Mother Thought Her Child’s Bushy Eyebrows Were Just a Trait from Dad, Only to Realize It Was a Symptom of Childhood Dementia

Morgan Rachal had no reason to think anything was wrong with her 18-month-old daughter. Lydia had a few typical baby health issues—such as ear infections, trouble sleeping, and constipation. Otherwise, she was a happy baby with prominent eyebrows inherited from her father, Morgan had assumed. Then she came across a video on TikTok featuring a little girl diagnosed with Sanfilippo syndrome, also known as childhood dementia, and her eyebrows looked just like Lydia’s.

A sign of childhood dementia

Sanfilippo syndrome is a rare but terminal genetic disorder that’s also called childhood dementia. Children born with it tend to develop normally until they begin to regress, lose their motor skills, and pass away before adulthood. A mother of a little girl with this syndrome posted about it on TikTok, trying to spread awareness about the condition. That when Morgan’s mother noticed it, and sent it to her.

“I looked at it and I just saw Lydia’s face in this child,” Morgan says. “I had never thought anything was wrong with her before; she met all her milestones. She has had frequent ear infections, constipation issues and she has sleep disturbances. But those are all common things with babies.”

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Diagnosed with Sanfilippo syndrome

However, she couldn’t ignore the video. So she showed it to Lydia’s pediatrician a week later and asked how to get testing done. “He said he had never seen anyone with it, and had never even been asked about it,” Morgan says.

However, after further research, the pediatrician sent the parents to another hospital for blood and urine testing. After multiple tests and “a week of nerves,” Lydia received the diagnosis of Sanfilippo syndrome. After this, she was seen by a New Orleans-based genetics specialist, who said the disorder hasn’t progressed much.

“They told us it hasn’t affected her brain yet,” Rachal says. “It usually doesn’t start affecting them until age 3 or 4 — that’s when children with Sanfilippo start to regress.” Although her prognosis is unclear, there is no cure for this disease. Because there is so little known about the disorder, there are few treatment options and they are still rather experimental. 

Read More: 15 factors that may raise risk of getting early dementia, according to study

What is Sanfilippo syndrome?

The disorder affects babies’ metabolism, making them lack a certain enzyme that eliminates a type of cellular waste in the body. Therefore, the waste builds up and impedes proper functioning in the brain and nervous system. That’s why children affected show no signs at first, but the symptoms slowly appear and worsen. 

The first stage may be accompanied by digestive issues, frequent infections, trouble sleeping, behavioral issues, and developmental delays. Many children are incorrectly diagnosed with autism or ADHD at this stage because the syndrome is so unknown. The second stage involves childhood dementia, hearing loss, and seizures. In the final stage, children aren’t typically able to walk, eat, or speak on their own.

“The worst day of my life”

A month after the diagnosis, Morgan opened up about the situation on social media. “Thirty days ago was the worst day of my life so far. Though I still had her existence, my heart shattered as if I had lost her. I only lost the life I planned for her. The dance recitals, her childhood, softball tournaments with her sister, proms, wedding, watching her become a mom. We all have this ‘“‘what it’s supposed to look like’ outlook in life. When really, we never know when their health will change, or when God decides to take them home with him.”

She adds that she worries about how the news will affect her four-year-old daughter, Heidi. “One of the hardest days of my life will be when I have to tell my oldest daughter that her little sister has a terminal illness.”

Living with childhood dementia

In the meantime, Morgan and her family are in limbo. The young mom of two has become active in fundraisers, raising awareness of Sanfilippo on social media, and trying to get Lydia approved to join in future clinical trials. 

“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 says. “I hope that by sharing our story, we can bring awareness and ultimately that will lead to more research of the disorder.

“I’m glad my mom didn’t wait to send me that video. If someone reaches out to you with concerns about your child, it’s because they love you… 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.”

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