We finally had our long awaited genetic appointment on 1/28/14. I took me this long to write about it because its just hard. Its hard to deal with all the what if's and the unknown that having a chromosome abnormality brings. The genetic team was pretty darn amazing with how they handled Jojo and his sensory processing. He gets very agitated and overwhelmed in new places and especially with 4 doctors all around in an exam room. The whole appointment lasted about 2.5 hours and he managed to not have any huge meltdowns. They examined every inch of my kid. They noticed the littlest things, like tiny birthmarks, the position of his ear vs eyes, they way he looks when he is just chilling to how he breathes in a resting state. After all was talked about and looked at we were told that because his deletion (chromosome 6..specifically 6p22.3) is so rare they don't have much to offer in way of advice or what to expect. She did noticed that Jojo takes some deep breathes for no apparent reason and so that will be looked at during an upcoming 24hr observation. He will also have an EEG while there and a sleep study to see why he is waking at the same time every night and and to see if there is a correlation between the laughing spells and his waking. They also did further chromosome testing, specifically looking at chromo 15. They told us some of Jojos symptoms are characteristic of Angelmans syndrome. While im very thankful to have the opportunity to see a genetics dr and try to get answers I have to say, ignorance is bliss! I was just getting used to autism with a side of chromo 6.
I tend to obsess over what they suggest is going on and the reality of the fact that he has so many hurdles to cross. As he gets older the developmental gap is getting bigger. Its not so easy to pretend that he is just a lil slower than his peers. Its heart wrenching to see what he "should" be doing or to hear that at 3.5 yrs old he is still at a 14mo cognitive level. I usually go through this weird down in the dumps kinda mode for about a week after an appointment. I spend that week researching every new term I heard and trying to think of new ways to approach learning specific to Jojos needs. Then I snap out of it and realize that he is making such great progress, in his own timing. He really has had an amazing few weeks with lots of new sounds and babbling. We hear words but consistent use of the few words he has is just not there yet.
We have an exciting new opportunity that we heard about through the chromosome 6 group we belong to, It's called IRUN4, a nonprofit organization that matches up runners with a child or adult with a disability. I was so thrilled that we got a match the same day we signed Jojo up. He has a huge Love and desire to run. He stared running before he even walked..no seriously! He went from a funky crawl to just running. He wouldn't stop and it was one of the first things he did that was just a lil different than our older kiddos. He ended up getting so into it that he would run till his heart would beat so hard and fast he would get winded. We had to stop him. So now we go outside and have to restrain him from running because he will just run and not stop..But now he has a runner. She is pretty amazing too with a great story. We adore her already and Jojo loves seeing her posts and pics. To get more info: www.Irunformichael.org
Jojo has two super cool new signs and it's been 2 weeks so I consider them here to stay. He signs EAT and will get so excited when he gets food be a use he ASKED for it! He also signs I potty and is doing pretty well with the first stages of potty training. I am just amazed by his drive to learn and his ability to overcome hurdles one by one.
Hand in hand, all together. We got this!