update

We have heard from the geneticist and thank goodness Richie does not have VCFS. His 22nd chromisome is fine. We are now waiting for a microarray analysis. I'm not sure what microarray analysis is as there is not a wikipedia page on it. My limited understanding is that it allows his doctors to look at his unique human genome. Perhaps they will take a close look at the areas that are linked to his special features.

Richie is 7.5 years old and is measuring in the 10th percentile for height and the 3rd for weight. This is great as there were many years when he was markedly below the 3rd percentile. He visited the geneticist when he was 2 years 3 months and he measured average for a 9 month old (20 lbs/9.2kg). I remember clearly when all my worries centered around growth.

Richie is school aged now and all of the worries that surrounded growth have shifted to learning. I volunteered in his class this morning as they were making "stone soup". Richie has made many friends and he was eager to try all of the vegetables (he even tried raw onions and garlic). It was obvious that he is the most behind in his class. He tries hard and he attempts writing all of his words. His fine motor is pretty low so reading what he has tried so hard to write is a bit of a challenge.

That's all for now. I will update after I visit with his pediatrician next week.

Richie and Mackay in Vancouver

Velo-Cardio-Facial Sydrome?

I have two sons who are 7 and 9 years old. My youngest son has struggled most of his life. Very early on he literally stopped eating. My husband and I watched in despair as he moved from the high percentiles on the growth charts to way off of them. During this time Richie was what you'd call colicky. It obviously wasn't colic as it started when he was 2 weeks old and lasted for 3 years. It was a long hard three years and and at the end of it Richie was finally on a growth curve he could call his own. No, it wasn't on the charts but it was a curve as opposed to steps.

During the early years we also began to notice that he wasn't developing like his older brother. He did manage to meet all of his milestone but always at the tail end of normal. He had many assessments and appointments with specialist and they all eventually sent us on our way as Richie was in the normal range.

At the end of kindergarten Richie had a full psych assessment. His IQ came back and you guessed it, low normal. This news really threw me. At this point I knew Richie was going to struggle a lot in this world. I was the parent who was trying to get real. In hindsight I think it threw me into a bit of a depression. The thing is that a mother has so much empathy for her children and I was so worried about how he was going to fare in this world. My husband is the optimist and he never believed the assessments. He had good reason not to as Richie has so many strengths and cool attributes that it is really difficult to put it all together.

Richie had his annual checkup in June and his pediatrician thought it would be a good idea for him to have a follow up appointment with the geneticist that he saw when he was two years old. Dr. Lowry was kind, gentle and knowledgeable. During his assessment he discovered Richie has a sub-mucous cleft palate. His guess is that Richie has VCFS. I had put all of Richie's symptom's into google a year ago and I had come across this chromosomal syndrome. I thought that it described my son really well but I knew that he had a FISH test a long time ago. I assumed incorrectly that there was only one kind on fish test and therefore Richie could not have it. Richie was tested again on Tuesday and it takes a few months to get the results back. Of course we want to stay optimistic, maybe the results will come back negative but I have been his mother for 7 and a half years and in my heart I know that this is it.

This potential diagnosis will start a whole new battery of emotions and tests for our little guy (he is still just 40 pounds). I can't believe how hard it is. I'd like to use this blog to let my emotions out as I am not ready to talk to friends at this point. I am very fragile right now and talking makes me cry. I know I'll get to a better place of acceptance but right now it just sucks.