Callie had her swallow study at Duke today and all went well. She cooperated until the end, when she finally realized that something in her pudding and drink didn’t taste right (barium). She had not eaten for several hours before the study, so she gladly took whatever they gave her at first.

SMA weakens all muscles, including those that are used in swallowing. This can lead to aspiration–when food or liquids enter the lungs. A swallow study is an X-ray with barium that highlights the inside of the mouth and throat so the doctors can see where everything goes as the patient eats or drinks.

The speech therapist and doctor feel that Callie’s current diet isn’t putting her at risk for aspiration since we feed her a lot of soft foods such as yogurt and sweet potatoes. They recommended another swallow study a year from now; sooner if she develops feeding issues. The speech therapist also recommended using a sippy cup instead of a regular cup so liquids won’t flow into her mouth too quickly.

She will be evaluated by an occupational therapist in about a week to asses how she is doing with different kinds of foods and textures. She’ll also be followed by a nutritionist, who will address all the details of her diet, such as caloric intake and weight gain/loss.

Thanks to everyone for reading and subscribing. We also want to thank Paula and Angela, who kept all 3 of our boys during our trips to Duke this week.

Sometimes I almost forget Callie has SMA. Other times, I can think of nothing else. When she takes my earrings, puts them up to her own ears and grins, I wonder if she’ll reach 13–the age I’ve arbitrarily set as being old enough to get her ears pierced.

I’ve already accepted that she won’t walk. And I don’t mind that much. Some days, I feel certain that a treatment will be developed that can at least prolong her life. Other days, I think that’s a fantasy.

I look at Callie and can’t imagine life without her–the way she dances by nodding her head or by wiggling like a worm if she’s lying down; the way she shakes her head and says “No!” when she sees Peter coming to take her toys; her rendition of “Wheels on the Bus.”

Early in her diagnosis, I wondered to a friend why we couldn’t be a regular family–the people whose idea of a catastrophe is spilling coffee on their best suit. To which my friend replied, “But are they really the lucky ones?”

Not long after that, I was in the grocery store and saw a little girl about Callie’s age. She had some of Callie’s features and even had 3 older brothers like Callie does. I stood there, mesmerized. It was like visualizing a parallel universe in which everything that mattered in my life was fine. I watched her eat a cookie, turning this way and that.

I thought of Callie, who rides in a baby seat at the store because she can’t sit up in the cart for more than a few minutes. I noticed the girl’s sandals; I knew she walked. I thought of Callie, unable to move her legs. I watched the girl and her family walk out of the store. I thought of Callie. And thought it was possible that I was the lucky one.

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.

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This is our first blog that Nathan and I have created (if you don’t count that time we tried to rate every episode of Star Trek Voyager). We’re excited about having a site where we can keep people informed about our little girl and all things SMA. The site is brand new, built by Nathan, so we’re still working on some small details. But we’re happy that it’s finally ready to go. Soon we’ll have a “subscribe” option where you can be notified when there’s a new post. Thanks for reading.