Well folks we are off to the races! Our lives just got very exciting and action packed after a very long time of waiting. Of course we don’t know anything officially about Abigail’s diagnoses, but chances are looking better than ever before that we will know something soon. I can’t give a lot of detail simply because I don’t have a lot of details to give. The doctors want to run a muscle biopsy on Abigail before they give us any official diagnosis or answers. They are hoping the biopsy will reveal the answers they need to complete the puzzle of sorts, which would also be known as my daughter.
We had a whole exome study done of Abigail’s genes last year. Out of every single gene there was one that was mutated, as they call it. That one mutated gene is the gene that affects muscles, and would explain a lot of why Abigail is the way she is. However, since all her other tests have been normal they would not give us a diagnosis or put a name on anything for us. However, we completed an ultrasound and another EMG last week (it’s a test where they stick little needles in Abigail’s muscles and test how they respond to stimuli – it sounds a lot worse than it is), and the doctor said he definitely saw effects of that mutated gene. Hence why we are going for the muscle biopsy to prove what he saw was right. If the muscle biopsy agrees with all these findings we may just get a diagnosis three years later!
Of course this diagnosis won’t change anything for Abigail. Especially since it seems to be genetic there’s no fixing it. Therapy and working with her will be her best forms of medicine, and she’s already improving so much we aren’t too worried about her. Of course she will have to fight to do everything. Things won’t come naturally like they do for most children because her muscles are essential diseased. But if anyone can overcome the odds then Abigail can. I know we will have lots of information to take in and questions for the doctors when a diagnosis does come, but even if their prognosis is that Abigail won’t be able to walk I don’t think I will be able to believe them. In just two days of having leg braces, she is already standing better! I think that girl can do anything if she wanted to.
Of course we realize that this muscle biopsy won’t be easy. They will be removing a piece of Abigail’s left bicep, and we have yet to hear all the details. And we also understand that the biopsy could come back clear and we would be back to square one with Abigail just being a puzzle to figure out. But we are praying for some answers. We are praying she continues to grow strong and improve. We are praying for wisdom for our doctors. And we are praying that Abigail will fight hard, and show people that she can overcome any obstacle!
We are so proud of her and her determination! She is such a trooper through all this. Poor thing has been dragged around from doctor to doctor. She has undergone a lot of scary looking tests. She has been fitted for equipment. And there has been a few tears along the way, but mostly just a lot of smiles. I love her happy little personality and I am glad she can smile through it all. She helps us feel better about all this because we know she is strong and it takes a lot more than some scary diagnosis to get her down! So we are off to the races to fight, to get some answers, and to show a little joy in this world.