So this is going to be the first entry of this blog. Many things happened before today and you can read some of the background and issues that Jagger had at the top of the blog under the Jagger Tab.
So we had our appointment today with Nurse M (genetic nurse) to get the results of Jagger Muscle biopsy and Spinal Tab (ST) from August.
We went over many things but in summary Jagger has a very clear case of Mitochondrial disorder. At this time, it is not possible to classify it under a specific Mito disease, so she said to call is Jagger disease for now.
She explain a little about Mito disease in general and about the concept of baseline. For Mito kids, when something happen, such as an illness or something that make them very upset or change their routine dramatically, they can have what is call a "mito crash", when that happened, it can take them a very long time to get back to their initial baseline and depending on the severity of the "mito crash", they might never get back to baseline. So it is very important to try to do all we can to avoid any crashes for Jagger.
She also suggested we start him on a "mito cocktail" of drugs to see if that help him or not, it is not proven but it does help some mito patients. He will take Carnitor, to help carrying fatty acid into his Mitochondrial cells, Leuvocorin to help his brain function and Co Enzyme Q10 to help the energy move from within his Mitochondrial cells. Since they are consider supplements, some of those drugs are not reimbursed by the insurance and are very expensive. The Q10 for example is about $300 a month and very difficult to get as it is a special concentration that can only be bought on the internet.
We will try those drugs with Jagger for a few months and see if they improve his energy production or not. We have to get a blood test 6 weeks after we start the Q10 to see if his body absorb it or not.
So now all we can do is wait and see if the cocktail help him out, there is not cure for Mito and it is progressive, however, the range of the disease is very wide, it can vary between just having to take drugs and a special diet to very short life expectancy depending which organs are starve of energy
UPDATE 11/08: We received the summary notes from Dr. S (Neuro genetics Dr) this morning, and it said that Jagger Mito disease is "severe" based on clinical/test results. he also said he is not sure the cocktail will help him at all based on the severity of his condition. Hum, can this get any worst!