive and rewarding life.

Telling your child that they have Usher syndrome

Parents are entitled to decide how and when their child is told about a condition such as Usher syndrome. However, emotions such as guilt, anger and denial can build up and this can affect all the family relationships. This may stop parents from openly discussing Usher syndrome with their child. 
There is no “right” way of telling a child that they have Usher syndrome, but support is available from medical professionals and organisations such as Sense. Professionals at Sense have had considerable experience of working with young people with Usher syndrome and have heard about their experience of being informed, or in some cases not being informed, that they have the condition.
Based on our experience, parents may like to consider the following:  
Children are usually aware that they are different from their peers and not knowing the reason for this can be a source of considerable anxiety.
Providing that information is given sensitively and appropriately, children may prove to be more positive and resilient than the adults around them assume.
A young person who is not told that they have Usher syndrome may choose to learn to drive or work towards a career where good vision is necessary. Often functional vision is not affected until the late teens or early twenties, by which time it might be necessary for the young person to alter or give up their chosen path. Awareness of their situation may help young people to plan for their future.



A diagnosis of Usher syndrome within the family can be extremely challenging for parents, particularly as it is a genetic condition. In among all of the practical considerations relating to education, medical intervention (such as the cochlear implants) and the use of assistive technology, parents need to take time to explore their own feelings and start to think positively about the potential of their child with Usher. Support is always available.
Updated: February 2016
Review due: February 2018

First published: Thursday 4 February 2016
Updated: Monday 16 January 2017