An ethereal portrait of freshman Reagan McKenzie in his mother’s wedding dress captures a bittersweet moment in time.
Erica McKenzie organized the photo shoot because she knows Reagan is getting a little further away every day. She will never see her eldest daughter, 7, marry in the dress she so lovingly kept.
McKenzie knows she and Reagan will never have a girls’ weekend with makeovers and pedicures. She will never attend her prom or her graduation. In fact, Reagan — like other children born with Sanfilippo syndrome — is statistically unlikely to live to see much, if any, of his adolescence.
There is no known cure for the disorder, one of 70 under the umbrella term ‘childhood dementia’. Children with Sanfilippo experience cognitive decline, as well as behavioral and mood changes. They regress, losing their ability to feed, walk and talk.
Sanfilippo is an extremely rare inherited metabolic disorder that currently affects only five children in the state of Georgia. Overall, one in 70,000 children is born without the enzyme responsible for removing cellular waste from a large, complex sugar molecule called heparan sulfate. The buildup eventually shuts down every biological process, and people with the disorder typically die before they reach their mid-teens.
“The best way I can describe it is this: You just bought a brand new house and you have all the utilities installed,” McKenzie said. “The only thing you haven’t gotten is trash removal, and you can’t go back and add it. So every room starts to fill up with trash and eventually every room gets doomed.
Parents’ hopes and dreams for the future are replaced by anticipated grief.
“Sometimes it’s worse than the thought of losing her,” McKenzie said. “I mourn the person I want her to be.”
McKenzie and her husband, Kirk, have two other children: son Garrett, 10, and daughter Ava, 1.
“The disease is cruel, and not just for the child who has it,” McKenzie said. “My son watches his sister die every day, and my one-year-old son will never know his sister is otherwise.”
Always the same little girl
It’s a stark diagnosis, but it hasn’t robbed Reagan of his joy yet. She is a really happy child, according to her mother.
“She has the innocence not to understand what’s going on with her,” McKenzie said. “She is always happy.”
Despite bilateral hearing loss, Reagan loves to sing “If You’re Happy and You Know It” and “Itsy Bitsy Spider”, parts of which she repeats over and over when she gets too excited. She loves watching YouTube Kids on her iPad, and she also loves “Elena of Avalor” and the “Frozen” movies, but “Moana” is her favorite.
She likes to be around people, her mother said as she greeted them with “Hey!” upon their arrival and confirming their departure with “See you tomorrow morning!
Some of what she learned at age 4 is starting to slip away. McKenzie estimates that Reagan retained 50 to 80 words in her vocabulary, but she loses things like full nursery rhymes and Disney songs.
Due to the damage Sanfilippo is already doing to her brain, Reagan doesn’t understand “soft” and often hugs too hard, McKenzie said, and she also has occasional bouts of aggression, hyperactivity and insomnia caused by trouble.
Because she remains mobile and has a tendency to flee, Reagan wears a ski training vest with a handle when out of her wheelchair. And she’ll probably wear diapers for the rest of her life.
“Trying to teach her new things is hard when she’s not able to retain what she knows now,” McKenzie said.
But in many ways, Reagan is the same little girl she was four years ago when she was first diagnosed with Sanfilippo.
“She literally wakes up and lives her life to the fullest every day,” McKenzie said. “She does the things that make her happy. She is a lively child. She is so full of love and she always has a sparkle in her eye.
Reagan’s professor agreed.
“I love working with Reagan,” said Jessica Nauris, who works with the Canongate Elementary School freshman. “She truly is an amazing little girl. Despite the challenges she faces, her bright personality always has a way of shining. Reagan finds joy and comfort in those she works closely with, and we have learned a lot from her.
“The impact she had on me, both personally and professionally, cannot be summed up in words,” she added.
The diagnosis that changed everything
It was the former McKenzie boss who first confirmed his fears that something was wrong with Reagan. The toddler had “kind of reached milestones, kind of missed milestones” and suffered from numerous ear infections. She failed a hearing test at age 3, but continued to hit plateaus in speech therapy even after being fitted with hearing aids.
An eye doctor McKenzie had worked for asked if Reagan had been genetically tested, and McKenzie said no.
“She said, ‘Go call right now. Her facial features bother me,'” McKenzie said.
Children with Sanfilippo syndrome typically have coarse facial features, a low nose bridge and bushy eyebrows, McKenzie learned, and the Emory geneticist they saw took a picture of Reagan in a smartphone diagnostic app to speed up the process. McKenzie said she knew there was a possibility the news might not be good, but it turned out to be devastating.
“They called me at work and said, ‘I’m so sorry, but your child has Sanfilippo syndrome and unfortunately there’s nothing we can do about it,'” McKenzie said. home and love it.”
Clinical trial offers hope
After falling into a “deep, deep depression” following the diagnosis, McKenzie said she decided to leave her burden to God.
“I actually didn’t get mad at God,” she said. “I said, ‘Show me what you want me to do with this.’ And he did it tenfold.
A positive side effect of Reagan’s relatively quick diagnosis was the opportunity to participate in a clinical trial in Barcelona, Spain. Few clinical trials are offered in the United States, where funding is virtually non-existent. Even if they were, most trials will not accept children older than 5, and the diagnosis of a child with such a rare disorder often occurs outside of this window.
But Reagan, his mother and grandmother are going to Barcelona on September 17 for a week. This will be the sixth time the little girl has undergone a procedure in which doctors inject an artificial copy of the missing enzyme directly into Reagan’s brain in hopes of slowing her regression.
Travel is difficult. Flights last 8-10 hours with what McKenzie describes as “a 65-pound 2-year-old.” Barcelona Hospital is in a suburb with few shops and restaurants, so she needs to make sure she packs enough nappies and other essentials to last the entire trip.
Reagan’s meals are another problem, especially in a foreign country with unfamiliar foods and few fast food outlets offering chicken nuggets and other foods she will eat. McKenzie has to order McDonald’s from UberEats, whose delivery people usually deliver by bike, requiring them to walk up the steep hill to the hospital.
But it seems to be working, according to graphs that track the milestones of healthy children compared to those with Sanfilippo.
“She’s regressing at a slower rate than usual,” McKenzie said.
A mother’s purpose
In the four years since diagnosis, McKenzie not only gave birth to “miracle baby” Ava and continued to support Garrett’s involvement in travel baseball, but also became something of a volunteer advocate and guide for families of other children newly diagnosed with Sanfilippo syndrome. .
“I feel like my goal now is to pour my heart and soul into raising awareness,” she said.
She recently teamed up with other Sanfillipo families and the Cure Sanfilippo Foundation on TikTok for the “TikTok For a Cure” campaign to raise awareness for the disease, raising $20,000 in the first 24 hours.
The Cure Sanfilippo Foundation is a nonprofit organization that funds research and supports treatments such as gene therapy, enzyme replacement, stem cell therapy, inflammation reduction, and FDA-approved drug testing for the treatment of Sanfilippo in children of all ages and stages of disease progression. .
“Now when we say ‘Sanfilippo syndrome,’ people say, ‘I heard about it on TikTok,'” McKenzie said. “We want to continue to raise awareness because it’s such a rare condition, and we don’t want other families going through the pain of hearing, ‘I’m sorry, but your child has Sanfilippo syndrome, and it’s terminal. ”
(For more information, visit https://curesanfilippofoundati… .)
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All photos courtesy of Erica McKenzie
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