The results of Makenna's blood test were delivered today. The whole thing is a little surreal. I had a phone call scheduled with the neurologist who ordered the confirmatory testing. She called promptly at 2:00 to discuss the findings. The test results confirmed that Makenna does indeed have HGPPS. It didn't come as a schock to me and I was already comfortable with that diagnosis; as soon as the researcher in LA told me the MRI was consistent with the findings, I pretty much accepted it. Having these results, though, makes it final. Although I've been saying for months that she has HGPPS, technically, I couldn't really say that because there wasn't conclusive data to support that - other that her MRI. Now it's all there. We have a diagnosis, we have a cause for the scoliosis and I have closure on my seemingly never-ending quest for answers.
When I was anticipating the call, my biggest fear would be that she would tell me the findings were inconclusive or worse yet, that Makenna didn't have HGPPS. Then we'd all be back at square one, and I'm not sure I'd last another round of all this drama. It's been time consuming, emotionally draining, and sent all of our lives into a whirwind that no one can anticipate or plan for.
We do still have the scoliosis to battle and that is where our focus will remain. It seems we are doing everything we can at this point. I think the most maddening thing about the scoliosis is that there are no definate answers. What causes it? How quickly will it progress? Will the curve respond to the casting? Is it beneficial to have a more flexible curve? If we gain correction now, what are the odds that it will persist at the next growth spurt? The answer to all of these questions is "We just don't know". This is a beast I wasn't prepared to fight. It has no limits or boundaries, no standards of progression, no definitive prognosis, no guarantee that what we are doing is going to work. As a parent, I just want to fix this for her. And I can't do that. I can't make it go away. I can't guarantee that she won't need surgery later; even though I wish with all my heart that we can avoid that. So that is the demon I still battle, and will continue to battle. But I have one less demon to battle now that we know what causes it. Many of my friends who are traveling this scoliosis journey with their children don't have the comfort of knowing what causes it. It's just plain idiopathic scoliosis. No rhyme, no reason. It just is. So I am absolutely grateful that we can now say "Makenna has HGPPS."