A simple TikTok led Morgan Rachal to the tragic discovery that her toddler, Lydia, now three years old, presented most of the traits of Sanfilippo syndrome.
The Natchitoches native was heartbroken to receive the news confirming that her baby of only 18 months had a rare genetic condition, for which there is no cure.
“My mom sent me a video of a little girl who looked a lot like her. I mean they could have been twins,” Rachal said.
The mother in the video listed several symptoms associated with the disease, including ear infections, sleep disturbances and a distended belly, but these were also typical for healthy children.
Still, Rachal said she took Lydia to her pediatrician “because it was alarming to me that these kids looked exactly alike.” The doctor did not immediately diagnose the problem, she said, but quickly agreed to order a test.
Sanfilippo syndrome is a rare genetic condition that affects several body systems, mainly a child’s nervous system. It causes a variety of cognitive, behavioral and physical symptoms that get worse over time and lead to a premature death.
This condition is also known as “childhood Alzheimer’s” or “childhood dementia” as stated by Cure Sanfilippo Syndrome, because of its neurodegenerative nature and multi-system impact. This causes the child to regress and lose all the skills they’ve gained, along with causing them physical suffering.
The Cleveland Clinic describes Sanfilippo syndrome as “a deficiency in one of four enzymes that affect the breakdown” of a complex carbohydrate, causing it to build up in cells, tissues and organs.
Lydia’s treatment options are limited and costly. Rachal, along with 14 other families who are in a similar situation, are working with the Cure Sanfilippo Foundation to raise funds for clinical drug trials.
Their united goal is to raise $6 million dollars by the spring. As of now, they need at least $3.8 million by Dec. 1 to be able to start production of the treatments.
“$3.8 million is what we are trying to get right now. Lydia’s GoFundMe is at $1.3 million, and when we added it up last night with the families, we were at $2.6 million, so I think we have $1.4 million to go in 13 days,” Rachal said.
The goal for Lydia is to try to get her treatment before the disease affects her brain, which is expected to happen if she doesn’t get treatment by the summer.
The treatment involves placing a port in Lydia’s brain that will insert the enzyme she’s missing, Rachal explained. “It takes about six months, weekly infusions to wash out the toxic waste from the brain,” she said. “She should be able to go to a biweekly or monthly infusion once it’s out.”
The funds go directly to the Cure Sanfilippo Foundation, and once they receive all the money, they will write a grant to the pharmaceutical company that produces the treatment.
Rachal said recent studies show children receiving this treatment in a clinical trial reached normal levels of the missing enzyme. “So that’s why we are hopeful for Lydia that she will get it before significant brain damage starts,” Rachal said.
The drug that serves as treatment for Sanfilippo has existed for years, but funds for its creation ran out.
“The medicine has been around for years,” Rachal said. “It just has not made it all the way to the FDA approval process because of lacking funds.”
Although the efforts to raise money and awareness have been hard, the community support has been staggering to see—all united for the same cause, “Save Lydia’s Life.”
“It makes me speechless, honestly, and we will never, never leave this place because it is so special to us,” Rachal said, referring to Natchitoches. “We are going through such a tragedy and having so many people supporting you and at your back makes a huge difference.”
Thousands of people have come to know Lydia’s name through community fundraisers and the many stories shared about her. The support hasn’t slowed.
On Nov. 22, Northwestern State University of Louisiana will host the 2025 Fun Run for Lydia, with all proceeds benefiting the Cure Sanfilippo Foundation. The colorful event invites participants of all ages to walk, jog or run through bursts of safe, vibrant purple powder—all in honor of Lydia and Sanfilippo syndrome families.
Lydia’s love for chickens has inspired this event’s logo, which will be seen on the T-shirts and merchandise at the event.
“She is so happy, she loves clapping her hands. She gets excited. She loves playing with her older sister. She is your typical toddler. She loves chasing her chickens, that’s why there is a chicken on the fun run logo—she is just so happy. Seeing her happy has made us very humble in knowing that her body is attacking her and she is still the happiest baby that we know,” Rachal said.
Lydia’s joy serves as a reminder of her family’s determination. It’s what motivates them to continue advocating for her and reaching out for support.
“I’ve asked the world to send $16 because $6 million seems unattainable, but when you put it in perspective of each person just sending $16 or sharing her story, it’s much more achievable. Lydia was born on the 16th of Oct. Sanfilippo awareness day is the 16th of Nov. She was born at 8:08, which is 16 added up. She is also mentioned in the Book of Acts in Chapter 16,” Rachal said.
Your support can help Lydia and the other 14 families reach their goal. Just $16 can make a difference in their lives. Donate today for Lydia’s GoFundMe.
