We just got back from the trip to Atlanta with the geneticist that specializes in mitochondrial, metabolic and inborn errors of metabolism. She gave us the swab kit that we will do early next week and send off to Philadelphia for enzyme studies. So far all of the enzyme studies done have matched the muscle biopsy results on other patients with the exception of two - which were both coincidentally processed at the same lab. Sounds like a lab problem on those two. I guess I will be looking for the enzyme studies to show the mito complex IV deficiency again. Hopefully it wont be adding any other complexes to our diagnosis. I will have to schedule Megan for an updated EEG, MRI and MRS. Like what we did in NY 2 years ago. It is important for diagnostic reasons. Right now having this blanket mito label is like being told you have cancer but that is it - that is all you get - no type....
The Dr. does think that she fits the Leighs Disease which is what I have always thought. It is not what I wanted to hear though. The prognosis is very poor. The majority of the children die within one year of onset of symptoms. Others live a few more....7 would be considered old for this disease although there are a couple I have heard of at 9 and 11. Needless to say I am very sad inside and I hurt so much inside.
I swear Megan gripped me tonight tighter than I have ever felt and I dont think it was involuntary muscle contractions. She had her little grin on. I hugged her so tight and kissed her little cheek and told her how much I love her and how special she is. She looked so content and like she understood somehow what I was saying or understood my emotions. I pray that she did and that she knows how much I love her. To look at her lying still sleeping you would never guess anything is broken. She is so perfect and pretty. And soon to be four. My mind started to wander today looking at the boys. I was thinking what age will they be when they lose their sister - how will they deal with it and that it is not a question of if they will lose her, but when will they lose her, and her Daddy - WHEN WILL I LOSE HER??????? I feel bad to even think it - let alone put it in writing. It feels like I am deserting her but I am not. I never will. I need to find my faith and trust that God will do what is best for her and for us and love her as much as I can for as long as possible.
Even though I was sad at the end of the stay in Atlanta, it was good to see Gwen, Mike and Erin. It was wierd with Amber not living there anymore but that is what happens - they grow up and move out. The boys had a ball with Aunt Gwen. While Pat and I took Megan to the Dr. they went to Stone Mountain with Gwen. At the top of the mountain carved in was GARRETT M. Ryan saw it and Gwen said he told her that it was for Megan Garrett. I thought that was really cool that of all things that was at the top, and that they saw it and got a picture of it! I guess she was kind of there with them in a way too.