Even more letters and numbers

Remember a while back when I talked about the genetic testing, all of those letters? Lama1 and TTN. And hubs and I were going to get tested as well to see if we had those same VUSs (variances of unknown significance)? We got the results back and it turns out that I do indeed have the same variances. And I’ve never had gross motor or speech problems. Well, except for the lisp I had until fourth grade. Thanks mom and dad for waiting to start the speech therapy. I’ve been told it was cute.

So what does this mean for Jojo? It means we can say with certainty she does not have a genetic disorder. When I heard this I felt immediate relief. Later that night, long after we’d left the doctor’s office, I started feeling anxious. I’d gotten on an evening flight to LA for meetings I had the following day. I called hubs when I landed, realizing I felt an overwhelming need to be home with him and our sweet little cherubs. We didn’t really discuss the appointment and results much because they were so positive and we didn’t have time. By evening my mind led me to: if not a genetic order, than what? And if the answer is truly nothing, there is no root cause, it is just benign hypotonia, what if all this therapy doesn’t get her to walking and talking? Ever? For the first time, I imagined Jojo as an adult who couldn’t live independently.

Back to the doctor appointment for a minute. After discussing the genetic results, I asked Jojo’s neurologist a question that has been rolling around in my head for a while but had never been able to articulate. Is Jojo’s low muscle tone a problem in the muscles themselves, or in her brain talking to her muscles. Her neurologist nodded her head and said yes, that is the million dollar question. Guess what though. No answer. So that led us to our next step. Jojo should have an MRI to have her brain and spine looked at. There are no concerns or indications that Jojo has brain or spine damage. It is a low probability scenario that we’ll rule out.

She is going in on Tuesday. The MRI and anesthesia are perfectly safe and our hospital is amazing. It will be a hard day as Jojo has to fast starting at midnight the night before. I can just imagine in the morning when we don’t give her milk or breakfast. She’s going to be pissed. And then when we roll into the hospital? It will be bad. I’m taking the entire day off work so I can snuggle with her all day long.

So why did my mind go there? Imagining Jojo at 20 years old, living with us in a wheelchair? That has probably been lurking under the surface of my consciousness all along and has been too painful for me to handle until now. The brain is such an amazing thing, it protects us. So maybe now I’m strong enough to handle that possible future. And it is freeing to consider all possible futures with our little Jojo no matter what they may be. Because the truth is, they will all be perfect with that angel.