Dear Family and Friends,
Where do I begin? Some of you may know it has been a real difficult week for our family. We received Madilyn's MRI results and it wasn't the best of news. It is so strange all this time we have been anxiously waiting and waiting for a diagnosis for Madilyn, but when you finally hear she has one, you almost wish there wasn't one. We have been so use to hearing her test were negative, that when you here something is abnormal you can't really process the word. It is definitely something we were not prepared for!!
We received the call from her genetic doctor Thursday night (Dec. 8th) at 5:30p.m. I was home alone with the kids, and Madilyn was crying, Austin was screaming, and Lexi had the T.V blasting. I was not in any position, or condition to hear what I was about to hear. "Your daughters MRI is abnormal," what does that mean. I was so scared to hear what he was going to tell me next, good or bad what did this mean. He said there were changes that were not seen before when she did the MRI at 6 months. It showed changes consistant with Mitochondrial Disorder. This was not a new word for us, for John and I had done a lot of research about this disorder in the past. We always came across Mitochondrial Disorder on the internet and thought Madilyn fit the mold. The doctor then began to tell me he was 90% sure this was it but needs to look at her muscle biopsy results and order one more blood test to confirm. This is where I went into a state of shock, and everything he began to tell me, I was not prepared to hear.
What does this mean, what his her prognosis, what can we do to save her, is there a treatment? The doctor's tone soon changed, a real calm tone. He said that Mitochondrial Disorders do not have a cure. They are degenerative, and every child with this disorder is affected in many different ways. Mitochondrial disorder (disease) are a group of disorders caused by dysfunctional mitochondria, the organelles that are the "powerhouses" of the cell. Mitochondria are found in every cell of the human body except red blood cells. Mitochondria convert the energy of food molecules into the ATP that powers most cell functions. Mitochondrial disorder are often caused by genetics or mutations to the mitochondrial DNA that affect mitochondria function. Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because mitochondria are so critical to cell function.
Basically Madilyn's energy source mitochondria (the powerhouse of all are cells), is diseased and not functioning properly. Mitochondrial disorders may be caused by defects of nuclear DNA or mtDNA. Mitochondrial DNA deletions generally occur in one family member only, with no significant risk to other family members. Mitochondrial in Madilyn is caused from a gene mutation in her DNA. This causes her to fatigue quickly, and even the smallest task, like eating uses up all her energy sources.
What now? Our doctor wants to meet with Madilyn's Neuroamuscular doctor to go through the results again of her muscle biopsy, and then we will proceed to do the blood work that basically confirms Mitochondrial disorder. At this point he is confident she has it. It was not a good day for any of us. John and I and his family pretty much cried all day and night. Darrell (father in law) gave John and I a blessing which helped give us a little peace.
I am really scared what is to come, and I can't even think of the future or I just break down. I can't even fathem Madilyn not being with us. I honestly can't believe this is happening and I don't really understand why? I just hope we don't have to watch Madilyn suffer from this disorder, and pray she won't. If this is God's plan for her, I hope she will be go in peace.
Our life will forever be different, and we will live each and ever day like it is the last. I want to have the best of time and memories with our little Madilyn, and want to make her as happy as she can be while she is here. I know if she does leave this life early, she will be going to a better place, a place she can walk, run, talk, and never have to be in pain again. I have faith that there will be family greeting her with open arms and waiting to hold her in Heaven. ( oh I wish it was me) (Please God don't take her). Am I Strong enough for this, sometimes I wonder?
If you try to call I am not really feeling up to talking by phone. Emails are nice, and prayers. This is a very difficult time right now for all of us, but I do truly believe Heavenly Father is there and listening. Please Please Heavenly father give John and I the strength to over come this. I know this is but a small moment on earth, but I need your comfort and loving arms to helps me survive this.
