A mother was left devastated when her “perfect” baby girl was diagnosed with a rare condition known as childhood Alzheimer’s, after she noticed a striking resemblance to another child on TikTok.
Morgan Rachal, 29, and her husband Kirk, 34, were overjoyed when they welcomed their second daughter Lydia in October 2022. The couple, who also have a five year old daughter named Heidi, had no initial concerns about Lydia’s health.
Despite Lydia suffering from regular ear infections, constipation and sleep issues, Morgan wasn’t overly concerned, believing these were “all common things that babies have”.
However, everything changed when Morgan’s mother, Cindy Weaver, 55, came across a TikTok video of a little girl who looked identical to Lydia and shared the same symptoms.
This child had been diagnosed with a rare disorder called Sanfilippo syndrome.
Children with Sanfilippo syndrome often have full lips, heavy eyebrows that meet above the nose, or hirsutism, which is excessive hair growth. After showing the video to her doctor, tests confirmed that Lydia too had Sanfilippo syndrome B, reports the Mirror.
This rare genetic metabolic disorder, also known as childhood Alzheimer’s, causes children to lose all the skills they’ve acquired. At 20 months old, Lydia isn’t showing any signs of cognitive decline yet, but without treatment, this will change.
Morgan, a nurse from Natchitoches, Louisiana, US, is hoping to get Lydia on a trial, as there is currently no cure for Sanfilippo. She recalled: “The doctor said the words ‘she’s perfect’ when she was born. She was hitting all her milestones.”
After her mother stumbled upon a TikTok account highlighting the syndrome, Morgan began to delve deeper into the condition.
Morgan presented the video to her paediatrician, who concurred that there was a resemblance and referred Lydia for testing. Following blood and urine tests, results confirmed the diagnosis within a week.
Morgan expressed her turmoil: “When I found out I was in a really dark place.”
Subsequent analysis identified it as type B, stemming from a defect in the NAGLU gene. Morgan is now urgently seeking to enrol Lydia in a clinical trial, hoping for a breakthrough treatment.
She explained the gravity of the situation: “They call it childhood dementia. She won’t be able to walk, or talk. She won’t make it through the third decade of life.”
“Her joy right now will be taken away if she doesn’t get into treatment.”
Morgan credits the fortuitous discovery of the TikTok for the early diagnosis, which came before Lydia’s potential decline. She shared her relief: “I’m grateful we were able to get the diagnosis early. I wouldn’t have known until the brain damage started happening.”
Morgan is determined to increase awareness about the symptoms so that other children might receive an early diagnosis and to support research into a cure. She lovingly described Lydia: “She is a little ray of sunshine. She blows kisses. She is a little bundle of joy. She’s a normal baby.”
