My least favorite game as a Sanfilippo mom: Playing medical detective

Diminishing verbal skills makes understanding new symptoms difficult

Valerie Tharp Byers avatar

by Valerie Tharp Byers |

Share this article:

Share article via email
A banner for Valerie's column, depicting blue and purple swirls dancing across a night sky.

“Oh, no.”

That’s never a good thing to hear in our house. I pick up my pace as I walk to the kitchen, where my husband, Tim, is feeding breakfast to our son, Will, who has Sanfilippo syndrome.

“What’s wrong?” I ask, always fearful of the answer.

“He’s doing the not chewing, not swallowing thing again,” Tim responds.

My mom mode immediately switches to its “slight panic” setting. Despite an amazing swallow study in August, there was a period of time in November when Will, who had been eating normally and with gusto, just suddenly stopped. He seemed to get stuck in the repetitive nature of chewing and wouldn’t initiate swallowing.

We grew very concerned that Sanfilippo was stealing yet another skill from him and, worried about potential weight loss and nutrition deficiency due to slowed oral feeding, began researching feeding tube options. Then, one of Will’s baby molars fell out and he immediately began to eat normally.

“Maybe it’s his teeth again?” I surmise, not really knowing what else to say. Because we don’t know. We can’t know.

Recommended Reading
The words

Observational trial recruiting people ages 5 and up with Sanfilippo

Searching for answers

I touched on it a little bit last month, but Will’s loss of verbal ability due to Sanfilippo syndrome has been devastating. We miss his sweet voice and his jokes and his singing. But we also desperately miss him being able to tell us when something is wrong or if something is hurting. Losing communication means I now often have to play my least favorite special needs parent game: Medical Detective.

We listened to his chewing and noticed a bit of a grinding sound, consistent with what had happened in November. Tim tried to peer into Will’s mouth using a bite stick and ended up with a bloody finger when Will, annoyed with the examination, managed to bite down hard.

We decided to try softer, high-calorie foods with lots of liquid to help stimulate swallowing to see what would happen. I tried not to worry or to think of Sanfilippo progressing.

Then, Will’s sleep started to suffer.

We have lucked out in that, for a child with Sanfilippo syndrome, Will’s sleep is usually pretty regular. We’ve put a lot of work into maintaining his sleep schedule, and we all benefit from it. The downside is that, when he does have bad sleep, we’re not used to it, which leaves us all exhausted.

My mom mode upped its setting to “moderate panic.” Maybe his teeth were just making him uncomfortable and he was having trouble sleeping as a result? Yet now he was grumpy, agitated, and distant. Was it just tooth discomfort and lack of sleep? Or something more? Was it time to disrupt his schedule even more and take him to the doctors? But what would they even be able to do?

We treated him with over-the-counter pain medicine, which seemed to help. So we stayed the course, observing and gathering more clues.

After about a week of managing the slower eating, rough sleep, and overall tiredness and agitation, we noticed another symptom. When I went to pick Will up from school, I discovered he was having trouble walking. Then his legs gave out as I helped him into the car. An aide had to help me lift him in.

Thankfully, we had a physical therapy session scheduled that afternoon, so I immediately called his therapist to tell her what had happened, and begged for help in assessing him for any bone, muscle, or joint issues I might be missing.

My mom mode jumped to “full panic.” He’d never had mobility issues before. What was happening?

Our therapist noted that he was having trouble standing and that he was trembling. A full examination revealed no major issues, just very tight calf muscles. She spent a lot of time stretching and massaging, and I spent a lot of time worrying and fretting. Was it simply fatigue from lack of sleep? Was it neurological? Why was it happening so quickly?

We added daily stretching and massaging routines and saw some improvement. Each day, he acted a bit stronger and more like himself, and then suddenly, he was sleeping. He was eating properly, albeit a bit more slowly than usual. He was smiling and happy again.

A young boy sits on folded legs on his bed in his bedroom. He is wearing a Batman T-shirt and has his hands folded on his lap. He looks at the camera. On the wall behind him is an assortment of sports memorabilia.

Will finally gets a good night’s sleep after facing troubling eating and sleeping difficulties. (Photo by Valerie Tharp Byers)

We still have no idea what happened.

While we continue to monitor his symptoms, right now, my detective skills have all signs pointing toward a loose tooth that disrupted his carefully maintained routines, snowballing into larger issues. But who knows? We’ll continue to observe, gather clues, and look for patterns. We’ll do our best by him and just be thankful that this round of Medical Detective seems to have resolved itself.

Note: Sanfilippo News is strictly a news and information website about the syndrome. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Sanfilippo News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to Sanfilippo syndrome.


Leave a comment

Fill in the required fields to post. Your email address will not be published.