A mother thought her baby had inherited a facial feature from her dad, but was shocked to learn that it was actually a sign of childhood dementia.
Morgan Rachal, a mother of two from Louisiana, played a pivotal role in uncovering her daughter’s serious brain and nervous system disorder.
Rachal noticed that her 18-month-old daughter, Lydia, exhibited a few health issues common in infants, such as gastrointestinal problems and difficulty sleeping.
Lydia also had prominent eyebrows, which Morgan initially attributed to genetics from her father.
“Everyone always said, ‘She looks just like her daddy,’” Rachal shared in a TikTok video, featuring photos of Lydia's striking eyebrows.
The breakthrough came in March when Rachal’s mother sent her a TikTok video showcasing a young girl diagnosed with Sanfilippo syndrome, a severe disorder impacting the brain and nervous system, often leading to childhood dementia.
“I looked at it and I just saw Lydia's face in this child,” Rachal told PEOPLE.
Despite Lydia meeting all her developmental milestones, frequent ear infections, constipation, and sleep disturbances made Rachal push for more testing. “Those are all common things with babies,” she added.
Prompted by the video, Rachal took Lydia to her pediatrician a week later, showing him the TikTok and inquiring about genetic testing for Sanfilippo syndrome.
The pediatrician admitted he had never encountered the condition before. “He said he had never seen anyone with it, and had never even been asked about it,” Rachal recounted.
After conducting his own research, the pediatrician referred the family to another hospital for comprehensive blood and urine tests.
Following a tense week, the tests confirmed that Lydia had Sanfilippo syndrome.
The family was subsequently referred to a genetics specialist in New Orleans, who provided a glimmer of hope by revealing that the disorder had likely been caught early enough to prevent brain damage.
“They told us it hasn't affected her brain yet,” Rachal said. “It usually doesn't start affecting them until age three or four — that's when children with Sanfilippo start to regress.”
However, Lydia's future remains uncertain. She has Type B Sanfilippo syndrome, meaning she lacks a specific enzyme crucial for breaking down certain sugars.
There is currently no cure, but potential treatments include clinical trials for enzyme replacement and gene therapy.
“Those treatments could ultimately slow down the regression and prolong her life,” Rachal explained.
Currently, Rachal is navigating what she calls a “limbo period.” She remains active in fundraising efforts to enable Lydia’s participation in future clinical trials if she qualifies and uses social media to raise awareness about Sanfilippo syndrome.
“It's so rare that a lot of moms have told me their child was first diagnosed with autism because that's how it presents,” Rachal said.
“I hope that by sharing our story, we can bring awareness and ultimately that will lead to more research of the disorder.”
Reflecting on the crucial video, Rachal expressed gratitude for her mother sending her the video in the first place.
“If someone reaches out to you with concerns about your child, it's because they love you,” she said.
“Though it is a scary journey, I am glad my mom sent me that TikTok. I was able to advocate for my daughter and get the early diagnosis.”
We wish Lydia and her family all the best with her health in the future.
