Sanfilippo syndrome

Most people think of dementia as an illness that only affects the elderly, but one family is sharing the heartbreaking story of their daughter, who suffers from a childhood version of the debilitating condition. 

In 2020, Haidyn Fowler was diagnosed with Sanfilippo syndrome, a genetic condition that causes the entire body to deteriorate, leading to seizures, movement disorders, immense pain and discomfort and, eventually, the loss of bodily functions. 

The condition is terminal, with a life expectancy between 10 and 20 years.

Haidyn was born with the illness and, although seemingly healthy at birth, her body has slowly started deteriorating — leaving her in near-constant pain and unable to speak at only 7 years old, and with the mental capacity of an 18-month-old. 

“The best way to describe [Sanfilippo syndrome] is that it’s referred to as childhood dementia or childhood Alzheimer’s because it attacks the brain almost identically to Alzheimer’s

disease,” Haidyn’s mom, Carrie,told Good Morning America. “But it is more than just dementia or Alzheimer’s, because not only does it attack the brain, it attacks the central nervous system, and it deteriorates the entire body. 

“So anything that you think can go wrong within your body can happen with Sanfilippo syndrome,” she added, admitting that it’s difficult to look back at photos and videos of her daughter when she could still talk and walk unassisted. 

Haidyn has Sanfilippo syndrome, a neurodegenerative disease that is like Alzheimer’s in children. Right: She is shown with her mom, Carrie.haidynshope/Instagram

Despite that, Fowler said her daughter still “smiles, laughs, loves and enjoys life” and has inspired her and her husband, Caleb, and older daughter, Braelynne, to work for a cure for the awful disease. 

There is no FDA-approved treatment or cure for Sanfilippo syndrome at the moment, and the Fowler family holds fund-raisers to support further research. 

“She’s taught me so much, but definitely that it’s the little things in life that we take for granted the most,” Carrie told “GMA.” “We love a lot harder. And we fight every day to be really happy for her even despite all the heartbreak that we have to deal with too. We try to focus on being happy for her because she deserves that.” 

Haidyn was “seemingly healthy” at birth. Carrie said it’s hard to look back at photos and videos of Haidyn, now 7, when she could still talk and walk unassisted. Haidyn’s mother said that despite her condition, the little girl continues to “laugh and love. She is slowly losing her ability to walk and speak.

 

Fowler said they are raising awareness for the illness by advocating in their community and on social media. 

“Haidyn is who we are doing it in honor of, but we’re mainly fighting for kids in the future so that there can be a cure,” she said. 

“She fights so hard every day to keep going when most people would have given up long before, and I just … I’m proud of her, so I enjoy letting other people be proud of her.” 

https://nypost.com/2022/07/21/my-daughter-7-has-childhood-dementia-but-she-still-smiles-laughs-loves-life/

“Will’s just doing so well,” a well-intentioned person gushes to me. I smile, happy for the attention and recognition Will receives for his hard work. “I just see him up and walking so much more,” the person continues. “You can really tell he’s getting better!”

I maintain my smile and politely thank the speaker before excusing myself. I take a deep breath and internally sigh. Children with Sanfilippo syndrome do not get better. It’s a progressive, terminal condition with no treatment or cure. What the person is praising is actually part of the toll of the disease.

Very few people see Will daily, and even fewer people understand the reality of living day to day with Sanfilippo. In 2017, we had to purchase an adaptive stroller for Will because he had outgrown traditional stroller options. We paid out of pocket; our insurance at that time wouldn’t cover the stroller because Will was still “mobile within the home” (possibly the worst standard for coverage of a mobility aid, but I digress).

At the time, our desperate need for the stroller wasn’t dictated by his difficulty walking (although walking distances in the Texas heat was always a concern), but by a need for safety.

Will had to be watched constantly. He couldn’t be left unattended. He had no sense of safety and would dart out in a front of a car or put his hand on a hot stove with zero hesitation. Sanfilippo is characterized by extreme hyperactivity, especially in the early years, and it was both terrifying and exhausting.

Holding on to Will and keeping him safe was difficult, especially while also caring for his baby sister. He was strong and would pull and flail to get away when something caught his attention. Cognitively, there was no teaching him to listen and stay put; his brain literally could not comprehend the instruction. Strapping him into a stroller was one of the few ways to ensure he was safe so I could attend to Little Sister, answer a phone call, cook dinner, or even go to the bathroom.

Purchasing the adaptive stroller was both emotionally difficult (it was our first piece of medical equipment) and freeing. With it, Will was now able to stay in child care at my gym, meaning I could exercise while the workers read books and sang songs with him, safely stationary.

We could also do summer camps, with me as his aide, because I could more easily keep him focused on the camp activities instead of him constantly eloping after something that interested him. My husband and I worked hard to give Will the proper amount of exercise out of the chair to maintain muscles while acknowledging that having a safe place to seat him allowed Will more access to socialization and experiences.

However, that meant a lot of people only got to know Will in a chair, and in our society, people often equate chair use with a complete loss of mobility, as they lack awareness of the nuances of mobility aids and support devices.

Will turned 12 last month. Although individual expression of the progression of Sanfilippo varies, we do know the statistics, and we see the changes. Will is slowing down. He’s not constantly trying to elope, which means he can walk around more and sit in regular chairs without needing to be strapped in. While still requiring high levels of supervision, he will now rest on the couch and watch PBS Kids without running around, pulling down toys, and trying to climb shelves every five seconds.

Right now, he’s watching an episode of “Molly of Denali” while I type this at 10 a.m. on a weekday, a situation I would’ve thought impossible just two years ago, when my work time was relegated to 11 p.m. after he was asleep.

He’s changing. And while it may seem like life is getting easier because his behaviors are now less unpredictable, it’s also frightening seeing our ball of constant energy begin to burn out. We know our time is limited. Each moment he slows down reminds us that we are headed toward the inevitable that Sanfilippo brings every child.

So yes, he’s sitting more quietly at camps. And yes, he’s walking around more now. But it’s not because he’s getting better (and I’ll save the commentary on how being still, quiet, and controlled are ableist expectations for a future column). It’s because his body, every day, succumbs a bit more to Sanfilippo.

And although we hold no ill will toward the people who make the comments because they truly do care about our son, it’s difficult to hear praise when we know the truth: the “easier” it becomes to take care of Will, the closer we come to the heartbreak of losing him.

https://sanfilipponews.com/columns/as-my-son-sanfilippo-syndrome-slows-down-time-speeds-up/