Callie went to Duke today and we met with genetic counselors, a physical therapist and a genetic and metabolic doctor. We learned that genetics are pretty complex, so we’re unsure about whether to have our boys tested to see if they’re carriers for SMA. Also, the company who did Callie’s genetic test does not test minors who have no symptoms of SMA. There’s possibly one other company that may do the testing; we’re still waiting to hear from them.
We’ve learned that there can be a lot of overlap in the different types of SMA. Some are clearly Type 1, 2 or 3. You also find a lot of parents referring to their children as Type 1/2 or Type 2/3. The team at Duke thinks that Callie falls in the 1/2 category. This is based on the fact that her genetic test would indicate that she would be a Type 1 as well as the fact that she developed symptoms very early for a Type 2. But more importantly, they stressed that Callie is Callie. And we’re going to base her care on her condition as opposed to what “should” be happening. As one SMA mom told me, “Callie and her body will call the shots.”
The physical therapist was very skilled and encouraging. She told us that Callie is ready for power mobility. She’d like us to look into a wheelchair where she can actually lower herself to the floor while remaining in the seat. Callie also tried something called a Standing Dani–a motorized stander. And she loved it even though the battery was dead. The therapist pushed her around and Callie grabbed the joystick, thinking that would make her go faster.
One of our next big steps is getting Callie’s feeding evaluated. She’s having a swallow study this Friday to help determine if any of her food or drink is trying to get down into her lungs. The team also wants her to be seen by speech and occupational therapy. Callie has been known to hold food in her mouth and it could be because she’s weak or fatigued from eating. Or it could be that the consistency of some foods could be the problem. There’s also the fact that she hasn’t gained any weight, and has actually started losing some, for the last 6 months. I think that the possibility of her needing a feeding tube, at some point in time, is very real.
Another thing I addressed with the doctor is Callie’s temperature. She gets hot very easily, even when the room is cool. I’ve learned that SMA affects the autonomic nervous system, so that she has more trouble controlling her temp. This has especially been a problem this summer and Nathan and I are facing the fact that we may need a newer vehicle sooner than we thought. (Anyone who’s been in our van during the summer knows why A higher temperature just makes her work even harder to breathe, which isn’t something we want. Her circulation is also impacted, meaning that it’s not all that great in her legs. I’m not quite sure what we can do about this, if anything.
And last but not least, Callie is also being referred to an orthopedic surgeon. Spinal surgery is inevitable and it’s important to establish a relationship early on so she can be monitored.
Our trip brought some slight sadness–it was a reminder of how serious and fragile her condition is. But at the same time, it was very encouraging. The doctor was very impressed with Callie’s overall health. The key is to stay on top of everything and try to prevent problems before they start. The entire team at Duke was very compassionate and knowledgeable and I feel confident about the care Callie will receive as one of their patients.