NEWS ON THE BIOPSY

I got a phone call today from the specialist in Cleveland. He got back some preliminary results regarding Jacks muscle biopsy.

It is all very complex but I will break it down the simplest way I can. They found three major abnormalities. One Jack has more mitochondria then he should. They appear to be normal but he has more then he should. Complex 2 and 3 our not working correctly ( inside the cell). There is a problem in the forming in complex 2 and 3. This is were genes are involved. The fat component is not being processed how it should.

What that means is Jack has confirmed mitochondrial disease. Unhealthy complex 2 and 3. He said that it is more uncommon. He is sending the muscle out for more specific gene testing. He is meeting with his colleagues at the end of the month regarding Jack. He will get back to me with more test recommendations at that time. He still wants him to have the gene test that my insurance doesn't cover. It is still the same in that there is no cure and no prognosis. He is contacting Jack's specialist here to discuss medication. What this confirmation does is allow for more genetic testing. It also allows for more things to watch for and more treatment possibilities. We would want to pursue more genetic testing now in hopes of pin pointing gene issues. Plus he said at this point he cant rule out another genetic disease primary which could be causing the abnormalities and the confirmed mitochondrial disease could still be secondary. We can be on a better road now to finding that out. Either Mac and I our both carriers of the disease or just me or just him. This is something we might never know, but the more we know the more we can find out. We would like to know as much as possible for our other son also. He could be a carrier he could also not carry the gene at all. It could mean others, cousins, uncles, ect.. could be carrying in there line and not be aware.

I am glad we got results. What a answer to our prayers.Some would be upset to know for sure there is a issue with there child.. Deep down I always new and this gives me hope. Hope to be on a road to confirming or denying another disease as primary, and Knowing better what we are dealing with. What is hard is there at this time is no cure, no prognosis. What I hear is he will get worse with age most likely not better. It is frustrating because mitochondrial disease is so complex and fairly newer in the medical community. Things are changing every day. What is even said through the MDF is always changing. I thank God Jacks Doctor (one of only two specialists in the US) is the main one for all the research and papers you read. We have someone wonderful and knowledgeable on our team. We believe in faith Jack is going to have a great testimony someday. The cards are stacked against him, but he is going to win the fight and give the glory to the Lord above.