1. School Years
The NDCS Magazine • Summer 200920
It’s been a devastating journey for the Fassler family
since Shannon’s diagnosis of Usher syndrome. But just
as shocking as the condition is the lack of information
out there for parents who find themselves in Wendy’s
situation.
“It was so different to when Shannon was diagnosed
with a hearing loss,” Wendy remembers. “Back then I
turned to NDCS and had access to fantastic information
within hours. There was a local group to join, other
families to meet, and other children Shannon could get to
know. With Usher it’s been very different.”
Usher syndrome was only recognised in 1998 and it’s
very common for doctors to have no knowledge about the
condition, which means diagnosis is a drawn-out arduous
process for parents, with nowhere to turn for guidance
once the prognosis is confirmed.
“When Shannon was diagnosed I wasn’t offered any
information. I was the one passing on to the eye doctor
facts I’d read about in the NDCS publication Vision Care
for your Deaf Child and on the Internet,” says Wendy.
It was Wendy who initially picked up on Shannon’s
deafness as a toddler. “She was loud, clumsy and
different to my other two children,” says Wendy. “By
three years old it was obvious something was amiss:
some speech sounds were immature and she was so
naughty and didn’t listen to a word I said.”
Wendy took Shannon to their health visitor clinic and
a couple of months later she was diagnosed as
Usher
syndrome
Twelve-year-old Shannon Fassler’s hearing is deteriorating. In 2007, she
was diagnosed with a little-known condition which means she is also
losing her vision. Shannon’s mum Wendy tells Gabrielle Nagle the
moving story.
moderately deaf. Hearing aids were fitted and Wendy
worked with Shannon to encourage her hearing.
“Listening doesn’t just happen when you put the
hearing aids in. You have to teach it. I taught Shannon to
listen – find the source and identify what was making the
sound. It was hard going but it paid off.”
Shannon had always found night-time a problem,
which was put down to her not being able to lipread well
in the semi-dark, but night blindness is a major symptom
of Usher. She was taken for a routine field vision test with
other deaf children in year 6 and failed. Wendy followed
it up, taking Shannon for further testing and by Christmas
2007 they finally received a diagnosis.
“The teacher of the deaf, teaching staff, social
services and our GP weren’t really sure what to do with
us. We were their ‘first’. We saw a specialist in January
2008 and although they were very good at answering my
questions, offering advice and arranging low vision
checks, there was no information specifically about
Usher.”
Wendy reached out to the adult Usher community in
the UK and USA via the Internet, and also sought help
and advice from charities Sense and Deaf Blind UK.
“Although many local authorities now have sensory
services, they seem to offer information on hearing
impairment or visual impairment only. But deaf-blind is a
dual sensory impairment,” Wendy continues.
Gabrielle Nagle
NDCS
Technology
Services
Assistant

2. Spreading the word
Wendy is very active in the deaf community and has been
working for years with her local deaf children’s society
empowering other families of deaf children to access the
resources available to them. She’s now fighting for the
much-needed support that’s required for children with
Usher, and encourages other families she meets to do the
same.
“Thanks to my years of experience as a parent of a
deaf child and as someone who chose to stay well
informed via NDCS publications and information days, I
sought out lots of information myself and was able to ask
about glasses, low vision
aids, environmental
aids, mobility,
registration with
social services,
benefits, education
choices etc. For
others unable to
do this, there’s
nothing offered to
them at
diagnosis,” adds a
concerned Wendy.
21
What needs to be done?
As well as a lack of knowledge of Usher syndrome within
the medical field, Wendy finds that many families are
also unaware of the symptoms of Usher and what steps
would need to be taken if their child were diagnosed.
“Families of deaf children need educating, as many
are still unaware that Usher exists and that it could affect
their child when they reach puberty. Finding out about
Usher earlier would help many families prepare their
child for the future,” Wendy warns.
“The symptoms parents need to be aware of in their
children are: night blindness, a dislike of dim light and
bright light: sunshine can hurt their eyes. Also balance
problems: clumsiness, bumps and bruises. If you’re
concerned about your child’s hearing and/or vision you
need to get it checked out. Contacting Sense and Deaf
Blind UK after the initial diagnosis was the hardest thing
I’ve ever done, but the fact is the sooner you know, the
sooner you can ensure that your child gets access to
everything available to them.
“Lack of information amongst professionals meant
months of fighting for us to get amendments to
Shannon’s Statements of SEN, to gain access to services
and equipment, to get regular Braille and Mobility
lessons. Local authorities can use information about
Usher as a planning tool to ensure children and young
people are better provided for and able to access
services more easily as their needs change.”
What does the future hold for Shannon
Shannon’s hearing has slowly deteriorated over the years
while the support she needs in
school has risen. She’s now
profoundly deaf and attends Mary
Hare school.
“Shannon loves the deaf-aware
support and having so many deaf
friends, although again there is
minimal awareness of Usher and her
visual support needs create
difficulties. I teach her to use her
cane, her visual memory and other
senses just as I taught her to learn to
listen. She’s amazing. And of course
it’s important to remember that Usher
isn’t the end of the world: it’s just a
different world,” adds Wendy.
The NDCS publication Vision care for
your deaf child is available from the
NDCS Freephone Helpline by calling
0808 800 8880 or emailing:
helpline@ndcs.org.uk
It contains information about Usher
syndrome and contact details of other
helpful organisations including Sense.
What is Usher syndrome?
Usher syndrome is a genetic condition which causes
deafness from birth and sight loss over a number of
years. This sight loss often begins in late childhood and
is caused by an eye condition known as Retinitis
Pigmentosa.
Usher syndrome can affect up to 6 per cent of children
born with a hearing loss and is inherited when both
parents carry an autosomal recessive gene. There are
three types of Usher:
Type 1 causes profound deafness and poor balance from
birth. Visual problems may be noticed before the age of
ten. This can result in late development.
Type 2 causes moderate to severe hearing loss from
birth, and balance is unaffected. Visual impairment may
be noticed during their teens.
Type 3 is the least common. The child may be born
hearing or with partial hearing loss and develops visual
impairment roughly at the same time as their hearing
deteriorates in early adulthood. Balance is also affected.
Blood tests can often, but not always, detect the
Usher gene mutation in young children. Eye checks like
visual field testing are used on older deaf children. The
ophthalmologist can then use different forms of electrical
testing to confirm and diagnosis the problem.
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Summer 2009 • The NDCS Magazine