When Morgan Rachal, 29, spotted a TikTok of a child with Sanfilippo syndrome on TikTok, she noticed a striking resemblance to her daughter, Lydia, now 20 months old.
Although the baby seemed healthy aside from the odd bug or sleeping problems, she shared a number of similarities with another little girl who has the rare genetic condition.
Sometimes referred to as childhood Alzheimer’s, Sanfilippo can show physical indicators such as full lips and heavy eyebrows that meet above the nose, or hirsutism, which is excess hair growth.
After looking through TikToks with her mum, Cindy Weaver, 55, Morgan showed the videos to her doctor, and following tests Lydia was diagnosed with Sanfilippo syndrome type B.
Morgan, a nurse, from Natchitoches, Louisiana, says: ‘The doctor said the words “she’s perfect” when she was born. She was hitting all her milestones.
‘Then my mum came across a TikTok in March called Saving Liv and mentioned the girl looks just like Lydia.
‘They looked just like twins, so I started looking more into the syndrome.
‘It was the worst day ever [when Lydia was diagnosed]. It’s heartbreaking.’
Symptoms of Sanfilippo typically manifest from around two to six years old, and start with slowed development and sometimes behavioural problems before progressing into intellectual decline, severe dementia and progressive motor disease. The life expectancy of an affected child may also be limited.
Lydia currently isn’t showing any signs of cognitive decline but will if she doesn’t receive treatment. While Morgan hopes to get her into a trial for these experimental medicines, sadly, there’s no cure.
The mum-of-two and her husband Kirk, 34, a contractor, welcomed Lydia in October 2022, and the parents – who also have Heidi, five, together – had no concerns about her health.
Morgan says: ‘She had frequent ear infections. She was constipated. She never slept through the night. It was all common things that babies have.
‘I wasn’t looking at anything wrong. I was never worried about anything.’
But when she discovered the condition via social media and spoke to the family’s paediatrician, within a week Morgan was told Lydia had a defect in the NAGLU gene.
‘When I found out I was in a really dark place,’ the mum says.
‘But they don’t start to regress until aged three or four, and she knows about 20 words. She’s the happiest baby.’
Unfortunately, Morgan knows this will start to regress unless they are accepted onto a clinical trial.
She comments: “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.’
Thanks to the early diagnosis, which Morgan credits to TikTok, there is still hope.
‘I’m grateful,’ she adds. ‘Otherwise I wouldn’t have know until the brain damage started happening.’
The family also hopes to give others the chance to spot symptoms as early as possible, raise awareness of the condition, and fund research for a cure.
In the meantime, they’re enjoying every moment they have with their child.
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‘She’s a little ray of sunshine, and she blows kisses,’ says Morgan. ‘She’s a little bundle of joy – a normal baby.’
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