And the muscle biopsy is NORMAL! Yup. You heard that right, NORMAL!! Truman does NOT have muscular dystrophy or any of the diseases in the muscular dystrophy spectrum. Whoot. Whoot!!!
I got the call later yesterday and it was Truman's neurologist, Dr. LePicheon. When I realized that it was the doctor that called my whole world just stopped. My eyes went dark and my stomach was in a giant knot.
The only reason that the actual doctor would call is if there was bad news. They don't want the nurse to call and drop a bomb on parents and not be able to answer questions immediately.
So, I heard his French accent and everything fell away. My brain was screaming with everything that I had feared the most. Until I heard the word normal and I was brought back to reality. I had to tell him to start over because I had missed everything he had said.
The muscle biopsy was normal. We are still waiting on two more tests...one is genetic and one is for mitochondrial something or other. I don't really understand these particular tests...but they should be back in the next 2 weeks. He chose to call us personally to let me know that he was not going to give up on Truman. He wanted to explain that we might not have found an answer yet but he was going to keep trying to find one. He really is an amazing doctor and we are so lucky to have found him. We talked a bit about the next steps but basically we are still in a waiting period for these next two tests to come back. The results will send us in a new direction either way. If it shows something irregular we will be going down that path but if it doesn't show anything we are going to have to start from square one and redevelop a plan.
There is a part of me that keeps thinking we are just "missing" some clue that is going to make this all make sense. That if I just said the right word or remembered the right symptom at the right time with the right doctor then it would be a magic moment of understanding and suddenly it would all make sense.
But for now we celebrate a negative muscle biopsy. What a great Easter weekend surprise.