Parents of children with ‘childhood Alzheimer’s’ reveal the cruel reality of living with a rare condition that robs them of their memory and cognition by the time they are teenagers

Parents have taken to social media to share the hardships of raising children diagnosed with Sanfilippo syndrome, a terminal memory-robbing condition.

Sanfilippo syndrome is a rare genetic condition called “Kinder’s Alzheimer’s” because it causes children to experience cognitive decline and lose all the skills they have learned by the time they are teenagers.

There is no cure for the disease, and most children die by the time they are in their mid-teens.

Although 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 pain will help raise awareness.

In a video from November, Erin Stoop puts her four-year-old daughter Olivia to bed and asks if she can say “I love you.”

Ms Stoop, 36, breaks down in tears as Olivia struggles to finish the sentence. After several attempts, she finally responds with “I love…me.”

Just months before the video, which had nearly 10 million views, Olivia was able to speak in short sentences. Now, Ms. Stoop estimates that she will be completely nonverbal by the time she is in first grade.

“I didn’t expect her words to disappear so quickly,” the caption reads. ‘We expect a complete loss of words by age 6, and a life expectancy in the 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 cells in the central nervous system lose function and eventually die.

The disease is inherited when both parents carry one copy of a defective gene that prevents the body from breaking down heparan sulfate, a natural cellular waste.

Because the body cannot break down this waste, it builds up in the brain and other organs to toxic levels, killing cells. This leads to patients losing all cognitive and motor skills over time.

There are roughly 50 subgroups of the condition, and it often goes unnoticed or misdiagnosed as other developmental disorders such as autism.

In addition to speech and developmental delays, early symptoms include rapid breathing after birth, macrocephaly (large head size), excessive body hair, hearing loss and sleep disorders, according to the Cure Sanfilippo Syndrome Foundation.

Children with Sanflippo syndrome also often have prominent, thick eyebrows and coarse hair, as well as full lips and nose.

Sanfilippo syndrome accounts for about one in 70,000 births in the US, and life expectancy is 10 to 20 years. There is no medicine.

Mrs. Stoop told me Newsweek that Olivia was just like any other baby for the first two years of her life, except for the fact that she was prone to infections and had abnormal bowel movements.

It wasn’t until a family friend, who is also a pediatric neurologist, noticed Olivia’s thick eyebrows and unusual facial features. A blood test later revealed that she had Sanfilippo syndrome.

“Fortunately, thanks to that family friend, we were able to expedite our genetics appointment and order the appropriate tests from the genetics office,” Ms. Stoop said.

“I would have hoped the geneticist would have done that 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 from Georgia documents her nine-year-old daughter Haidyn’s experience with Sanfilippo syndrome to their 1.2 million TikTok followers.

Haidyn met all of her normal milestones until she reached the age of three, when she began experiencing speech and developmental delays.

Haidyn was initially diagnosed with autism, sensory processing disorder and global development delay. However, as she continued to lose abilities, genetic testing revealed Sanfilippo Syndrome.

Haidyn can no longer walk, talk or eat without a feeding tube. She also has seizures and often doesn’t sleep for days.

Ms Fowler is now providing 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, about four years old, waving his hands and trying to sing along with few words to a song in the background.

The next clip from 2014 shows him watching that older video of himself and singing along less clearly.

Finally, a clip from 2023 shows teenager Logan watching that first video with headphones on, having lost much of his hearing.

He can no longer sing along, although he tries to move his mouth.

“This disease can be heartbreaking to watch,” the caption read.