Genetics Update

What a week!  Between Dylan and myself, I had a total of FIVE doctors appointments in four days, including the surgery yesterday to remove the Melanoma tumor from my leg.  It went well, and surprisingly it does not hurt very bad...yet.  I was awake during the surgery, with just local numbing where the doc was cutting.  I didn't watch (GROSS!), but when she was all done stitching me up, I sat up to take a look.  I was amazed to see a THREE INCH cut across the side of my knee!  It was so much bigger than I was expecting.  When I reacted to how huge it was, the nurse asked if I wanted to see what they removed.  I was curious, so she grabbed the specimen jar and, seriously, the chunk they removed was the size of a ping pong ball!  They weren't going to mess around with accidentally leaving any cancerous tissue behind, and I'm A-OKAY with that.  They sent it off to a lab to confirm that they got it all.  I should hear back early next week, but the doc was pretty confident.  She did re-remind me of how lucky I was to have caught it when I did...the repercussions of missing a malignant melanoma tumor are pretty devastating.

Today's appointment was with Dr. Anadiotis, the geneticist that we first saw back on June 19th.  It was at that appointment, almost four months ago, that we were first told that Dylan had Microcephaly.  Just walking across the sky bridge and into Randall Children's Hospital, where his office is located, brought back a whole host of emotions.  That was one of the hardest hours I've ever had to sit through, and I will never forget how heartbroken I felt as he told us that our baby Dylan would have intellectual disabilities.

When we first met with Dr. Anadiotis, we were still under the impression that Dylan's brain "architecture" was formed properly, which led us to believe he fit into a specific diagnostic category (Primary Autosomal Recessive Microcephaly).  We started the process of genetic testing through the University of Chicago, looking specifically at the genes that could cause this Autosomal Recessive form of Microcephaly.  But on August 7th, when we met with a Pediatric Neurologist and found out that Dylan's brain was actually malformed, that diagnosis was no longer applicable.  We weren't at all surprised when that first round of genetic tests came back negative.  He still has Microcephaly (which basically means a really small head), but we don't yet know what caused it or what it will mean for his future.  We had hoped that Dr. A. could help us determine other things we could test for, looking specifically at disorders that follow the pattern that we are seeing in Dylan.

It was a bit disappointing when he, like so many specialists before him, shrugged his shoulders and told us he had no idea what could have caused Dylan's head and brain to grow the way they did, or what we can expect in the way of future development.

So, our next step is to see the infamous Dr. Dobyns at Seattle Children's Hospital.  Dr. Dobyns is both a medical geneticist and a pediatric neurologist, and he's the WORLD expert on Microcephaly.  I have seen his name come up so many times in the reading I have done on Microcephaly.  Throughout his career he has worked all over the country, so we are very lucky that for the past couple years he has been at Seattle Children's, just a few hours north of us.  We sent all of Dylan's medical records along with his MRI up to Seattle Children's Hospital about a month ago, in hopes that we could get in to see him.  He is booked through the end of the year and they have not yet released his 2014 calendar.  Everything that I have heard about this guy is that he is VERY hard to get into, but I am persistently calling up there at least once a week to make sure that we are able to get something scheduled as soon as his calendar opens up.

One thing that has struck me through this process is how my view of a "specialist" has changed.  Five months ago, I couldn't have imagined EVER stepping foot into the office of a pediatric neurologist, geneticist, or even physical therapist.  Now, these highly trained professionals are not specialized enough for us!  Its hard for me to believe that I have a child with a condition SO RARE that we are seeking the help of the WORLD expert!  The geneticist today told us that he thought Dr. Dobyns would be willing to see Dylan, because his case would be "different than most of the cases that he sees, and therefore interesting to him."  So our little sweet Dylan, who seems to me to be a totally normal 4 1/2 month old, has something going on with his development that is rare enough that the world expert in a super rare disorder would be intrigued by him.  That's just hard to wrap my brain around.

Sometimes this whole "quest to find the cause" seems a bit futile, and I ask myself if it's worth all the effort we are putting in.  I really do believe, at this point in our journey, that it IS worth it.  There are so many reasons, both for Dylan's sake and for the sake of our family, that I want to know....but that's a WHOLE different blog post!

Thanks for your prayers yesterday as I had my surgery, and as I recover (hopefully without being kicked in the knee by a rambunctious toddler anytime soon!).  And thanks for being on this journey with us.  I will never be able to express how meaningful each and every comment, email, and heartfelt message is to me.  Just knowing that I have you all as a support system, to cry with us, pray with us, and celebrate with us, makes this crazy life I'm living feel a bit more manageable.