About a year ago, right here on this very blog, I wrote...
I know in my heart-of-hearts that my non-verbal little boy is not just "speech delayed." I know it. There is something bigger going on and it is unbelievable to me how strong that feeling is. Every possible "diagnosis" we've heard so far has just not felt right to me, and I don't think I'm in any sort of "mommy denial" either. I'm pretty realistic about it, no matter how hard any of it is to hear...
I just want to know my boy. EVERYTHING about him. Even if that "everything" includes a monster in his head...
Amazing how a whole year later, I am still on that same boat, in the same big ocean, floating along, not even a fraction of an inch closer to a shore. ANY shore. Freaken EASTER ISLAND for all I care, just GET US TO A SHORE ALREADY!!!
To back-track a bit... A month ago, Steve & I ventured back to Dartmouth to meet with two doctors specializing in genetics. To make a long story short, they stripped him down to his birthday-suit, and combed over his body in what I can only accurately describe as a live-autopsy as they quietly bantered back and forth about things like a prominent forehead, larger-than-normal ears, wide-set eyes, some weird thing about his eyebrows that I can't even remember.....
I was half-expecting them to start tapping on his belly like a cantaloupe at the grocery store.
When they turned around to look at us again... They told us, basically: "Your son has dysmorphic features, and we believe there is something going on here that could be genetic." They made sure to make good bed-side and tell us what a sweet, good-natured boy he is. Yeah. They haven't seen him at dinner-time, but I digress....
We then took our "dysmorphic" son off to the lab where they took eight vials of blood. This time, when the phlebotomist stuck the needle into his arm Keegan whispered "Oss, Hursh" which is Keeganese for "Ouch, hurts." But he did not scream, or kick, or even cry. I was absolutely amazed, and absolutely devastated at the same time. What 3-year-old doesn't cry when a needle is shoved into his arm? One that is a seasoned veteran, was the only answer I could come up with.
Funny side story... While we were setting up a follow-up appointment, I handed Keegan the basket of stickers for him to pick one. Neither Steve nor I was paying any attention to him, and he handed the basket back a few moments later. Still talking with the receptionist I didn't even look down at him. When we got out to the elevator I heard him say "oops" and I looked down to see Keegan bent over, and scrambling to pick up the 17 STICKERS he had just dropped... 17 STICKERS?!?!!? Steve and I both laughed! Maybe I was supposed to be a responsible parent and reprimand him, but I decided instead to let him keep all 17 stickers...
Yesterday we headed back to visit this time with our neurologist. It was a frustrating appointment that I just do not have the energy to explain, but basically since Keegan has been seizure-free for over 14 months, it's time for us to consider weaning him off the seizure meds, and seeing what happens...
While we were there, we received one of the 2 chromosome studies back. It was a Microarray Chromosome Analysis which showed an abnormality (duplication to be exact) of Keegan's 12p12.1 chromosome which is overlapping some part of his BCAT1, DAD1L, and LRMP genes, also interfering with his LOC196415. (If I had a picture of myself scratching my own head, I would insert it here.) Because of that, A FISH analysis (Fluorescence in situ Hybridization) was completed, which was non-conclusive. The only thing noted on the report is that the parents blood should also be studied, and that the only known syndrome with any link to that type of mutation is Pallister-Killian Syndrome.
To quote the neurologist "I'm going to google it just like you are."
(Any wonder why I am starting to lose my faith in doctors?)
The other test we are waiting on results for is Fragile X Syndrome. I'll let you do your own reading on each of those syndromes, if you're curious enough to know the realm of what lies ahead... My office-mate and I spent some time poking around the web today, and she stumbled on some weird (AND CRAZY COMPLICATED) breakdown of the 12p chromosome, and then we both panicked and bailed out because our ears started spitting out steam. I googled some info on Fragile X and Pallister-Killian, and cruised through the list of "symptoms" always stopping for a pause at the one that reads "mild to severe mental retardation."
Now..... I don't care how retarded you are. You could be the most mentally retarded, retarded person on the planet Retard... But somewhere, there is a Mother that belongs to you and she is pausing on that phrase thinking "No. Not my baby. NOT MY BABY!!" And she's never able to get past it. And the moment she read those words for the first time while she researched some rare and strangely unknown disorder that you may or may not have, everything inside her came unraveled and fell completely apart. She felt devastated. She hurt for you all the way to the inner depths of her soul and all the wind fell out of her sails. She wanted to hit rewind. Close the web-browser. Go back. Do-over.
Not my son.
Not my Keegan.
No.
Yet, I always come back to that gut feeling. Not wanting there to be anything wrong with him, but knowing that something definitely is. Knowing it is more than just delays, or Apraxia and an inability to form words. Feeling that the seizures were SOMEONE'S way of tipping us off. Believing in that, as batshit-insane as it may sound. Wanting to get to the bottom of this, whatever this may be. Wanting there to just be SOMETHING ON A LAB REPORT to point at and say "AH-HA!! GOTCHA, SUCKER!!!" So that we can read the case studies, and figure out what therapies work best, and give this boy a fighting chance at the best possible life he can live...
Keegan's Monster has been eluding us for over two years now. And though I'll never stop, I am getting tired of chasing after it. I am so very tired of my son being a big giant question-mark. I am ready for him to be an exclamation-point. A really big one, in a font like IMPACT or GILL SANS ULTRA BOLD, because that is who he is. Even with a damaged 12p12.1 - an exclamation point, all-the-same.
Huh? Keegan's neurologist is going to "Google" the latest unspellable, unpronounceable syndrome to label Keegan?
Are you freakin' kidding me? Oh, dear Lord! Even if he had suggested he was going to check out info on "WebMD" I still find his professionalism and skills (particularly in research) MIA! But "Google?" Stephanie, grab Keegan and run away as fast as you can from this neurologist. There's something dramatically wrong w/him. I wouldn't be surprised if he got his MD and license from some on-line degree-granting, license-issuing program. Perhaps "Google University & Med School At Home."
Although I don't know your little guy, Keegan is a doll (I've seen your pics/You Tube pieces of him) and he's bright, adorable and so in the moment with you. (Jenn ALWAYS says so, too.) You're a strong Mama Bear (grrrr), and I know YOU will get to the bottom of Keegan's issues.
Stay strong and tenacious.
Janice
Posted by: Janice | July 23, 2009 at 08:35 AM
I wish I had something profound to say that would put things in perspective and take your pain away. But I don't. Instead, I will send lots of (((hugs))) your way. As someone that gets a peek at your life through your blog, it is very clear that you are one seriously strong chicky, and I have no doubt that you will find your way through this.
Posted by: kristie kulik | July 22, 2009 at 02:35 PM
He is most definitely an exclamation point, Steph, and whether that exclamation point is in bold, underlined, or italicized, it still makes the impact. Keegan will to. You are an incredible mom, and I'm sending you all the virtual hugs I've got as you keep taking baby steps forward in the dark.
Posted by: Kris | July 21, 2009 at 11:10 PM
*hugs* That is a lot to take in as a reader, let alone as a parent. I second what Jenn said, everything she said, and it bears repeating that Keegan is awesome and you are amazing.
Posted by: Sarah Shea Roberto | July 21, 2009 at 11:05 PM
17 stickers for 8 vials of blood? That's 2-for-1 plus the extra for not crying. I think the docs should consider themselves lucky for getting their dang basket back!
Stay tenacious, because you are right. You are always right.
Posted by: mark | July 21, 2009 at 11:01 PM
wow steph.... i can barely wrap my head around all this.. can only imagine how you and steve feel.... i know you have had your gut feelings from the start.. and i have always believed that no matter what... keegan is a FABULOUS kid.. who has a wonderful, amazing STRONG mother :)
love you
Posted by: jenn shurkus | July 21, 2009 at 10:29 PM