‘Her little body is dying’

A woman who was told her baby was “perfect” by doctors after birth later learned her daughter would likely not live past 20 years old after a TikTok video helped her discover her daughter’s diagnosis.

Morgan Rachal from the US was blissfully enjoying family life with her husband and two young daughters when she received the video in question from her mother. It showed a young girl named Olivia who has a terminal illness known as Sanfilippo Syndrome — and the striking similarities of Olivia to Morgan’s youngest daughter, 18-month-old Lydia, felt like a “gut punch.”

“I started researching more on the disease, with symptoms that went along with it,” Rachal wrote online. “I found frequent ear infections, sleep disturbances, distended belly, gastrointestinal issues, and prominent thick eyebrows, which were all the symptoms Lydia had.”

Heartbreaking diagnosis confirmed: ‘Her little body is dying’

After contacting their doctor who conducted tests, it was confirmed Lydia did indeed have the rare genetic disorder. Sanfilippo Syndrome is often called childhood dementia and early signs of it are apparent from changes in facial features.

“That exact moment was the worst feeling of any day I have ever had on this Earth,” the mum detailed online. “My heart sunk, I felt like I couldn’t breathe… Her little body of hers is dying.”

TikTok helps little girl receive early diagnosis

Thanks to the TikTok video and subsequent paediatrician’s diagnosis, Lydia was diagnosed early before a regression began, which usually occurs at age three or four.

There is no cure or treatment for the disease, however, clinical trials provide hope for families who face uncertainty. The Rachal family are now desperately trying to scrape money together and started a GoFundMe page in the hope of funding a clinical trial.

“This is 100 per cent fatal. WE NEED A CLINICAL TRIAL before this starts to damage her brain,” her mother pleaded on the fundraising page.

Up to 100 Aussie children live with Sanfilippo Syndrome

The exact number of Aussies living with the disease is unknown but the Sanfilippo Children’s Foundation believes between 75 and 100 children live with it in the country. Sanfilippo is considered a rare disease with 1 in 70,000 children born with the inherited condition across the world.

Those who have the disease are missing an enzyme which breaks down sugar molecules and, without it, toxic waste builds up in their bodies. As the years go by and more toxin builds up, it starts impacting the individual’s brain, causing damage which impedes their ability to walk and talk, as well as many other body functions.

The family is terrified of what this means for their daughter.

“A parent’s love is like no other. If you are a parent, you understand,” Morgan wrote.

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