It was a couple of years ago when TJ was at a Genetic Appointment. I explained to the doctor what had happened to Madison when she was in the 4th grade and admitted at TCH for pain treatment for a chronic migraine and she had a severe reaction to "depokene" a seizure medicine that is sometimes used for migraine relief. It caused Madison to go into almost liver failure. It was one of the most scariest things I have every been through. To whatch her deteriorate so fast and be taken from the floor into ICU and for a Migraine. I had been through a lot with TJ in all these years, but Madison was my healthy one, to watch in her this condition was heart wrenching.... The genetic doctor at TCH said that I really should have Madison screened for a Mitochondria Disorder. I held on to this diagnosis for a while as Madison was not having bad Migraines at that time. Several months later after I received this information, Madison's migraines escalated again. Her Neurologist was Dr. Dryer at UT Physicians as her Neurologist at TCH had fired her right after the "depokene" incident.... So on Madison's next Dr. Dryer appointment when her Migraines were worse and I explained the "depokene" reaction, he agreed about the Mitochondria screening and indicated that they had the Mitochondria Director in their department. We scheduled the appointment with the famous "Dr. Koenig" and on our first appointment with her and she heard the "depokene" incident, that was all she needed to hear and all the Mito testing began and so has my addiction to Internet researching!
Madison's first blood work came back with abnormalities but not gross abnormalities so we proceeded with the "muscle biopsy". We went to the hospital on her scheduled surgery date, followed the nothing by mouth after midnight and everything. We get there and we were told that Madison can drink some Sprite or something that there was going to be a delay as Dr. Fletcher was in a middle of a very long surgery. Come to find out, we were sent home. Dr. Fletcher was performing a surgery on a five month old baby who had brain cancer and it was a very lengthy surgery. All the hospital liaison people came and apologized. Even Dr. Koenig apologized and said that had never happened to any of her muscle biopsies. There was no need to apologize, as I would want other parents to be understanding if it was my child going under brain caner surgery. The biopsy was reschedule for a couple weeks later. I don't thing it was a very good outcome for that poor little five month old baby, but I never really hear the whole story.
Muscle biopsy comes back with abnormalities but again not gross abnormalities. More blood is taken. The blood comes come back that she has a mutation on gene 9660 which is a medical marvel (they haven't seen a mutation on that gene yet). They then take blood on TJ and myself. That comes back and all three of us mutated 9660 which confuses Dr. Koenig because TJ presents so different than Madison and even some the symptoms that I had described regarding myself.
Madison has her Lumbar Puncture and she is in recover and our nurse that looks like "Kathy Bates" saw that the anesthesiologist did not use the Mitochondrial Protocol. We start to see a lot of people looking at the chart next thing the head anesthesiologist explained what happened. They run labs and they see she is reacting to the Lactated Ringers, so we get to be admitted and be watched to be sure she is ok. This is just a couple of days before the Mito Walk 2010. Keep in mind Madison suffers from a chronic Migraine, so after the Lumbar Puncture and we are admitted to the floor because of the reaction to the Lactated Ringers it was a while before she gets up. We go home and Madison started to realize she has another headache, the Post Lumbar Puncture headache. We finally get admitted for the Post Lumbar Puncture headache. They finally perform a Lumbar Patch. That headache is instantly gone. In the meantime, she missed the Mito Walk 2010, but TJ was able to wheel through it... That was our first Mito Walk..
TJ's Lumbar Puncture, we learned that he is "Cerebral Folate Deficient". which can explain why he is so different than Madison. So Madison is mutated on gene 9660 and has issues on complex 111, too many mitochondria, irregular shaped and too much fat in her mitochondria. TJ we are working off of Madison's information at this time.
