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Donna talks about her experiences of getting a diagnosis
for her two children with autism.
There are a number of reasons why getting a diagnosis can be
Because of improvements in science and medicine, there may be a
belief that doctors can always find out why something has happened
to your child. Sometimes this isn't the case and this can be
You can discuss your concerns about your child's development
with your health visitor. You can also discuss your concerns about
your child with your general practitioner (GP).
Your GP may refer your child to a paediatrician, someone who
specialises in conditions affecting children and young people. They
in turn may refer your child to a consultant who specialises in a
particular area of medicine. If your child has lots of symptoms,
they might be referred to different specialists to see if any of
them can make a diagnosis.
professionals may be involved in assessing your child and how
well they can cope with certain activities. For example, speech and
language therapists (SALTs), physiotherapists and occupational
Visit our common concerns section to find out who
can help if your child has difficulties with:
You may suspect a particular type of condition, so you could ask
for a referral to a specialist service (for example for metabolic
If you want to do this, it is helpful to take a list of all the
ways your child is affected along to the appointment to explain why
the referral is needed. Support groups for the condition
you have in mind may be able to help you find information and the
right specialists to make a diagnosis.
If you think your child may benefit from a particular assessment
or testing, then discuss this with your medical professional. If
you find reliable evidence to support this bring a copy a long to
your appointment to show the doctor.
Visiting a genetics centre
If it is suspected that the cause of your child's difficulties
is genetic, then your GP or paediatrician may refer to a genetics
service, which is based at a regional genetics centre. Often
children with a genetic condition will have distinctive facial
features (also called dysmorphic features).
Ask your GP or paediatrician for a referral to a genetics centre
if you think your child has a genetic problem, or if you think your
child has dysmorphic features.
We talked to Adam Shaw, Consultant in Clinical Genetics at Guy's
Hospital and he answered common questions that parents have when
visiting a genetic service.
We've split this into three short podcasts:
If you feel strongly that all ways of getting a diagnosis have
not been explored, you may be able to get a second opinion.
You can go back to your GP and ask them to refer you to a
different specialist. Try to avoid being confrontational, but be
firm. Take along the list of things your child finds difficult and
also explain the reason you are asking for the referral, giving
examples if possible.
If you would like a second opinion after receiving advice from
your GP, you can ask them to refer you to another GP at the same,
or a different practice.
While most parents say they would like a diagnosis, over time
some find that getting a 'name' is not as important as it was at
first. For these parents, the most important thing is ensuring that
their child's day-to-day needs are met.
Others, however, want a diagnosis to help make sure their child
has the best possible support and treatment. A lot of parents fear
that their child will not be able to get the support they need
without a firm diagnosis.
Your child is entitled to support for their needs whether they
have a diagnosis or not. The support they receive should be based
on their additional needs and not the name of a condition. See our
page on support
when your child does not have a diagnosis.