The results are in and they are surprising! Ryan tested positive as a carrier for Niemann Pick Disease Type C, but tested NEGATIVE for the disease. A carrier shouldn't be symptomatic. So the results are shocking.
So, how do I feel?
Surprised. Relieved. Disappointed. Happy. Confused. Hopeful. Exhausted. Thankful.
Have you ever had an undiagnosed condition? Went to the doctors ... or to multiple doctors only to be told they don't know what it is, or they can't find anything wrong with you? If so, you might understand those feelings.
I lived with severe fatigue and was in pain from about 2002 until sometime in 2010. I spent the first few years trying to explain to doctors the pain and the fatigue only to be told they couldn't find anything wrong. It was a hard experience and eventually I chose to learn to live with it. Thankfully, the source of the pain was eventually discovered and I am now pain free. (Whewhoo!)
I remember with great clarity the first day after years of pain that I walked up the stairs and didn't have pain. It was amazing. I remember the first time I went for a walk around the neighborhood with my kids and didn't come home feeling absolutely exhausted. I also remember the first I went to church and didn't come home feeling like I needed to go to bed for a week to recover from the 3-hour block of sitting up. It felt like I was alive again! I wanted to celebrate!
So, now I long for a diagnosis for Ryan. I don't know if he ever has pain. I don't know how long he'll live. I don't know what to expect from his condition.
I know none of us know what the road will bring or how long we'll have our children, but we have some ideas. When we have a newborn baby that is healthy we can anticipate when they will walk. We can anticipate when they will talk. We can anticipate when they will start eating solid foods. We can anticipate seeing them grow up to be adults.
There is a part of me that hopes for a diagnosis that says we will be able to treat his condition. Then we might be able to anticipate that he can walk, or talk, or eat by mouth again.
And, there is a part of me that fears that I won't be prepared for losing him and that hopes that with a prognosis I'll know what to expect. Maybe I'll be able to see the signs and then with those signs I'll be able to steel myself and my family.
I am thankful. Thankful that this is not his diagnosis. His prognosis would not be good with this diagnosis and no diagnosis is better than a poor prognosis. I continue to be thankful for the amazing doctors (and their families) who have sacrificed so much in the pursuit of their educations. I appreciate their friendships, their kindness, and their great intelligences. They all amaze me! And, as always, I am so thankful for all of you, my amazing friends and family. I am so blessed. Thank you for letting me share so honestly with all of you.