Sanfilippo Project: A Personal Journey

A Pennsylvania father shares his family’s journey with the rare disease—and launches an organization to establish community and awareness 

By Michael Dobbyn

[ORIGINALLY APPEARED ON SANFILIPPO NEWS]

Finding gratitude while my son fights Sanfilippo type C

There’s a powerful common bond shared between Sanfilippo families across the world, regardless of whether we’ve ever met. We share the all-consuming battle our children fight against a common enemy: the life-shortening disease called Sanfilippo syndrome, aka “childhood Alzheimer’s.” We’re left trying to figure out how to pick up the pieces of devastation it unleashes on our families and communities.

It’s not a club any of us planned to join, but as I’ve repeatedly learned (way too often by now), life often seems to rip a lot of plans to shreds. In April 2019, my oldest son, Connor, was diagnosed with Sanfilippo syndrome type C. It’s among the worst imaginable medical diagnoses a child (and his or her family members) can receive. It’s got to be in the Top 10, at least. The disease is ruthless and relentless.

Sanfilippo syndrome is a rare (1 in 70,000), genetically inherited disease that causes progressive, and often rapid, brain damage and cognitive decline. This is accompanied by a gradual or sudden loss of essentially all basic abilities over time: talking, walking, self-feeding, bathing, and toileting. Even breathing. You get the point.

All of this is due to a single missing or broken enzyme in the brain cells that’s needed to remove waste. It’s sort of like a broken vacuum cleaner in a kid’s fast-cluttering bedroom that desperately needs a cleaning, but never gets one. No vacuum cleaner, no waste removal.

This cognitive decline leads to physical deterioration and all sorts of other medical landmines, and the average life expectancy is teens to early adulthood. Yes, it’s really that horrific.

Fighting back with advocacy
A few months after Connor’s diagnosis, my family went public on Facebook with his harrowing Sanfilippo story by launching the Connor Beats Sanfilippo campaign under the fundraising umbrella of the Cure Sanfilippo Foundation. Because of the disease’s rare profile and thus the lack of profit potential for biotech and pharmaceutical firms, awareness and fundraising for clinical trials are essentially left up to parents to step in and lead, just as many, many Sanfilippo parents have done across the world.

Our campaign was later renamed Save Connor following the release of a three-minute film in October 2020, which became a powerful vehicle for our community in helping to raise awareness and money to one day, fingers crossed, fund a successful clinical trial for Sanfilippo type C.

Being part of that campaign and experiencing my own Sanfilippo parent journey over these past few years have been truly life-changing and have redefined my purpose.

On the day of Connor’s diagnosis, my grand vision for what my life was supposed to look like instantly shattered to smithereens. I remain shellshocked and have constant anxiety while orbiting the many questions, emotions, and feelings that will never, ever yield sufficiently comforting answers. My new normal is a perpetual state of fear, waiting for the next shoe to drop.

Gratitude: a surprising ally
What’s surprised me most is that I’ve come to feel a tremendous amount of gratitude for the path I’ve walked as Connor’s dad. Obviously, I’m not grateful for Connor’s illness. I would take the Sanfilippo out of his body and inject it into my own if that were an option, as would just about any parent in my shoes.

But I’m grateful for the privilege of holding Connor’s hand through his heroic life journey. Grateful for the warmth he shares with the whole world thanks to social media’s immense reach. Grateful for the platform this horrific disease has provided to my family, but especially to Connor, to leave our marks on the world and even inspire others to do the same. Grateful for the many people and organizations — restaurants, gyms, schools, Girl Scouts, you name it — who have embraced and carried us in more ways than I can ever adequately communicate. And grateful for the many examples of courage from otherwise ordinary people showing extraordinary perseverance when faced with life’s most harrowing challenges.

I’m still early in making sense of gratitude and anxiety coexisting within me, but what I do know is that my son’s many health challenges have forced me to realize the countless other beauties that I’d previously taken for granted — like comprehending a book’s plot, tying my own shoes, bathing myself, socializing with peers, and just making logical sense of the world. It’s hard to ignore your own good health and fortune when your child’s health slips away, day by day, with no way to stop it.

Gratitude can energize and uplift even in the face of crisis and demoralization. It can’t heal our pain, but it serves as a powerful ally in our Sanfilippo journeys as we face the dark unknown with hope.

Mike Dobbyn lives in Pennsylvania with his wife, Jenna. A Massachusetts native and proud Duke University alumnus, Dobbyn works in finance. Dobbyn’s oldest son, Connor, 15, has Sanfilippo syndrome type C—which has prompted Dobbyn to launch a community support and advocacy organization named the Sanfilippo Project.

The parents of Connor Dobbyn—Marisa DiChiacchio and Mike Dobbyn—are using this now-viral video called “Save Connor” in an effort to raise $3 million for a clinical trial for Sanfilippo Syndrome Type C that could save their son’s life.

The video was launched Oct. 16, 2022 during the Chelsea Film Festival. They are helping Connor race against this rapidly-degenerative disease that is impacting him more and more every day.