MY CHILD IS UNDIAGNOSED

This information is aimed at parents who are caring for a child who does not currently have a diagnosis.

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, 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

It is 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 this category.
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. These include:
Difficulties during the pregnancy including infections in the mother
prematurely environmental problems Genetic conditions Asphyxia or trauma during or shortly after the birth.

Although in many cases it is almost impossible for paediatricians 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 to be.

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 diagnosis.

Some children will have a number of problems that do not fit into one specific condition 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.

Certain identifying 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 who specialises 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 methods available. 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 paediatrician will refer you to your nearest Regional Genetics Centre.

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 whilst others will be seen at a specialist centre. 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 specific problems. If possible request an appointment with the consultant without your child being present so that you can have a discussion without being distracted.

If your child is under the care of the local paediatrician do ask if there are any other options available to you. This could include a referral to a specialist centre or specialist paediatrician but you may have to travel long distances to other centres.

If you feel strongly that all avenues to getting a diagnosis have not been explored, do discuss this with your child’s paediatrician. Parents have no legal right to a second opinion but they can request one. It is not, however, guaranteed to provide you with further information nor a firm diagnosis.