A couple of months ago we took Cayla to the Genetic Services at Rockingham Hospital to find out a possible genetic cause for her Polymicrogyria (PMG). This involved a consultation with a clinical geneticist and a simple blood test. He looked for evidence of congenital infection which may have caused the changes to her brain during the second trimester. The results showed no exposure to any of the main viruses such as CMV, rubella, herpes simplex and toxoplasmosis. This makes it highly unlikely that a congenital infection was the cause to the PMG. He also tested for abnormalities of Cayla’s chromosomes, a test known as chromosome microarray. This test did not reveal any abnormalities of her chromosomes and therefore rules out being the cause of the PMG.
So even though there is no explanation to why this has happened to her it is good news to have ruled out some of the main causes associated with a poor prognosis. Also the geneticist didn’t find an overt inheritable syndrome which means that the risk for Cayla to pass it on to her children in the future is very low. Great to have had her tested and pleased with the results :) We have now checked all the things that we are or have been worried about since her MRI results back in August last year; hearing and vision, EEG test for possible epilepsy activity and finally genetic testing. All have come back normal.
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.
Today we spent the morning at Princess Margaret Hospital (PMH) as it was time for Cayla’s EEG Test. We had to keep her up until 9pm last night and wake her up at 5am so she would be really tired and hopefully fall asleep during the test. They will get a more accurate reading if the patient is asleep.
Cayla woke up fine at 5am and at 6.30am we were all packed in the car with pillows, blankets and Dora the Explorer on the DVD player. It was pouring down with rain so no playing in the park outside PMH as we had first planned, instead we ran through the rain to the hospital’s cafe and bought coffees for us and juice for the kids. Nathan and Cayla were going crazy in the cafe, playing and running around.. I was really starting to wondering if she would fall asleep as our appointment was in only 45 minutes….. Anyway, we took the lift up to the Neurology department on level 6, registered our arrival and sat down in the waiting area. When they called Cayla’s name Mike took Nathan for a walk as only one parent could come with during the test.
A specially trained technician laid Cayla down on a bed, measured and marked points on her scalp and finally started to place all the electrodes. There was 26 of them, 25 on her head and one on her chest. Cayla was getting sleepy but didn’t want to lay completely still so the nurse called for backup. After about 15 minutes she was all bandaged up and it was time to give her a bottle of milk, turn the lights down and wait for her to fall asleep. It all went really well and after only about 20 minutes Cayla was fast asleep and I was struggling to keep my own eyes open as well….! When the test was nearly finished the technician used a special lamp with flashing light in front of Cayla’s eyes to see her brain’s response.
EEG (electroencephalogram) shows electrical activity of the brain called the brainwaves. The pattern of these brainwaves changes with age. The EEG may detect epileptiform discharges in people with epilepsy and sometimes in people without epilepsy. Apparently many of the childhood epilepsies have characteristic epileptic activity on the EEG that may help make a specific diagnosis of the epilepsy syndrome and may help in deciding treatment. Cayla has never had any seizures so finger’s cross that she doesn’t have epilepsy or will develop it in the future. The EEG test today will be interpreted by a Neurologist and the results will be sent to our pediatrician Dr Kate Langdon within two weeks. I’ll keep you posted :)
I have been searching the net for more information about Cayla’s condition both in English and Swedish. I know that I shouldn’t read stuff online but I just couldn’t help myself. So I know that it’s a bit unusual and I know that these extra folds are positioned on the outer cortex of the brain which controls movement in our bodies hence Cayla’s cerebral palsy.
But I have also read that it could be genetica, talking about a chromosome called Xq28, but more often a mutation. It does however sound like Cayla will now have this gene and will therefore be able to pass this on to her children in the future. A scary bit of information is that a lot of children with this condition will develop epilepsy at 4-12 years of age. But this might only be a risk for the more severe cases what do I know? I do however want to talk to someone who might be able to give us some thoughts on this so I have contacted Dr Kate Langdon for an appointment in due course.
I have also booked Cayla in with a speech pathologist from Kids are Kids as of recommendation from a friend of mine. She is prompt trained which is a technic that I think Cayla would benefit from so we’ll see how that goes. We are seeing her in a couple of weeks.
The same day as Cayla got her foot splints (AFO’S) at TCCP we had an appointment with Dr Langdon at PMH to go through the MRI scan results. I was pretty nervous but when we got to there both Mike and I were more upset about the new AFO’s than the MRI results.. I know it is what it is, not much we can do about it… but it still sucks…
It was lovely to see Kate again, she is such a great paediatrican! She skimmed through her notes and told us about the findings of the scan. Sometime between week 12-16 in the vomb Cayla has developed extra folding on both sides of her brain and apperantely it’s better to have them on both sides than only one side. So no lack of oxygen at birth, bleeding, stroke, scaring etc but these extra folds… It’s called “Bilateral congenital perisylvian microgyria (CBPP) and Kate told us that it is a pretty rare condition. She had printed an article about it but told us not to compare Cayla with those kids as they were a lot more severe. What’s interesting is that many kids with this also have pseudo bulbar palsy which is ongoing difficulty with multiple bulbar functions such as speech, feeding, saliva control. Cayla is drooling a bit still and her speech is delayed so there is the answer to that. Kate said once again that they probably don’t know much about kids with CBPP that is on the milder end of the scale such as Cayla. She wasn’t particularly worried about Cayla and still thinks that she is a very typical 2.5 year old which for us is great to hear!
For us, it has been great to have an MRI scan done, to find out the organic reason for Cayla’s cerebral palsy and speech delay. I was very sceptical a couple of months ago and really didn’t care but I can now see the value of having this information. Now we know that most of our efforts and money/funds will be put towards improving Cayla’s speech as this is clearly affected in her case. I’m glad that I had all of this explained to me before the MRI scan in such a way that I was actually looking forward to the results even thought it is of course scary at the same time. I also now know that it wasn’t my fault… yeah, I was beating myself up for several months thinking I had totally done this to my little girl..
Each to there own but I would definitely recommend having a scan done. Just saying.. :)