When my son Merrick was little, I knew he was different.
He was always smarter than he could fully show us. He could name dozens of animals, had an encyclopedic knowledge of Monster Jam trucks and Pokémon, and could sit for ages completing 200-piece puzzles.
He knew all his letter sounds, but somehow couldn’t put them together to read.
He was bright, curious and social in his own way, but he struggled to communicate and navigate the world in the ways people expected.
By the time he was around four and a half, Merrick was diagnosed with autism and ADHD. He had speech delays, sensory needs and struggled with transitions. Sitting still was hard and social communication didn’t come naturally.
Getting the diagnosis was emotional and confusing, but after the initial shock, I told myself something important: he was still the same happy little boy.
The diagnosis helped in some ways. It gave us language for what we were seeing. It opened doors to speech therapy, occupational therapy, applied behavior analysis and school support. We threw everything we could at helping him thrive.
And yet, something never quite felt right.
I remember sitting in appointments, listening to professionals talk about Merrick and feeling like they weren’t seeing the full picture.
At one point, I even argued with the diagnosing doctor, who assumed I was in denial. I wasn’t. I wanted to accept the diagnosis. I wanted to do everything right for my son.
But I couldn’t shake the feeling that there was more going on. Then things started to change.
Around age five, Merrick began to regress. At first, it was subtle. Certain skills became harder. His language shifted. Tasks that once came easily—fine motor skills, focus, communication—began to slip away.
At the same time, the pandemic hit. Like so many families, we were isolated, cut off from support systems and routines. We were told the regression could be linked to that disruption. It made sense—on paper.
So we kept going. More therapies. More specialists. More searching.
Late at night, when I couldn’t sleep, I would find myself Googling questions no parent wants to ask: Why is my child losing skills? Is regression normal in autism? What am I missing?
Autism explained some things, but not the whole picture. Not the regression. Not the gut feeling that something else was happening to Merrick.
Looking back at old videos is still one of the hardest things I do. I used to watch them thinking, I know he can do that—I just need to find it again. Now I know some of those skills are gone.
In June 2024, we finally got an answer.
It came through a patient portal—clinical, impersonal, just another test result on a screen. Merrick had Sanfilippo syndrome.
I had never even heard the name before.
Sanfilippo is a rare genetic disorder, often described as a form of childhood dementia. It is progressive. It slowly takes away everything—speech, mobility, independence—and ultimately, a child’s life.
All the years of questions suddenly had an answer. And it was the worst one imaginable.
By the time Merrick was diagnosed, he was 10 years old.
Too old for the clinical trials we had been desperately hoping might help him.
That is something I struggle with every day. The “what ifs.” The guilt. The wondering whether we could have pushed harder or found answers sooner. I still don’t know what we could have done differently, but I carry it anyway.
Merrick is still here. He still understands me. I tell him “mom loves Merrick” multiple times a day. I hope—almost more than anything—that we can hold onto that connection for as long as possible.
Day to day, he needs constant support. He has a one-on-one aide at school and a team of specialists helping manage everything from his development to his neurological health. He is learning to use an AAC device to communicate.
But he is also still my son.
He is funny, affectionate and full of personality. He loves Transformers, Teenage Mutant Ninja Turtles, Pokémon and anything to do with Monster Jam. He wants to be active—riding his scooter, climbing, being outside, being with people who love him.
He is my favorite person in the world.
And yes—he can also be incredibly challenging. There are nights he doesn’t sleep for days. There are moments when his impulsivity means he lashes out. Both can be true at once: overwhelming and beautiful.
Right now, there is no cure for Sanfilippo syndrome. No approved treatment.
But there is hope.
A gene therapy called UX111 is currently going through the FDA approval process. We’ve been told Merrick may be able to access it if it’s approved. Every day, we wait. Every month matters. With this disease, time isn’t neutral—time means loss.
In the meantime, we’re doing everything we can to slow progression using what’s been learned from previous trials.
And I’m speaking out.
I want other parents to trust themselves. If something doesn’t feel right, ask more questions. Push for answers. Seek second opinions. Advocate—even when it feels uncomfortable.
I know how lonely it is to sit up at night searching for answers. I know the guilt of wondering if you’ve missed something. But parents often know when something isn’t right.
I also want people to understand that families like ours don’t share these stories for attention.
We share them because we love our children so fiercely that we will do anything to help them.
Awareness matters. Funding matters. Science matters. Inclusion matters.
This isn’t just about Merrick.
It’s about making sure the next family doesn’t have to wait as long for answers—and that when treatments exist, they reach children before it’s too late.
