Genetics

OKAY EVERYONE: We had our appointment today with the Geneticist concerning Emily's blood results. And below is everything we talked about. It's alot, so take your time! If you have any questions, feel free to ask...I'm still learning about it all! But we do have SOME answers at least! Next up...the Pediatric Neurosurgeon!

We all have multiple strands of chromosomes. Each chromosome contains two identical strands; one strand from mom and one strand from dad. Each strand contains a bunch of genes. With Emily...her chromsome 7 pair is off. She has one good strand and the other strand is missing 41 genes. This is the "chunk" of chromosome 7 the doctor was talking about.

Now, everyone has roughly the same things dormant in our DNA...we all have genes for Down Syndrome or Cystic Phybrosis...it's when our pairs aren't right that those disorders surface. Some require both genes to be present (to be dormant), sometimes only one gene needs to be "good"...it's usually when both of those genes are missing...is there something wrong. However, in Emily's case, that's not so. There is one particular disease called CEREBRAL CAVERNOUS MALFORMATION or CCM2. This particular disease requires two good genes (one from each strand in Chromosome 7) but Emily is missing one of those genes and so...tada...she has Cerebral Cavernous Malformation.

So what does this mean? This disease causes blockage in blood vessels, slow blood flow throught the affected area and strokes...but in adults. The problem here is that gene research is still fairly new, not all the genes have been broken down and figuered out...what's more...gene research in children is almost non-existent. The doctor only found ONE article about this disease in children, and it was like a teenager or something. There is so little research because it's rare that a child (let alone an infant) needs their genes tested (outside of cases like down syndrome) so Cerebral Cavernous Malformation is even rarer...does that all make sense?

So what next? She is giving our file to the Pediatric Neurosurgeon and requesting a consult for me to speak with him because here is what she's thinking... When adults have strokes and they do an MRI to see how or where it started it can be tricky because many times these blocked blood vessels look like...cysts! So it very well could be that Emily's "cyst" is actually early onset CCM2. But that's for the Neurosurgeon to decide...he may want another MRI to check again! Ugh! If it IS CCM2 than they will need to do surgery to release the blood vessels and get it flowing again. If it's NOT, than well...just another thing wrong! Wow...that's alot. Please feel free to process that and ask questions...I'm SURE I forgot something!

Thanks everyone...and of course...continued prayer would be wonderful!!!