WARNING: Dramatic Post!

I struggle to find a way to start this post and not have everyone out there scared that I'm losing my mind...because some days I truly feel like I'm losing my mind. Days where I can't focus on anything for more than 2 microseconds because my mind is flooded with horrible, unrealistically insane thoughts and I have a pounding headache to the point I think that if someone with a cheery smiley face comes up to me I just might jump at them and literally bite their head off.

Days like this S.U.C.K. Days like this make me want to drop everything I'm supposed to be doing and run home and crawl into bed and not deal with any of it.

Then the realistic Jen comes back.

I will try to keep all the overly optimistic people in mind as I write this so that I don't scare you too much, but just so you know, I am NOT the overly optimistic type and overly optimistic people drive me crazy...so please, keep that in mind also.

Today was Mason's medical genetics appointment. The last one we had was at 6 months of age. I've been putting this appointment off for 2 years...mostly because I didn't think it had value...I mean c'mon, we've gotten his diagnoses...what else is there to know? I also put it off because I didn't want to deal with what I knew was going to be said.

Our first genetics appointment was with a Genetics MD and a Genetics Counselor. I believe that they do this to have the "medical" person in the room with the facts and the counselor to make sure you are mentally okay with what they are saying. We had both today, too. The MD kicked things off by asking about Mason's progress.

MD: So what can you tell me about Mason's development?

Me: He can sit unassisted for a little bit, is starting to roll, is starting to take steps.

MD: So can he stand holding himself with the help of furniture (or anything)?

Me: No.

Michelle: If he's sitting on a couch, eventually he will fall to the side, he can't hold his trunk in one place.

MD: Okay, so this is what I think...

Prepare to have a round of bullets unloaded at your chest at point blank range...(again, drama)...

"Because we've seen what Mason's progress has been over the past 3 years, which has been very slow, it is my medical opinion that he will never be able to walk. He may be able to take steps, which should still be a goal of yours, but he will not be able to walk himself around as a normally functioning adult".

UGH. Pause for me to collect my thoughts...

Then we got talking about his speech. Mason should be able to talk...and its not the "system" he's been given that is preventing him from talking, its the brain to organ connection. Mason's cortical dysplasia is the biggest inhibitor of anything for him. It is what has caused his tongue thrusting, muscle inconsistencies, cerebral palsy and developmental delays. If Mason had VCFS alone, he would be a highly functioning individual. His VCFS symptoms are definitely on the lower end of the seriousness range. It's the cortical dysplasia that fucked everything up. Pardon my French.

So, again, in the MD's medical opinion, Mason will never be able to communicate through speech or signing. His brain cannot send the messages to his hands or his voice to communicate the way he needs to. It was at this point that she brought up the possibility of other devices, such as devices with pictures that he can hit to show what he wants or "switches", where he can answer "Yes" or "No" when prompted with questions. She explained that it can be very frustrating for individuals like him to communicate without adaptive equipment. (I agree - but for the parents also!)

Up to this point, I did not picture myself with a full grown son moving around assisted in a monster metal contraption, wiping drool from his face, having him move a switch to answer me yes or no. I just didn't.

Whew...Lastly...

There is a tiny chance that the cortical dysplasia is not a result of the VCFS. There are cases of VCFS with cortical dysplasia, but very few. Our Genetics MD is going to send Mason's brain MRI to a nationally-renowned brain geneticist. Talk about medical advances...apparently he can view the images to see if they suggest that the two are not genetically linked. If he suspects that they are separate, we may get more genetic testing for Mason. If Mason's genetic tests show that the cortical dysplasia is from a different gene altogether, it may be necessary for Chris and I to have more genetic testing....which again, means that the idea of more children is on hold.

Keep in mind that this is a very tiny chance...but part of me wants that confirmation before making a decision for another child. I mean, Chris and I have proven that we can handle a lot, but let's not push the limits here!

So baring all the other unimportant details, that was my day. My super crappy, head-pounding, tearful day. I'm still considering the "drop everything, go home, get into bed, ignore it" plan...but I'll get over it. Life goes on. At the end of this day, I still have an incredibly supportive family, a great husband and a cute-as-hell, happy son.

But for now, allow us to drown in a little self-pity.

You know what this day needs? A simple "Hi".