How to get a diagnosis

It is difficult to get a diagnosis.  There will be a variety of reasons for this ranging from people believing it is just the parents parenting technique, the fact that the healthcare professional may had never heard of antiepileptic medications causing a syndrome or effects, to the most common of all, the person getting diagnosed with their secondary condition(s).

What is meant by secondary conditions is all the difficulties or abnormalities that are linked with the syndrome.  The primary is the syndrome.  To give an example is when a person is diagnosed with Foetal Valproate Syndrome that is their primary.  The underlying conditions they could have might be dysmorphic facial features, auditory processing difficulties, eyesight problems, fine motor and gross motor problems, and characteristics of Autism Spectrum Disorder.  These underlying conditions are called secondary conditions.

You may well be sitting there reading this and thinking why should the person get the primary diagnosis.  The reason why the child (or adult) should get the primary diagnosis is that the family and parents can begin to get more of an understanding around the persons diagnosis and what this could mean for them in the future.  Having a diagnosis can also open up more opportunities for support.  The earlier the supports are put into place the better the outcome is for the person.

The parent or caregiver may not be ready to go down the path of getting a diagnosis, however when they are be there to support them.  If they are not sure what to do then the recommendation would be to get them to talk to their GP about this.  Their GP will be able to refer them to the relevant specialist that is required.  These specialists are usually a paediatrician, and a geneticist.  If they already have a paediatrician then they can bring it up with them.  If the person is no longer of paediatric age then a geneticist will be probably be where the GP will refer them.

The paediatrician will take a detailed history of what the difficulties or disabilities are with the child, and their development, which builds a bigger picture.  This may include asking for schools (and families) to do some reports or assessments prior to their visit.  During this visit it is so important to remember that the paediatrician knows that mum was on an antiepileptic medicine during pregnancy.  

The geneticist will take a history of both the mum and dad’s sides of the family, looking to see if there is a presence of dysmorphic facial features, send the person for a blood test to see if there are any genetic syndromes at play, and take a good history of what has been going on in the persons life.  It is important during this visit that the geneticist knows that mum was on an antiepileptic medicine during pregnancy.

One of the things that the geneticist will probably ask for is photos of the person when they were a baby and over the years, as well as photos of the mum and dad and any other children.  They are doing this to look at the facial features.

Both the paediatrician and geneticist are developing a fuller understanding of the person and what could be going on.  They may diagnose the person has been affected by an antiepileptic medicine, or has the syndrome.  If they say the antiepileptic medicine was not the cause of the persons affects, but you or the parents are not convinced the parents can ask for a second opinion.