Monday, January 28, 2013

There is so much to tell!  Cameron is 3 years, 3 months old and he is a smart boy!  Although he cannot form words properly, he can talk up a storm, he can read his favorite stories back to us (I believe from memory) and now and then he says a clear entire word - when this happens it is so amazing!  He can repeat lots of things that we say to him, even though sometimes it is only us that can understand what he says.  :)

Cam has been said to have PTEN Macrocephaly Autism:  a mutation of his PTEN gene, which is from what I understand the tumor suppressor gene.  To me, this means that without proper function of the gene, cells can grow quickly - both good cells and bad cells.   The bad cells I can think of would be cancerous tumors.  Beginning at age 15, he will undergo regular cancer screenings to monitor his thyroid and parts of his male "plumbing".  Cam is scheduled for a tonsil- and adenoid-ectomy on Feb 14, 2013.  There are other less pertinent reasons but the main reason is so that the "nubbin" on one of his tonsils may be sent to pathology to make sure there are no bad or unwanted cells growing in it.  He will also undergo an "Examination Under Anesthetic" so that they can check the rest of his airway to ensure there are no tumours present...  Our geneticist states that this mutation is similar to a PTEN mutation that may be found in patients with Cowden's Syndrome - from what I read though, this is usually an inherited condition that is present in family-lines.  In Cam's case this is a de novo mutation - it did not come from either of his parents and as far as we know it is not present in ancestry.

The macrocephaly part of the "title" that is given to Cam's condition simply means enlarged head.  Yes, Cam has a big head, it's true!  One of the nurses on the day of his birth said something like, "that's the biggest head I have ever seen on a newborn!".  About a year ago the measurement of his head (I forget exact figures) was only 1cm smaller then mine (and I am his dad).

The autism part of the title - well no-one will look at him more thoroughly for autism since he seems to be social, interacts with other kids and adults and for the most part does not display normal signs of autism.  He does however sport "characteristics of autism" such as arm-flapping when excited or happy, staring at straight edges like the edge of a table, or straight lines of trees for instance.

Low muscle tone is very evident with Cameron:  drooling, hard to chew harder foods, walking (he is going to be braced soon to the hip), forming proper words, climbing stairs, stepping over things.

We want to continue to post - afraid the timeline is not going to be specific though, but this is informal, right?  Please feel free to comment, share your experiences and please check back often.

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