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I N F O R M A T I O N

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The Emotional Impact of Diagnosis

Written by Rett UK
Initial Responses
If you have recently found out that your daughter or son has Rett syndrome you may still
be reeling from the shock, or just feel numb, and find the news hard to take in. All your
dreams, hopes and expectations for the future of your child may seem to fade or disappear
altogether. You may feel very anxious, confused and uncertain about what lies ahead, or
have a sense of panic or anger. Whatever your feelings, they are completely natural, and
are a part of a normal and understandable response to a diagnosis. Although it is very
painful, these feelings are usually the start of the process as you realise that your daughter
or son has special needs.
At this point in time, you may or may not know anything about Rett syndrome. You may
have just received a letter or telephone call confirming the diagnosis, but no more
information than that. Alternatively, you may have been on the internet to find out as much
as you can, and feel frightened about what you have read.
A diagnosis of Rett syndrome has an impact on the whole family parents, siblings,
grandparents, uncles, aunts and other relatives. You may feel shocked, isolated and
confused about what to tell others - or not want to talk at all. You may feel frightened about
what the future will hold, especially as there is a variation of ability among people with Rett
syndrome. It is likely that you will experience a whole range of different feelings from
anger, guilt, resentment and exhaustion to numbness or anxiety.
You may be asking 'why me? Why did this happen to us; why is my child different? What
caused it?' These are questions which are always hard to ask or to find an answer to. You
may believe you are somehow responsible for what happened. You may find yourselves
questioning your behaviour did you eat/drink the 'right things and so on. At times like
these it is important to remember that Rett syndrome is a genetic disorder and not in any
way related to what you may or may not have done.

What is Rett Syndrome?

Rett Syndrome is a neurological disorder that affects mainly females around one in every
10,000 females. It is the most common genetic cause of profound and multiple learning
disabilities in females. Although present at birth, it becomes more evident during the
second year. It usually leaves the person with high individual support needs throughout
their lives. A large proportion of people who have Rett syndrome have a mutation, or fault,
on the MECP2 gene on the X chromosome.
Since this gene was identified in 1999 as a key player in the cause of Rett syndrome, more is
now known about the variation of ability amongst those affected. It is important to keep in
mind that professionals cant always tell you, or predict how your daughter or son will
develop. Most of us want some kind of certainty about how things might turn out, and it
can be very unsettling and frustrating when this doesnt happen.

Some Aspects of the Impact of a Diagnosis of Rett Syndrome

Facing the reality of a diagnosis is a tremendous shock and the prospect of looking after a
child who may need a high level of care throughout their life can be overwhelming.

It's really important at this time to be around people who can support you, both practically
and emotionally. It may be that you have little or no family around to support you and
perhaps there are some friends or neighbours you can draw on at difficult times. Whether
there is someone there or not, it can feel incredibly lonely and isolating to have a diagnosis.
It is important to know that however alone you feel you are, there is help and support out
there, either from us at RSAUK or from community services.
It can be demanding managing the arrangements to obtain support from social and health
care authorities, from friends and family and from each other. The care routine at home may
take a while to get use to, and it may not be easy to decide who will be the primary carer.
Each parent will learn to cope in their own way and will make the arrangements they feel
most able to sustain. If you are married or in a relationship you may find there is conflict
between you. Under the circumstances this is natural, because a parent or carers situation
is a stressful one. It might be more worrying if no conflict was being experienced as this
might indicate emotions were being suppressed. However much you love your child, the
demands of caring can reduce the freedom of parents or carers and influences future
choices. It can be helpful to openly acknowledge this and talk it through with each other, or
with a trusted friend or counsellor.
You may find there are still many people, including professionals, who have not heard of
Rett syndrome, and this may increase any sense of isolation you have. Many parents
describe how helpful it is to talk to other parents who have been through similar
experiences. Contact with the Support Team at the Rett Syndrome Association UK also
means there is someone who will listen to you, and who can put you in touch with other
families and carers who understand the practical, social and emotional issues in caring for
someone with Rett syndrome. Being able to talk things through is an opportunity to receive
support, share experiences and useful information. The Support Team can also tell you
about therapies and research information that will help you maintain the best care possible,
and support you in trying to access other services.
Receiving a diagnosis is a profoundly painful experience, yet knowing your child has Rett
syndrome also means that the involvement of professionals can be focussed in this context.
This will give your daughter or son the maximum chance of developing and maintaining his
or her skills.
Our Support Team aim to be as proactive as possible so that there is some structured
support in place during particularly difficult periods. They also enable families and carers to
have personal contact with others who have been in a similar situation. RSAUK hope that
everyone who contacts us can be supported in whatever way they need, at the time that is
right for them.
The Support Team can be contacted on there direct line 01582 798911 or by e-mail
support@rettuk.org