Progress Report

Grants progress has always been a slow journey.  He will gain skills only to lose them, then gain them, and lose them again.  It is always a bitter sweet moment when he makes progress because I'm not sure how long it will last.  The first time I noticed something was different with Grant was 4-6 months old when I noticed he didn't seem to be using his arms or reaching as much as I thought he should.  That lack of arm usage continued until he was 11 months old.  Although he started reaching for things then, it was only when you dangled things directly in front of him.  He payed little to no attention to things to his sides or sitting in front of him.  A week after we started giving him the levocarnitine he started to reach for things all around him.  I'm not sure if it was a consequence of timing, the medicine, or being on the g-tube for 6 weeks.  Regardless of why it happened, I am very happy.  He seems a lot more aware and alert!  He is exploring things frequently now.  It really is remarkable to see.

Out of the vitamin cocktail that was prescribed we have only been able to get the levocarnitine (started 4/26/13) and the folinic acid (5/4/13).  The Riboflavin is over the counter and I found that when I crush the pills and try to give it to him by mouth, that he spits it out.  I don't blame him because it is NASTY!  I tried to put the crushed pills in his G-tube, but it clogs it.  I'm working on getting it liquified at a compound pharmacy, so I can put it down his tube without clogging it.  The coenzyme q has been a complete and utter nightmare!  I can buy it online, but it costs $200 for a month supply.  The insurance company says that it doesn't recognize the drug, the nurses at the neurologist's office have been completely useless, and the pharmacy is too busy to care.  I am trying my hardest to advocate for my son, and I am calling all three places nearly everyday.  Hopefully, my efforts will get me somewhere soon.

I also found out that many of the vitamins he was put on is very commonly prescribed for people with mitochondrial disease. Mitochondrial disease was first mentioned when we met with the developmental pediatrician in December '12.  He said that it could explain Grant's delays or it could be one of two other things as well.  The Neurologist mentioned it again when we met with her last month.  I never thought too much about it until I researched it a little more and now I'm convinced that the Neurologist highly suspects Mitochondrial Disease.  I am working on getting in to a Mitochondrial Disease Specialist, but I can't even make an appointment until I fill out a bunch of paperwork for them to review to see if Grant is even a candidate to be seen.  Even then, I was told the wait would be 12-18 months.  Ridiculous.

The other progress Grant has made is mostly all cognitive.  You can just tell that he is studying things more, exploring with his hands more, and moving his body more.  He still is pretty limited physically.  He has only been rolling from belly to back without help.  His strength is very weak.  I'm hoping with all his therapy and constant encouragement from Matt and me that he will get stronger and stronger.  I do everything I can to help him, and I am hopeful for the future, but I still worry a lot.  Once we have answers I feel like I will be able to focus more on the here and now and not the future.  Regardless, he is one cute sweet boy and I love him a ton!

Finally some GOOD news!

Grant was approved for genome sequencing!!  It won't be final until we get written confirmation, but I am quite happy with the news!  The test results will take 4 months after his blood is drawn, but at least we are on the right track.  Just because he might have a genetic condition, doesn't mean that is the only issue he is dealing with so, I am also trying to get a second opinion from Akron Children's Hospital regarding his high amino acids.  I was told that it could mean a mitochondrial disorder, but that we couldn't test for it until he was 2 or 3 and had a mature muscle to take a biopsy from.  That seems like a long time to wait, so hopefully the second opinion can give us more options.

The other good news is that my hubby got selected to play golf with a local weatherman.  If he wins, then he will win $500 worth of golf gear.  If he gets a hole in one on the second hole, then he wins a Lexus!  Not that it is going to happen, but it is fun to have the opportunity!

I got to be a juror the other day.  I was selected as the foreperson and I got to hand the verdict to the bailiff.  It was neat to get to do something that most people don't ever get to do.  The gist of the case was that a guy broke into a home through a window, ransacked the entire place, stole jewelry and small electronics, ate a hot pocket, and left his bloody shirt behind.  He then pawned the stolen property the following day.  His only defense was that there was not enough evidence to convict him and that the state didn't eliminate the reasonable doubt.  I'm pretty sure the guy was a public defender because it was a very weak defense.  We found him guilty.

I am going to post again soon with all the progress Grant has made since getting the g-tube.  Honestly, it is pretty remarkable.  My parents even noticed a difference after being gone for 2 weeks!

Here is a recent picture of the family: