Parents have taken to social media to share the hardship of raising children diagnosed with the terminal memory-robbing condition Sanfilippo Syndrome.
Sanfilippo syndrome is a rare genetic disorder that has been dubbed ‘Childhood Alzheimer’s’ because it causes children to suffer cognitive decline and lose all of the skills they have learned by the time they are teenagers.
There is no cure for the disease, and most of the children die by the time they reach their mid-teens.
Though it affects fewer than 5,000 Americans, a community of parents have formed support groups on social media sites like TikTok, hoping that sharing their children’s agony will help raise awareness.
In a viral TikTok video, Erin Stoop asks her daughter Olivia if she can say ‘I love you.’ Mrs Stoop breaks down as Olivia, who has Sanfilippo Syndrome, struggles to get the words out
In a November video, Erin Stoop tucks her four-year-old daughter Olivia into bed and asks if she can say ‘I love you.’
Mrs Stoop, 36, breaks down into tears as Olivia struggles to complete the sentence. After several attempts, she finally responds with ‘I love…me.’
Just months before the video, which has nearly 10 million views, Olivia had been able to speak in short sentences. Now, Mrs Stoop estimates that she will be completely non-verbal by the time she reaches first grade.
‘I didn’t expect her words to fade so quickly,’ the caption reads. ‘We expect full lost of words by age 6, and a life expectancy of mid-teens.’
‘We need a cure before it’s too late for Liv.’
Sanfilippo syndrome – also known as mucopolysaccharidosis type III or MPS III – is a neurodegenerative disease, meaning that cells in the central nervous system lose function and ultimately die.
The disease is inherited when both parents carry one copy of a defective gene that leaves the body unable to break down the substance heparan sulfate, a natural cellular waste.
Because the body can’t break down this waste, it builds up in the brain and other organs to toxic levels, killing off cells. This leads patients to lose all cognitive and motor skills over time.
There are roughly 50 subsets of the condition, and it often goes unnoticed or misdiagnosed as other developmental disorders like autism.
In addition to speech and developmental delays, according to the Cure Sanfilippo Syndrome Foundation, early symptoms include fast breathing after birth, macrocephaly (large head size), excessive body hair, hearing loss, and sleep disturbances.
Children with Sanflippo Syndrome also tend to have prominent, thick eyebrows and coarse hair, as well as full lips and nose.
Sanfilippo Syndome accounts for about one in 70,000 US births, and the life expectancy is 10 to 20 years old. There is no cure.
Nine-year-old Haidyn Fowler has lost her ability to walk and talk due to Sanfilippo syndrome
In a TikTok posted last year, Logan Pacl’s mother Noelle showed how the 16-year-old’s Sanfilippo syndrome has progressed
Mrs Stoop told Newsweek that Olivia was just like any other baby for the first two years of her life, minus being susceptible to infections and having abnormally lose stools.
It wasn’t until a family friend, who is also a pediatric neurologist, pointed out Olivia’s thick brows and unusual facial features. A blood test later revealed that she had Sanfilippo Syndrome.
‘Fortunately because of that family friend, we were able to rush our genetics appointment and order the right tests at the geneticist office,’ Mrs Stoop said.
‘I would hope the geneticist would have anyway based on Liv’s appearance and medical history, but it helped.’
Other families have also taken to social media to raise awareness for their children.
Carrie Fowler of Georgia documents her nine-year-old daughter Haidyn’s experience with Sanfilippo Syndrome to their 1.2 million TikTok followers.
Haidyn hit all of her normal milestones until she reached age three, when she started experiencing speech and developmental delays.
Haidyn was at first diagnosed with autism, sensory processing disorder, and global developmental delay. However, as she continued losing skills, genetic testing revealed Sanfilippo syndrome.
Haidyn has lost her ability to walk, talk, and eat without a feeding tube. She also suffers seizures and often goes days at a time without sleeping.
Mrs Fowler now provides updates on social media to raise awareness.
‘The day she was diagnosed with Sanfilippo Syndrome and we found out it was terminal, I promised her that the world would know her name,’ she said in a TikTok video last year.
Noelle Pacl of Washington state posted a TikTok in January showing how her 16-year-old son, Logan’s, Sanfilippo syndrome has progressed.
The first clip from 2011 shows Logan at around four years old waving his hands and trying to sing along to a song in the background with few words.
The next clip from 2014 shows him watching that older video of himself and singing along less clearly.
Finally, a 2023 clip shows teenage Logan watching that first video with headphone on, as he has lost much of his hearing.
He can no longer sing along, though he does try to move his mouth.
‘This disease can be heartbreaking to watch,’ the caption read.
