Just a quick update on what I blogged about last time - He now has Children's Special Health Care, but it does not cover CoQ10 without a confirmed mitochondrial disease diagnosis. He also started the CANI program, but I have since stopped. I tried to give it a chance, but it wasn't relevant to us and I found it overwhelming to devote that much time each week to something that wasn't beneficial... plus the lady was about a half hour late for EVERY meeting. We tried to do a blended diet for Grant for a while. We got a very nice blender from BlendTec, but right now it is overwhelming to try and keep up with. I don't feel like I know the right things to give him and the blends are so thick and voluminous that it makes feeding him even more difficult. I haven't given up on it forever, just for the time being.
I was really hopeful that this latest genetic test (Whole Exome Sequencing) would give us some more insight into what was going on. Unfortunately, it didn't reveal much. It did find 4 different genetic variations, but they have unknown significance. Matt has 3 of them and I have the other one, and we are fine. Perhaps the combination of the four of them has some significance? No one knows. I thought this test would give us a clear answer, or at least tell us more about his duplication and our risk for future children. It didn't do any of that. They can't tell us our risk for future children because they don't know what is wrong with Grant. We plan on seeing another geneticist down at Riley, because I don't feel like they really care that much about us. I feel like they are getting the results and just reading them to us. I think there is more information out there if they looked a little harder, but it doesn't seem like they care to do that. Maybe I'm wrong and this is how they all will be, but I want to find out.
We have been down to Riley a few times. The appointments haven't been very informative. The biggest news is probably that our new neurologist who specializes in Mitochondrial Disease didn't seem to think that is what is going on with Grant. He kept bringing up Autism... which just a week prior our Developmental Pediatrician didn't seem to think that was Grant's issue. The Neurologist tried to give us some insight on our future and told us that Grant will most likely need help all the way through school (Including high school). He also told us to be prepared for Grant to never live independently. Our next follow up is in 6 months and we may do a skin biopsy to see if Mitochondrial disease is a possibility and if we need to proceed with a muscle biopsy. I am giving up hope on getting a diagnosis anytime in the near future. I am trying to come to terms with that.
We have started going to private physical therapy in addition to all the therapies he receives through First Steps. We have only been to the one in town here a few times so far because the week after we started we had the opportunity to go to an intensive physical therapy program at Euro Peds in Pontiac, MI. His program had him going to therapy for 2 hours each day for 2 weeks. We stayed at a hotel because the drive was 3 hours. Luckily, the hotel had discounted rates for Euro Peds patients. We had to pay $60/night, but our room had a kitchen and was really nice for the price. The hotel had a hot breakfast and provided dinner Tuesday through Thursday. We learned a few different things that help Grant during therapy. He was in a compression shirt, and that really calmed his tantrums from full blown to mild. He will work through the tears if you keep working with him. They also recommended compression pants and gloves. They want him in AFO (basically a shoe insert that comes up below the knee) to help keep him from hyper-extending his knees.
While we were there we did pick up a new skill – ROLLING!! He can now roll from back to belly and back to his back. He is really a rolling pro. He doesn't like to do it, but he will if you prompt him. He has only rolled on his own without prompting 3 times. But that is 3 more times than I expected!!! He still seems to lack motivation.
He has been fitted for the AFOs, and should be getting them in 2-4 weeks. I am pretty sure insurance should cover it all, so I hope that it helps his standing. I got to pick out a design to have on the AFOs and I picked Notre Dame. Matt is pretty excited about that! We went to Midwest Orthodontics and I was pretty impressed. In fact, it is the first appointment that I went to that made my life easier. While I was there I found out that they can order his SPIO compression gear. That is one less thing for me to have to worry about :)
I just had another foot surgery to remove all the hardware. I am excited for my mini vacation! I will try to blog more frequently. Sorry for those who keep checking to see that I haven't posted anything. It is hard to keep up with life, friendships, my health, and blogging.
