This fact sheet is
aimed at parents who are caring for a child who does not currently have a
It may help to answer
some of the questions you may have; more importantly it will highlight that you
are not alone. There are many other families in a similar situation, all
searching for information that will help them understand their child's
particular symptoms and special needs and ensure that they receive the help,
support and services they need.
When you discover your child has special needs or a disability, your
emotions can be very varied and intense. Parents commonly describe feelings of
isolation, anxiety, sadness, despair, guilt and anger mixed up with an
overwhelming love and protectiveness.
It is natural to want to know the cause of your child's disability.
Without a clear diagnosis you can feel in limbo, trying to come to terms with
what is happening and unsure what the future holds for your child and the rest
of the family.
Many parents describe their feelings of frustration as they are
referred from one specialist to another, desperately seeking a diagnosis.
Finding ways around the system to access information, help and support
can be confusing and parents often worry that their child will be deprived of
appropriate services because they have no "label."
There are no easy solutions and although some families receive a
diagnosis at a later stage, for others, sadly, this does not happen.
The problem with statistics
difficult to know how many of these children do not have a diagnosis. Problems
with identifying and diagnosing very rare conditions, misdiagnosis and late
diagnosis have added to the difficulties of knowing how many children come into
Attempts have been made to estimate numbers but lack of research has
made it impossible to be accurate about figures.
Why did it happen?
There are many
reasons why children are born with special needs.
Although in many
cases it is almost impossible for pediatricians to single out a specific cause,
children will be left with a number of problems that do not fit into any one
condition. Sometimes parents who have a child with an apparently obvious
condition can discover the cause is quite different from what they believed it
Why are some conditions
so hard to diagnose?
There are a number of reasons why making a diagnosis is not easy:
Doctors are now seeing a large number of children with very rare
conditions, which are sometimes difficult to identify.
Many conditions have
similar features and symptoms, which make it difficult to be accurate about a
children will have a number of problems that do not fit into one specific
There are substantial
variations in the degree to which a child may be affected by a disorder or
syndrome, which might add to the problem of making a diagnosis.
features may not appear until later in the child's development resulting in a
late diagnosis or even a change of diagnosis. Identifying a medical professional
that specializes in particular conditions can take time.
Another factor is the
multitude of new syndromes that are being identified. Parents who may once have
been told simply that their child was "mentally handicapped" might now have
different syndromes suggested as possibilities.
This can raise hopes
of a precise diagnosis if only you could find the right expert.
Is it genetic?
Genetics is a branch
of biology concerned with heredity and individual characteristics. Some specific
conditions and rare syndromes have a genetic basis.
There are a variety
of reasons why genetic conditions arise including structural or numerical
changes in chromosomes, changes (or mutations) in a single gene or changes (or
mutations) in a number of genes.
Some conditions tend
to run in families whilst others may occur for the first time in a family
(sporadic. The field of clinical genetics is rapidly advancing and it is now
possible to diagnose a large number of conditions using a variety of testing
If there is evidence
of a specific condition amongst family members, you may be offered genetic
testing for your child. This may help to confirm or rule out whether your
child’s difficulties are the result of a genetic condition. Your GP or
pediatrician will refer you to your nearest Genetics Center.
Exploring all avenues
Some families feel it
is important to explore all avenues when seeking a diagnosis for their child.
One of the greatest
difficulties for parents in this situation is identifying the medical
professional who may be able to advise them on the options available.
Some children will be
under the care of the local hospital and seen at different specialist center.
Children with a number of differing problems may be under the care of more than
one professional worker.
Dealing with the
medical professionals can be frustrating due to limited appointment time,
infrequent outpatient appointments, lack of information and not always having
access to a consultant. It pays to be prepared!
Make a list of the questions you want to ask.
Request a longer appointment time.
Take a friend or family member with you so that they can take notes.
Ask for any written information that may help you to understand your child's
If possible request an appointment with the consultant without your child
being present so that you can have a discussion without being distracted.
your child is under the care of the local pediatrician do ask if there are any
other options available to you. This could include a referral to a specialist
center or specialist pediatrician but you may have to travel long distances to
If you feel strongly
that all avenues to getting a diagnosis have not been explored, do discuss this
with your child's pediatrician. You can ask for a second opinion or change
pediatricians however; it is not guaranteed to provide you with further
information nor a firm diagnosis.
Living without a diagnosis
things that are said or thoughts from those who are dealing with the
frustrations of not having a diagnosis.
-Will future children
be at risk?
This is the most
common concern of parents with undiagnosed children. The amount of risk you are
taking in having another child, could be the deciding factor. Or preparing
yourself of the risk is very important to those wanting more children. If your
child is able to have children will their child be effected? Or if siblings have
children will their children be at risk.
- It is
difficult to access support services.
Reasons may be not knowing where to turn. Finding support in just one area of
your child's differences may leave parents feeling alone because their child has
other differences that the supporters can't relate.
- Unable to get any information about the child's disorder.
Learning everything there is to know about something that affects your child is
very important to many. When unable to do this it may leave some feeling like
they aren't doing everything that they can to support their child.
- Always debating
whether to test or not.
Not knowing what
might occur leaves the doctors either testing too much when it is not necessary
or not enough when it is important. Many times this leaves parents in a very
hard and emotional position. When tests keep coming back negative, parents may
start to refuse some test that may be helpful. Having to put children through
all the negative testing is many times very traumatic for both child and parent.
At least if the test was positive what you put your child through might feel a
little easier when knowing the possibility of a positive outcome that might come
- Parents are looked at as the problem. In some cases Parent
are thought to be the cause of the child's problems. This adds to stress that
some parents are already dealing with. This could cause more difficulty in
dealing with the real issues that the child may be having.
My unique child
Some parents, after several years, do achieve a diagnosis for their child only
to find that the label does not matter anymore. With or without a diagnosis, all
parents of children with disabilities face the same hurdles of battling for
adequate services, and the same heartaches and joys of having a special child.
For many parents the best support comes from other parents in local
multi-disability groups that typically represent a range of physical and
learning disabilities, some with labels and some without, or SWAN (Syndromes
Without A Name). In any gathering of parents of children with mixed disabilities
it can be guaranteed that a few will say: "I did not get a diagnosis until Amy
was 12" or "I have never had a diagnosis for Sammy."
However, they will all talk of the same needs for information and support and
invariably add that their greatest help has come from other parents of children
with special needs.
For parents one of
the most confusing areas is understanding the roles of the various medical
professionals involved in the care of their child.
These are some you may have contact with:
Educational Psychologist works with parents and teachers in assessing the
psychological and educational needs of children with any learning difficulties.
Occupational Therapist will help and advise on special aids and equipment,
which will help in all areas of mobility and daily living
Physiotherapist use exercise and movement will help the child to gain as much
independence as possible.
Dietician/Nutritionist will offer advice and help on special diets and
Speech and Language Therapist Works with children who are experiencing speech
or language problems to enable them to communicate.
Audiologist works with children who have hearing difficulties and can advise
on aids to improve hearing.
Social Worker Provides help and advice as well as emotional support with
Hospitals will vary in the range of conditions they are able to treat. Below is
a list of some of the specialist departments and the functions they cover:
Anesthesiology - sedation
Cardiology - heart and circulation
Dermatology – skin
Endocrinology - any internal organs which produce secretions, such as the
thyroid gland, stomach and liver
ENT- ears, nose and throat
Gastroenterology - esophagus, stomach and intestines
Genetics - look at all features as a whole, to determine a possible cause
Hematology - blood
Immunology - the body's reaction to dealing with bacteria and viruses
Nephrology - kidneys and the urinary tract
Neurology - brain and nervous system
Ophthalmology - eyes
Orthopedics - bones and joints
Psychology - study of behaviors
Respiratory - lungs and associated organs which involve breathing
Rheumatology - joints and muscles
There are a
number of tests and investigations that can be used to help determine the level
to which your child is affected and may help with obtaining a diagnosis.
most common tests and investigations are:
Developmental Tests- During early childhood many children will have a
developmental test. These start from birth and are then followed by regular
routine assessments of height, weight, head circumference, reflexes,
co-ordination, speech, hearing, sight and physical development. These can be the
first indication that a child is not reaching the expected milestones.
Blood Tests- These can be used to help identify many things such as the number
of red and white blood cells, infections, the amount of oxygen in the
bloodstream and the child's blood group.
Chromosome Studies- These can give detailed information of the chromosome
structure. There is an overall analyzes that gives a big picture, then there is
a FISH probes that look at certain areas of certain chromosomes. There are many
research studies checking out many different areas of chromosomes, many times
your geneticist will suggest some research studies.
Computerized Tomography (CT) Scan- This scan gives detailed images of the
inside of the skull and the body.
Magnetic Resonance Imaging (MRI) Scan- Gives a detailed picture of the
internal organs of the body using a computer.
X-rays- Used to give a detailed image of the bone structure of the body
Ultrasound produces a detailed image of organs such as the kidneys, abdomen
and liver onto a screen, which is then recorded on film.
Electroencephalogram (EEG)- Records the electrical activity in the brain.
Origanal Location of this information is Located