A rare genetic disorder known as Sanfilippo syndrome, often called “Childhood Alzheimer’s,” is robbing a South Florida 9-year-old of her abilities and her future.
The progressive brain disorder, which causes children to lose speech, mobility and memory, has no cure and families like Sara Ruiz Montoya’s are left clinging to moments while advocating for awareness, early screening and research.
When Carolina Montoya sees her daughter laughing on the trampoline or reading books, she holds onto those moments tightly. Sara’s parents know each memory could be one of the last.
A rare disease that mimics Alzheimer’s in young children
Sara was born full-term, but early signs, frequent infections, digestive issues and developmental delays raised questions. Her mother’s persistence led to a diagnosis at Nicklaus Children’s Hospital, where geneticist Dr. Parul Jayakar recognized the signs immediately.
“It’s related to a missing enzyme or a faulty enzyme,” Dr. Jayakar explained. “And what happens is because this enzyme is missing, it doesn’t break down certain substances.”
Carolina said, “Because it has kind of the same consequences in the body, so it was someone that develops normally for a few years of their life. So Sara was a regular 3-year-old, kind of, and suddenly they start forgetting everything and they start losing all the abilities.”
Sanfilippo syndrome is fatal. Carolina recalled hearing her daughter’s prognosis: “If you read through all the MPSs, all of them are mortal diseases. 100% fatal. So she was almost 4, and in some of the MPSs, the life expectancy is until 6. So for me it was like, you’re telling me that I have 2 years with my daughter?”
Today, Sara’s life expectancy is closer to 15 years, but her condition is worsening.
“It’s pretty obvious lately that she’s coming to the last stage of her condition,” Carolina said. “She used to be a girl that laughed from the moment that she woke up to the moment that she went to sleep. Now you see sometimes that she complains, or she’s in pain, or she’s calm.”
At night, Sara sleeps in a safety bed. Children with Sanfilippo tend to sleep less as their condition progresses. Despite it all, her parents are focused on the time they have left.
“I say that their lives is like having trying to trying to grab water in your hand,” her father Alejandro Ruiz said. “You could try as hard as you want and you can grasp as hard as you want, it’s going to slip away anyway.”
“It’s important to be aware of this condition”
There is currently no cure or treatment and the condition is not part of newborn screenings. Clinical trials are rare, but two are underway, and Dr. Jayakar remains hopeful.
“I think it’s important to be aware of this condition because there are a lot of clinical trials available and soon I’m hoping there’ll be a treatment by the end of this year,” she said.
For the Ruiz Montoya family, awareness is vital.
“Even though there’s nothing to do… we try to advocate,” Alejandro said. “We still do any anything we can do to get a cure. Might not be for her, but so no one else has to go through this.”
