In 2010, Noelle Pacl and her family learned what Logan’s condition was, which is also known as ‘childhood Alzheimer's.' Like many others, they were unsure of the specifics and what it meant.
Sixteen-year-old Logan Pacl is living with Sanfilippo syndrome. This rare neurodegenerative disorder, caused by a gene defect, affects the brain and spinal cord. Children lose skills, suffer seizures and movement disorders and experience pain, according to the Cure Sanfilippo Foundation. The disease, also referred to as “childhood Alzheimer’s” or “childhood dementia,” is terminal.
Noelle Pacl gave birth to Logan and his twin brother, Austin, in 2007. At the time, she says both boys were healthy, and there was no indication that anything about Logan was different.
“He met his milestones up to about a year, and we noticed he started falling behind his twin,” Noelle told Inside Edition Digital’s Andrea Swindall. “The biggest thing was the speech delay, and that was the red flag to start it all. He had no words at all while his brother was talking.”
Noelle says chronic respiratory infections, air infections and gastrointestinal problems followed.
“He had this big round belly, and we just couldn't figure out what was going on,” she said. “His pediatrician was like, this seems like a full body thing. Let's get you into a geneticist and get some genetic testing done."
In 2010, the Washington state family learned what Logan’s condition was. Like many others, they were unsure of the specifics and what it meant.
“I kept thinking to myself, so how do we treat it?” Noelle said. “How do we get him better? And then she just kind of drops the bomb, and she's like, 'It is a terminal disease.' Life expectancy is in late teens, and unfortunately, at this time, there's no treatment or cure.”
“And I don't remember anything she said after that because my heart just dropped into my stomach. And that was just absolutely devastating.”
The family didn’t have many resources after the diagnosis.
Noelle says medical professionals didn’t offer a lot of information.
“It's really weird because they just tell you, just take 'em home and love all you can do,” she said.
“It was just awful. I cried myself to sleep every night. It's strange to kind of mourn somebody who's still there with you and not just really them, but the life you had planned ... you have this kind of an idea of the life you want for your child, and in a second, it's just completely ripped away.”
After returning to the genetics counselor, Noelle and her husband, William, began researching Sanfilippo syndrome and found a mother online who shared details about her child getting an experimental stem cell transplant at Duke University. They decided Logan would have the same experimental stem cell treatment at 3 years old, hoping it would improve his quality of life.
"They're introducing new stem cells that make the enzyme that his body is missing,” Noelle said. “And if it takes, it's possible that his body can start making enzymes to help with the physical symptoms of Sanfilippo syndrome.”
The stem cell treatment was a long and arduous process that put Logan’s life at risk, Noelle said.
“It was a three-month-long thing, basically a bone marrow transplant. He had to do chemo to kill off his immune system so it would accept the new stem cells. It's very risky, very, very risky.”
But, she feels like the treatment has helped with Logan’s physical symptoms.
Life with Logan is different than with most 16-year-olds.
Noelle said when he began losing his speech at a young age, it was a difficult and frustrating transition for Logan and the family. But as Logan has gotten older, he has mellowed out.
Daily life for the Pacl family includes working with Logan to keep the skills that he already has. If not, he will lose them. That includes walking up and down stairs, working on fine motor skills, engagement, communication and exercising his attention span. She stresses that even with challenges, days spent with Logan are happy and enjoyable.
Since Logan has a cognitive level at 9 to 12 months, he communicates with his mother using a PECS (picture, exchange communications system) binder. Noelle also has learned to anticipate his needs and rely on body language.
Like most boys, Logan is active, loves the outdoors, hikes, swims, and walks daily. He loves looking at books, although he cannot read them, and enjoys watching movies. His favorite activity is one Noelle says many children with Sanfilippo syndrome enjoy.
“His absolute favorite thing is a trampoline,” she said. “We cannot go anywhere without a trampoline. He needs to have his jumping time."
Logan has a unique sleeping arrangement and uses a sleep-safe bed that's enclosed and has padding, Noelle says. One reason is so Logan can be contained for his safety. It also helps with the focal and tonic-clonic seizures that he regularly endures.
In addition to seizures, Logan has an excruciating movement disorder called dystonia. The Mayo Clinic describes dystonia as a movement disorder that causes muscles to contract involuntarily. This leads to repetitive or twisting movements, and it is extremely painful.
Is Sanfilippo the same as ‘childhood Alzheimer’s’?
To categorize Sanfilippo better, many refer to it as “childhood Alzheimers” or “childhood dementia,” but Noelle stresses that the two diseases have differences.
“It's not just a neurological disease,” she notes. "It's a full-body disease, so it affects them physically as well.
“And I think sometimes people get hung up on the Alzheimer's part or the dementia part. Some people call it childhood dementia, and they think it's just neurological, but it's also physical as well,” she adds.
Children with Sanfilippo syndrome share a similar, distinct appearance. According to Noelle, many Sanfilippo parents joke that their children are all siblings. They have thick, bushy eyebrows, a low nasal bridge, long eyelashes, full lips, larger heads, and coarse, thick hair. Younger children will also have big, round stomachs.
Although Logan requires much attention, Noelle says it’s essential to keep life normal for Logan’s siblings, Austin and Aidyn. And she reveals that having a disabled brother has advantages.
“I will say, if anything, having a disabled brother has made them more compassionate, empathetic, extremely patient and understanding,” she said.
Throughout Logan’s life, Noelle has been fortunate to have great people around her helping. Not only does she have a great support system, but because her husband is in the Navy, they’ve provided her with respite care. Because she has this help, she is able to have time for self-care, volunteering, and running a non-profit organization.
Noelle began sharing the family’s journey on TikTok in 2020. Her first video was a hit, and now she uses social media to spread awareness
“People are so invested, and I mean, Logan's amazing. You can't not be drawn to him,” she said. “ And what's wonderful about it is so much is so many people all over the world now know what Sanfilippo syndrome is.”
She also says other parents have seen her videos and have been able to get an early diagnosis for the same disease.
As the illness progresses, Noelle is unsure of what to expect because every child’s future looks different. There are three stages to Sanfilippo, but because Logan is currently healthy, she is unable to gauge where he is in the disease.
“We just live in the moment,” she said. “And if something comes up and we're like, we can make that, we'll do it.”
Although Noelle has shared much of Logan’s journey in the past, she is unsure of what Logan’s future will look like. And she’s uncertain of what she will share online as time goes on. But whatever she does show will be in good taste.
“I will continue to share,” she said. “Not necessarily video, though, because I would not want someone videoing me and sharing that to the world in my most vulnerable moments.
“I will continue to talk, and I will continue to update because it is important that people understand the reality of the disease and why it is so important that we find a cure or a treatment for it. But it's also important that Logan [gets] dignity and respect."
Whatever the future holds for the Pacl family, they are focused on making the most of their time with Logan.
“I used to try to block it out, and then I found out that wasn't very healthy. So it's anticipatory grief, and you go through cycles. You are mourning someone who's still here, and there are good days, and there are bad days. Luckily, there are more good days, but there are some days that I do find that I dwell on what the future holds.
“I do my best to live in the moment because I want to enjoy the actual moment and not worry about what's to come and miss out on experiencing Logan and having these fun times with him,” she adds.
For more information on Sanfilippo syndrome, visit the Cure Sanfilippo Foundation.
