What is Microcephaly?

What is Microcephaly?

The honest answer is....I have no idea.  There is just not a lot of great information out there, at least that I have found.  I am still in the process of learning about and figuring out what we are dealing with, so forgive me if the information I pass on is incomplete or even inaccurate.  I'm sure 10 years from now I will be able to tell you all about microcephaly, but for now I'm pouring over one technical medical site after another and trying to interpret what I read and what I'm being told.

"Microcephaly" means "small head."  As I have come to understand, microcephaly is associated with many serious conditions, but typically it is a side effect of these conditions.  All by itself, Microcephaly is highly uncommon, and this is the form that Dylan has. His diagnosis is Primary Autosomal Recessive Microcephaly, which means it was present at birth, genetic, and caused by a recessive mutated gene that both Brian and I are carriers of.  Apparently different populations have a higher occurrence of this mutated gene (such as Middle Eastern and Asian), but as I mentioned before the incidence among Caucasians is as low as one in a million.  With a recessive genetic disorder, both parents have to be carriers.  Brian and I are as Caucasian as you can get and have no known family history of Microcephaly, so the odds of us both carrying this mutated gene, finding each other, and making babies together is pretty low!

We found out about Dylan's diagnosis on June 19th, 2013.  He was 2 1/2 weeks old.  We knew from birth that something was "wrong" with him (more on that later), but we hadn't been given an explanation yet.  Dr. Anadiotis, a geneticist at Randall Children's Hospital, had the unpleasant task of delivering the news to Brian and me.  We were, as you can imagine, devastated. Dylan had been tested for a whole host of things in the weeks prior to our appointment with Dr. Anadiotis, and everything kept coming back negative.  We were getting more and more optimistic as we continued to be told by doctors that our baby may just have a small head without any of the associated conditions.

Dr. Anadiotis explained to us that Dylan's small head also means that he has a small brain.  He had an MRI when he was just a few days old, which confirmed that his brain "architecture" was all normal (meaning he had the proper ridges, etc), but the size is much smaller than it should be.  He told us that this means Dylan will have "moderate to severe intellectual disabilities."  Maybe he will struggle to get a C on his math tests...or maybe he will struggle to ever speak in full sentences or write his name - we'll just have to wait and see.  He shouldn't have any major motor problems, but we can expect him to be late achieving some of his development milestones.

Dylan's head will always be small, which will give him a "different" appearance.  Again, the degree of this is unknown.  This is one of the hardest parts for me to accept.  Kids can be so mean, and the idea that my baby will be bullied or left out because of his appearance is devastating.  

And that's about all we know at this point.

The theme of what we are being told is to just wait and see how Dylan develops.  I feel like it is important for me personally to research as much as I can and to read about other families who have raised children with Microcephaly, just so that I have an idea of what types of challenges we can expect in the future.  However, I am fully aware that given the nature of this disorder, Dylan will NOT follow the same path of development as anything I am reading about or any other microcephalic children that we learn about.  It is so important for us to focus on Dylan as an individual right now, and rejoice in the fact that he is an amazing 7 week old baby boy who will eventually grow into a remarkable young man, no matter what challenges or delays he faces along the way