This has been the most difficult post I've ever written on the blog. I've been wanting to, sitting down, starting, deleting, and walking away from the computer several times over the past few days. The words just won't come. I can't do it justice. I can't express verbally the emotions running between Adam and I right now. I can't put my finger on just why I seem to be unable to process the information i've wanted so badly for so long. When I sit down to tell you all, I go numb. My hands shake. My teeth are clenched...I'm not angry. I'm not in shock, not even surprised, really. I'm not confused. I'm not sad. I'm at the same time, both at peace, and yet not at peace.
I guess my biggest realization after our trip to Atlanta was that knowing what we are up against in all reality, doesn't change much. It's not any easier to fight. I don't feel any better. I thought I would feel refreshed and ready to take on whatever it was. Instead, I feel defeated and unsure. Before our trip, I looked at Addison and felt an overwhelming urge to FIND IT. Define what seems to be defining her life. Because where there is knowledge, there's hope. But I don't feel that way now.
I don't regret going by any means, but I regret having expectations of myself and how I would react and feel afterwards. When I walked out of her office, I felt relief, sadness, anger, desperation, and a hundred other things. My heart raced. I wanted to cry. Sleep. Throw up. Run. Praise God. And instead we sat in the car, as we drove away, smiling and chatting about things like everything was going to be fine. We didn't collapse into one another's arms and finally release the fear and uncertainty of two years of pain. Maybe we should have? I don't really know. People tend to think of their lives as being defined by a moment that changed everything. I thought this would be our moment - the moment someone finally said, "I've seen this before." I thought it would change our lives into before-we-knew and after-we-knew. But it was strangely indifferent.
That's not to say I am depressed or unhappy....because I'm truly not. I'm still smiling. I've found myself with a sudden urge to grab life and treasure every moment with the girls. I feel a sense of elation holding Addison and Audrina in my arms. This is OUR fight. Together as a family. We were given this life, and that is what I am clinging too. God's design for us. Which must be true, considering the rarity of the autsomal deletion that likely brought about the girls condition. Adam and I, passing on this mutation, each, makes winning the lottery look like a sure bet. Only God could make two people fall hopelessly in love and have them each carry the instructions for something catastrophic and rare that only 1 case has ever been published on to date. And then, each child would have just a 25% chance of it happening. 1 in 4. Twice in a row. God's plan. I don't argue with God - He knows far more than I do about what this has to do with the world... and who is inspired and who is brought to Him and how He will be glorified throughout our journey.
Thank you for being patient with us as we took some time to reflect on the situation. One of the main things that came up between Adam and I in the days that followed our trip, was the idea that we need to start living. Really living. Forget the money, forget the pain that tomorrow might bring. We ALL, healthy or sick, have a limited amount of time here on Earth together and I don't want to wish I had spent more time LIVING when I had the chance. My family is priority one in my life behind trusting in my God and Savior, Jesus Christ and everything else needs to wait. I don't have time to be mad about someone cutting us off in traffic, or the fact that the person in front of me in the grocery check-out is taking forever to pay with a check. I feel so strongly that our priority is now to STOP what we are doing and just soak up the joy that is found in togetherness. There is something beautiful going on in our life, and yet its painfully ugly too - and frankly, its all in how you look at it.
I'm done chasing a life that wasn't meant for us. So you'll be seeing many more pictures of how much fun we are having as a family. I hope you see the joy that will be radiating from the girls. We've wasted too much time already. I won't be spending any more time traveling, trying to find someone to help them. There's no need - that time could be spent reading books and snuggling and kissing little foreheads goodnight. Money has controlled our lives for so long due to the girls expenses- the struggle to get by has eaten so much of our happiness. But a future that doesn't include memories of spending every possible moment loving my incredible children and husband is worthless anyway. Our life needs a change, starting immediately. God will provide enough, I have faith in that. But our Bucket-List-Living starts today. And the first step of that life is to stop making plans. God has better ones. We will have faith in those plans. We will stop questioning what will happen tomorrow.
Mitochondrial Disease. Two words that meant nothing to me until June of 2011. A GI doctor at Nationwide Children's Hospital told me that she was concerned that Addison may have a neuromuscular problem, perhaps something called Mitochondrial Disease. I went home and googled it and thought it sounded nothing like Addison, thankfully. And now I am enraged when I think of how many kids are suffering and dying and losing hope against something that the average American has never even heard of. People have nasty debates with one another over vaccines and yet our kids are dying EVERYDAY of this monster no one has even heard of.
Dr. K was confident of two things:
Our daughters are suffering from the same condition.
And that condition is very likely Mitochondrial Disease.
She explained how she began to go through our records and how Mito jumped out right away because of some labwork and other clinical things. But then she got to the single page that has been burning a hole in my head for a couple of months now. POLG1 gene sequencing. There was a deletion found...the report listed it as having been reported as a known disease-causing deletion in another patient, who was diagnosed with Leigh's Syndrome, the most deadly type of Mitochondrial Disease. The doctor who ordered the test said Addison did not fit the clinical presentation of Leigh's closely enough and so they decided it was an 'incidental finding' and clinically did not mean anything. That's when we requested Dr. K's services.
The doctor shook her head as soon as she read it, and said that is simply not the case. She believes that this deletion IS the most likely cause of Mitochondrial Disease in our girls and that they are suffering from a form of Mito very similar to Leigh's. She is running a new test that gives a bit closer look at the deletion and will give more information on its size and exact location. Then when we get the details on it, we will run it on Audrina. If its a match.... we have our full answer. However, since lesions were not identified on their brains on the first MRI, our DX would be Leigh-like Mitochondrial Disease. Unfortunately, as she said, the prognosis is not good, so the wording of the exact diagnosis is nothing but 'semantics'. She did not get into too much of that, and said once we confirmed the diagnosis we would discuss our plans more in depth. I'm sure she could tell by the look on our faces that we already knew what we needed to about the prognosis. These kids do not get the same amount of time the rest of us do. Especially when they have progressed this far by age 1 or 2.
If the deletion is not a match, we will look at other possible causes of mitochondrial disease, including an addition of extra chromosomal material on Addison's Chromosome 1. The prognosis is generally the same regardless of where they identify the problem to be. She explained that we have more than enough information genetically to proceed without doing a muscle biopsy, which at this point would be more damaging than helpful. We discussed repeating MRI's again, to check for the progression or formation of lesions on the brain, which is what happens in Leigh Syndrome but she felt that, too, was too risky as anesthesia seems to be a trigger for worsening in them. And without several cases to compare to, the information gleaned might be useless anyway since they may be proving to be the first case to have the regression and demonstrate degeneration without the lesions.
So we won't call it an official diagnosis until we get the final results back, which will be probably around January sometime. But she was very confident in her assessment of the girls and was very knowledgable with what they are going through. I could write another whole post on her explanation of how food is involved, but I'm not sure I could even explain the science behind it so I will simply say the girls have an auto-immune type response to the process of eating/digesting complex foods, not to any particular food, so they will probably remain on this elemental diet for the rest of their lives.
We don't know how long that will be. We don't want to know. Audrina is the most concerning as respiratory distress typically doesn't occur until things have worsened seriously. We already knew in our hearts that whatever 'it' was, was robbing us of them slowly, so I'm in no hurry to have a timeline for the progression. I will love them everyday gladly as long as God gives us. We know that despite finding this wonderful and brilliant doctor, we have an ultimate Physician who knows their every breath and no prognosis is above God's plan. So we will continue to pray and do our best to keep them healthy and safe. I will share more information as we get it.... thank you so much, all of you. For your prayer, support, and everything you do to keep us inspired. Share it. Keep following our story. These girls are going to change lives - I believe that above all else.