We have been to see Dr Simon Williams at Princess Margaret Hospital (PMH). He is one of the neurologists at PMH and I have only heard very positive things about
him so it was very exciting to finally meet him. I don’t actually know why we had an appointment with him but suspect that our pediatrician Dr Kate Langdon had organised it quite some time ago? I thought we would have met him last year for Cayla’s epilepsy test but he wasn’t there to do the test. This man seems to be quite busy and difficult to get an appointment with so we definitely didn’t want to miss this opportunity and it turned out to be a great and very informative meeting.
We mainly talked about PMG which means polymicrogyria. This is the name for the small extra folds that Cayla has on her brain which are also causing her cerebral palsy. It’s a rare neuronal migration disorder in which neurons fail to migrate normally up into the brain from where they are born resulting in structurally abnormal cerebral hemispheres. The name Polymicrogyria broken down describes its characteristics: Poly (many) micro (small) gyria (folds) in the surface of the brain. Dr Williams described it like 6-layers of scaffolding in which each cell had to go through the different levels to create its own layer. Layer 2 has to go through layer 1 to find its place and layer 3 has to go through layer 1 and 2 to the right place and so on. This is a process that happens when the surface of the brain developes in the 2nd trimester and it doesn’t need much at all to disturbed this delicate process. In most cases the cause of the condition is unknown but it can be due to certain infections or a lack of oxygen to the fetus.
Researchers are investigating the genetic causes of polymicrogyria and we have recently sent of a blood test to the Genetic Lab in Rockingham to find out what could have caused the PMG in Cayla’s case. When an individual is the only affected person in the family, it can be difficult to determine the cause and not that it matters that much to us anyway. However, it will be valuable to know whether Cayla will be able to pass this on to her children in the future. This test takes up to 6 months so will let you know more about that as soon as we have the results back.
Dr Williams also said that because her cerebral palsy is caused by PMG and
that our brains are so complex it might actually get better in the future. A brain can
create new neurological pathways and often finds other ways to make up for the damaged part so who really knows what our brains are fully capable of doing and restoring. I don’t hold my hopes up that Cayla’s spasticity in her leg is going to disappear in the future but that would of course be fantastic.
Though if Cayla’s PMG didn’t also cause spasticity in her leg she wouldn’t have had an MRI or a diagnose so early on. She would be a child with speech delay/difficulty and we would have to pay to take her to private speech pathology sessions and for equipment such as the Vantage Lite, Ipad and so on. She probably wouldn’t be able to go to a mainstream school as she wouldn’t be entitled to have an Education Assistant (EA). All of these things are available to us (free of charge) as Cayla has a diagnose of cerebral palsy.
Dr Williams wasn’t particularly worried about her speech and that both speech and saliva control will definitely improve with training and increased awareness as she gets older. He thought that she looks like a very happy 3-year old presenting age appropriate behaviour without doing a thorough assessment. Therefore no need to see him on a regular basis but we will more than likely see him when Cayla gets further up on the list for Botox at PMH which should happen very soon.