Leaning on advocacy and friends during a difficult time of the year

A columnist looks back at the hardships of her son's Sanfilippo diagnosis

Valerie Tharp Byers avatar

by Valerie Tharp Byers |

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

As February bleeds into March, which then bleeds into April, our family is caught up in a slew of emotionally taxing anniversaries. This month we … celebrated? Dealt with? Survived? Recognized? … that it has been eight years since we learned our son, Will, has Sanfilippo syndrome. It’s a weird series of anniversaries, and I’d be lying if I said we knew how we felt about each day.

The season kicked off on Feb. 26, the anniversary of learning about Sanfilippo syndrome. Back in 2015, I found a “Today” show article about a girl with Sanfilippo two days after it was published. While I was randomly reading that article, I was horrified to realize that all of Will’s quirks that seemed unrelated finally fit together in the context of this rare condition that I’d never heard of.

My heart broke as I called my pediatrician, who acknowledged it was rare but was willing to test for it. We held out hope that I was wrong (spoiler alert: I’m rarely wrong) and did the initial testing that would tell us if he had an MPS (mucopolysaccharidosis) disorder.

The test results came back on March 5. On that day, we learned that Will did have an MPS disorder. Although we were cautioned that it could be any of the MPS disorders, and we’d need further testing to confirm Will’s specific type, we knew it was Sanfilippo. It was too perfect of a fit to be anything else.

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Diagnosis Day

We consider this to be our Diagnosis Day — the day that our lives became divided into the “before” and “after.” Our days of innocence and naivete were over. We now knew the harsh reality of life that most only whisper about, fearing to breathe it into existence: Sometimes children will die.

It sounds harsh, but it was true. Facing the reality of your child receiving a terminal diagnosis changes your perspective. It’s not something happening to some unknown friend of a friend of a friend. It’s happening to you. You become a different person after that. Your life completely changes.

The anniversary of the full realization of our fears is April 7. This was the day that Will’s blood tests came back and confirmed that he had Sanfilippo syndrome type B. At that point, we’d already accepted what was to come, but now we had the specific name of what was stealing our son. Having the final detail didn’t make the journey any easier, but it did help us develop our action plan of what we would do next.

Each year, these dates roll around. They’re impossible to ignore, but we’ve found ways to survive them.

Post-diagnosis life

Remember when I said you become a different person after diagnosis? Well, it turns out that the people around you become different people after diagnosis, too. Some take a step back because they aren’t emotionally capable of grappling with the situation’s difficulty. Others step forward and become the support you rely on. Some step really forward (in our case, miles forward!) and become the people you know you can’t live without. It’s because of these people who step forward that we can make it through the anniversaries.

As I mentioned, our anniversary of learning about Sanfilippo was on Feb. 26. The reason the “Today” show published that article back in 2015 was because it was ahead of Rare Disease Day, which is recognized on the last day of February. If it’s a leap year, Rare Disease Day falls on Feb. 29. (It’s rare, get it?) In our post-diagnosis life, Rare Disease Day gives us a bit of a lift in the midst of these difficult anniversaries. Our supporters wear their purple WILLPower swag and send us pictures, reminding us that we aren’t alone as we begin the emotional slog through the calendar.

We also find that channeling our energy into something productive helps us focus our emotions during this time, keeping us from wallowing in the reminders of our grief over Will’s diagnosis.

We’re fortunate to both be a featured Charity Challenge participant with our local marathon, and that this event coincides with our anniversary schedule, with events spanning the last weekend of February and the first weekend of March. Helping Will train and fundraise for the kids’ race — 25 miles of running over the course of the season, plus the 1.2-mile Woodlands Marathon — as well as training for my own half-marathon and building a team of runners, fundraisers, and awareness raisers, takes a lot of energy. It’s an effort that, if not undertaken, could be siphoned into intrusive catastrophic thinking.

We’re so grateful this event falls where it does on the calendar, allowing us to channel our emotional upheaval into raising awareness for Sanfilippo syndrome research and giving some purpose to our pain.

The anniversaries will never be easy, but we won’t let them overshadow the time that matters the most: our time with Will.

A boy with Sanfilippo syndrome sits on a park bench in a wooded area; he wears a purple T-shirt that is the color to represent Sanfilippo awareness and advocacy, and he has two medals around his neck with the date of 2023. He smiles and looks straight at the camera, with his hands folded on his lap.

Helping Will train for his annual kids’ seasonlong marathon keeps his family focused during difficult diagnosis anniversaries. (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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