Zach's Journal

5 1/2 years ago this whole thing started. I keep looking back on it in awe and on where life has taken us. When Zach first got "sick" I didn't really have a computer to investigate things, I knew noone that was in a wheelchair, or had a kid with any kind of disease. My world is so different then it was 5 years ago. It actually amazes me and in someways I'm thankful for it. Even though I would give anything in this world to have Zach not suffer and to be a healthy hyper 7 ...

After 5 years we have finally finally finally found the mutated gene that is causing this, and I was exactly right Zach has INAD (Infantile Neuroaxonal Dystrophy)

Hello again, Thanks for faxing the report. I think the results offer pretty compelling evidence that INAD is the right diagnosis for Zach. The mutation in exon 14 is a convincing one, meaning it should be associated with disease. Although the mutation in exon 17 is predicted to be benign by the algorithm listed, the amino acid glutamate (glutamic acid) is changed to lysine, which is basic. This is a significant change for ...

We are home, and after a bittersweet ending to the day it never has felt so good to be able to plop on the couch. It’s 6 :15 now and our buddy Zach is sound asleep. I am hoping to join him shortly!!

Today turned out to be a day of unexpected news. I knew when Zach’s neurologist and a team came in behind her we were going to get a blow. Dr Gilles was very unexpected, especially because we were at Minneapolis Children’s hospital and she works out St Paul Children’s. So you can imagine ...

We had a Doctor’s appt with Kris at Dr’s Shapiro’s office today. We missed our appt in July because Zach had his nerve block so we had a lot to catch up on. I’m going to be detailed with this journal entry as we are hoping that maybe someone who reads this website maybe is experiencing the same thing as Zach and maybe can help with this mystery.

Basically today we made a list on what is actually showing up on Zach, what is working and what is not. Kris said Zach is so abnormal and ...

Ahh what to say, where to start. Today a day I have been wanting and not wanting for so long. We have a diagnosis. Zach has Mitochondrial Disease.

I have found this to best explain Mitochondrial ..... Imagine a major city with half its power plants shut down. At best, such conditions would produce a "brown out" with large sections of the city working far below optimum efficiency. Now imagine your body with one-half of its energy producing facilities shut down. The brain would be impaired, vision would be dim, muscles would twitch spastically or would be too weak to allow ...