Saturday, February 25, 2012

Long time, no blog.

It was bound to happen, I knew I'd not keep up with this as well as I should. But, I guess in a sense, that's a blessing because thankfully Colt has had a pretty uneventful couple of months. We followed up with Neurology in January, and his neurologist was EXTREMELY impressed that we haven't seen a seizure since September. His Keppra dose (the only seizure medicine that he's on) is still at a very mild dose, and Dr. Farber kept it there since we don't really have a need to increase at the moment. One thing I have noticed while reading up on other 1p36'ers is that the majority of them take up to 3 seizure meds a day, and still have very little luck keeping them controlled. We are very blessed to not be in this boat. He is, however, going to have to have another MRI done to compare to his first back in August. Because of the characteristical large anterior fontanelle of 1p36 deletion syndrome, his neurologist wants to do a follow up and check up on things. Confession: of all the procedures I've seen this little boy go through, I HATE MRI's the most. The noise scared me and I worried about him being scared the whole time.. To my surprise, he was fast asleep when he came out! So, April 9th is our next MRI date, will be so glad to get that over with!

We also recieved our official "write-up" of Colt from the Geneticist. To mine and Eric's relief, it was clearly stated in the text that we did nothing to cause this, nor was there anything we could have done to prevent it.. Just a genetic fluke. And, it was not a deletion that he got from us.. So no chance of any other children having this. However, we made the decision earlier in our journey with Colt that 2 sweet boys was enough for us.

February 15th, we followed up with Cardiology.. and got an awesome report :) His cardiologist, who I LOVE, pointed out during the Echocardiogram that it is SO hard to even see Colt's primary CHD, Non-Compaction Cardiomyopathy, at a normal speed setting. He literally had to slow the Echo report down for me to even see the lag in function or the many trabeculae that line the bottom of his left ventricle.  His shortening fraction, which we have been advised that if it falls under 27% it is no longer considered normal functioning, was up to 32%.. The highest it has been since his birth. We didn't increase the dosage of any of the three heart medications, again, due to no real need and also a plateau of his weight. We'll be back in 3 months!

Colt has his 2nd hearing test on Monday, essentially set up because he failed his first in the NICU.. But, now knowing of the 1p36, we know that there is a chance of hearing loss. We also are scheduled to see a optometrist to check up on eyesight for the same reason, a chance of different vision problems are associated with this syndrome. However, I think that Colt's eyesight is one of his strong suits.

He rolled over from back to belly for the first time in January! Very proud moment for both me and daddy. Still lacking quite a bit of head control, but he is definitely making huge strides with the help of First Steps.  Unfortunately, right at the peak of his progress, he started the battle of his top front teeth, then pneumonia. We missed 3 weeks of therapy and we took a few steps back. But, he seen both OT and PT today, and they were impressed with how much he was still doing. Our biggest struggle with Colt is that he has his most strength in extension, meaning that instead of bringing his arms and legs into the body, he tends to throw his head, arms, legs outward from his body. Right now, that is where we are focusing our attention and work towards. Once he learns to bring his arms in instead of out, rolling over will come much easier to him.

All in all, things are great with Colt and we couldn't be happier. Sleeping habits are still iffy, he naps more at night and sleep heavier during the day. One of our only concerns right now is health coverage for Colt in the future. No insurance company in this day and age would ever consider taking him. And while, thankfully, right now he qualifies for Medicaid.. We fear that as Eric progresses through his new job and earns better wages, he may lose this coverage. I'm doing my research, because in my eyes there HAS to be something out there to protect children like Colt. Just because you have a special needs child shouldn't mean that you are forced to keep a minimum wage, part itme job just to ensure that your child will have medical coverage. That being said, if an insurance company ever accepted Colt, we would definitely sign him up. But, I do not see that ever happening. We'll keep the mindset that we'll cross that bridge when we get there, but I will still have some sense of direction of where to turn.