When Morgan Rachal, 29, saw a TikTok video of a child with Sanfilippo syndrome, she noticed a striking resemblance to her own daughter, Lydia, then 20 months old. While Lydia seemed healthy, she shared several features with the child in the video, including full lips, heavy eyebrows that met above the nose, and excess hair growth, all potential indicators of Sanfilippo syndrome. Sometimes referred to as childhood Alzheimer’s, this rare genetic condition can cause slowed development, behavioral problems, and eventually severe dementia and motor disease. After sharing the TikTok video with her mother, Cindy Weaver, 55, and consulting her doctor, Lydia was diagnosed with Sanfilippo syndrome type B.
Morgan, a nurse from Natchitoches, Louisiana, recalls the doctor’s words when Lydia was born: “She’s perfect.” Lydia had been hitting all her developmental milestones. However, she did experience common baby issues like frequent ear infections, constipation, and sleep problems. It wasn’t until Morgan saw the TikTok video and began researching that she realized the seriousness of Lydia’s condition. “It was the worst day ever,” she says, referring to the day of the diagnosis. “It’s heartbreaking.”
The early diagnosis, attributed to TikTok, provides hope for Lydia. While Sanfilippo syndrome has no cure, early intervention is crucial. Lydia, who currently shows no signs of cognitive decline, could benefit from experimental treatments. The family is hoping to get Lydia into a clinical trial.
Morgan is incredibly grateful for the early diagnosis. “I’m grateful,” she adds. “Otherwise I wouldn’t have known until the brain damage started happening.” The family is also dedicated to raising awareness about Sanfilippo syndrome, hoping to help others identify symptoms early. They are actively seeking a cure for the condition.
Despite the challenges, the family is determined to enjoy every moment with Lydia. “She’s a little ray of sunshine, and she blows kisses,” says Morgan. “She’s a little bundle of joy – a normal baby.”
