With Sanfilippo Syndrome, Small Victories Mean More Big Decisions

A columnist realizes she must start planning for her son's future

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by Valerie Tharp Byers |

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“He’s doing fantastic,” our geneticist gushes at our son Will’s yearly evaluation. “His mobility, his muscle tone … really, for 12 years old and his mutations, you couldn’t hope for better for his condition right now. I don’t think there are any other specialists he needs to see or any tests I want to order right now.”

We smile. Any win we can get while raising a son with Sanfilippo syndrome is one we’ll gladly take.

“You already know to start working toward his guardianship when he turns 16, right?” she asks. “Better to start the process early so that you’re ready for when he turns 18.”

“Yes, we’ll be working with his pediatrician when we get closer to that. She’s been very proactive and helpful in explaining that to us.”

Our geneticist smiles. “Excellent! Well, then the only other counsel I have is, with him doing this well at this age, you may want to start looking at long-term care options. There are different types of programs and facilities, so you’ll want to start researching what’s available, what the cost is, and if there are any waitlists you need to get on. Things could change, but you’ll want to be prepared.”

My husband and I look at each other, eyes wide. Long-term care?

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How Do You Prepare for an Unknown Future With Sanfilippo Syndrome?

When we were handed the diagnosis of Sanfilippo syndrome, long-term care was the last thing on our minds. Instead, our brains focused on the fact that we’d basically been handed an expiration date for our child. His terminal condition flooded our minds with questions: What can we do now? How can we make memories now? What experiences do we want our child and family to have now? We lived in the moment because thinking about the future was too much to process.

But I guess it’s time.

Planning for the future

In our own way, we have been preparing. We continue to push and fight to do right by Will so that he has the highest quality of life possible. We think we’ve tipped the scale in our favor for him to continue to receive his full therapy regimen (fingers crossed). His school was supportive during his ARD, or admission, review, and dismissal process, and continues to provide him the services he needs. The results from his recent swallow study ended up being even better than his 2019 evaluation. He’s still eating by mouth and gaining weight. He’s still so very happy. He’s still here.

But each of these small victories means more big decisions.

As Will ages, we will have to continue to face the realities of living with his condition. Although the life expectancy of the average person with Sanfilippo syndrome is reported to be in the mid teens, there’s no hard or fast rule as to when Will’s abilities will decline to the point we need substantial outside care. It could start next week or it could start in five years. We don’t know.

What we do know is that he’s doing very well right now. We know he can stay in his school’s developmental program until he’s about 21. We do know that, after he graduates, we’ll need to decide between in-home care, in-facility care, or a day care-style program based on his needs and what we can afford. We do know we’ll need a new one-story home and a wheelchair-accessible vehicle when he loses mobility, and in-home nursing as Sanfilippo continues to progress in each of his body systems.

We have to start planning for a future that our son may or may not actually have, which causes me physical pain when I ponder it. I worry that having a plan for Will’s future may jinx it, like I’m taking it for granted. It turns out that our mantra of “living in the moment” has actually been shielding me from the reality of “what happens next?”

A 12-year-old boy with Sanfilippo syndrome smiles while enjoying lunch at a restaurant. He's wearing a red T-shirt and a smartwatch.

After a successful appointment with his geneticist, Will celebrates with lunch at one of his favorite restaurants. (Photo by Valerie Tharp Byers)

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.


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