12 years ago, our son was born

12 years ago (2006), our son was born. Very quickly.

34 minutes after arriving at the hospital. There was no time to even pull out the birth plan I so thoughtfully prepared.
We thought the bruising was part of that fast birth. We were wrong and the way we found out was frustrating, to say the least.
When our son was born in September 2006, we thought the discoloured marks on his thigh were bruising from the fast birth, and then the pigment, or lack of, across his back/torso, was simply a lack of pigment, “nevus” we were told.

At the six week checkup, when the “bruising” had not gone away, we were referred to a local pediatric dermatologist.
The pediatric dermatologist briefly looked at him and rattled off terminology that we did not understand, but essentially, we heard, that it was nothing to worry about and that he would “grow out of it”.
We climbed back into our vehicle with her words that “he would grow out of it” echoing in our heads and didn’t give it another thought.
Fast forward to when he was he was 3 months old and started showing signs of right hand dominance. Having parented two other children, my instincts told me that this seemed unusual. Babies are symmetrical, not one hand or the other dominant.
At our three month general follow up appointment with our family doctor, we mentioned it and he suggested we bring it up to the dermatologist which was a follow up scheduled within the next few weeks.

Fast forward to that 3 month appointment. That is when we learned that the “birthmark” was actually CMTC, van Lohuizen Syndrome or Capillary Malformation, which can result in a 50% chance of a central nervous system disorder.
So, the little birth mark that we were told he may outgrow, became a bigger concern. A concern with a chance of overgrowth (hypertrophy), glaucoma, temperature regulation, bruising, etc. We didn’t know at the time that his ‘birthmark’ carried an even bigger risk.

That is when we reached out to and joined the Dutch CMTC Association and learned that, at the time, we were one of only 94 families registered with this syndrome.
Landing into this new land, and knowing that there was a support system, that there were other people like us, was incredible. Incredible doesn’t even accurately describe the feeling of forging a path in a new and unknown land and learning that you are not alone. We felt like we had come home.

Our son, at 5 months received his MRI. The results came back with a diagnosis of a brain malformation called Polymicrogyria. We were devastated and confused. I reached out to Lex with the CMTC Association, to ask for his help and a possible second opinion. Lex did not hesitate to connect me with the doctor associated with the Dutch CMTC organization. Dr. Maurice Van Steensel, Dermatologist and Professor, and across the many miles, was willing to look at the MRI images and confirmed the diagnosis and connected through a personal telephone discussion. This service was provided to us at the annual membership fee of 35 euros. We are lucky in Canada to have access to ‘universal health care’, but not always to a second opinion. The opinion and ability to connect with the doctors associated with the CMTC Association was invaluable. It was a source of comfort during a very difficult time.
I was able to take this information to my son’s doctors, and ask questions that were relative and informed, thanks to the support I received through the CMTC Association and the associated doctors.

The doctors/nurses have questioned if I was in fact a nurse. I take that as a compliment, because that is a reflection of my knowledge, and that knowledge has been a cooperative effort with Clark’s care providers and the CMTC Association and the associated supports.

My son today at 12 years would not be where he is today without the support both he, I and our family receive through the CMTC Association.