Idaho Falls child diagnosed with dementia: ‘She won’t develop before our eyes’ Local
JAKOB THORINGTON POST REGISTER
IDAHO FALLS — Jessika Torrans has gotten used to the worried looks of others when she takes her 6-year-old daughter to the grocery store.
Viewers see a child with behavior problems far greater than the average child of that age showing up in public. Jessika describes her daughter Avery as omnipresent and sometimes irritable depending on her mood. A hyperactive child who lacks Avery’s consciousness can make it difficult and occasionally impossible for Jessika to run errands.
“I’m very picky about where I go and when I go,” Jessika said. “If she’s really unpredictable that day, we probably won’t go. But it sucks, because at the same time, she’s probably acting like that because she’s stuck at home.”
Jessica is prepared for interactions with strangers and will often hand the affected person a business card with a picture and a small note explaining that Avery’s behavior is the result of a very rare and serious illness.
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Avery was diagnosed with Sanfilippo syndrome, or mucopolysaccharidosis type III, in November. According to the Sanfilippo Children’s Foundation, one in 70,000 children is born with the disease. It is often compared to dementia because children show neurodegenerative activity throughout their lives.
Sanfilippo syndrome is incurable and most children who are diagnosed die in their teens, although some live into their 20s and 30s. Children with the disease often lose motor function and are unable to walk or speak after the age of 10.
The disease is inherited genetically and is caused by a patient lacking enzymes essential for breaking down sugar molecules used to build connective tissue in the body. These molecules remain stored in the body’s cells and cause progressive damage to mental and motor functions. There are four different types of mucopolysaccharidosis type III, depending on which enzyme the patient is missing. Avery was diagnosed with type A, which is thought to be the most common and severe type and results in an earlier death than the other types, according to the Team Sanfilipo Foundation website.
Jessika said the diagnosis was a shock. Avery developed normally and met all of her expected milestones until age 3 when she began exhibiting behavioral problems, which caused her then preschool teacher some concern. Avery’s behavior caused Jessika to pull her out of the kindergarten class a few years later.
Sanfilippo Syndrome often causes Avery’s behavior to be erratic. Her attention span is shorter than most children her age and at times it seems non-existent. Avery speech-language pathologist Matt Foster often has to use a tactic he calls “diversion” during therapy sessions. Redirection involves taking away the object that distracts Avery from the activity he is trying to get her to do or presents the activity directly in front of her to help her focus, often aided by audio and visual cues.
Avery doesn’t seem to have an understanding of her external environment, Jessika said. This is an area Foster attempted to address during therapy because Avery doesn’t understand that fleeing Jessica in a parking lot could result in her being hit by a car, and she doesn’t understand the concept of “stranger threat.”
To control these impulses, Foster recently began using an Oculus virtual reality headset in his therapy sessions to help Avery scan her surroundings. He’ll ask her to describe what she’s seeing, although she’s reluctant to put the device on at the moment and will wriggle out after a minute or two.
At first, Jessika and Avery’s teachers suspected that she might be suffering from a more common attention deficit disorder such as ADHD or ADD. Jessika was floored when a doctor recommended that Avery undergo genetic testing to determine if she had an intellectual disability as a result of Avery’s development. A geneticist in Utah diagnosed Avery with mucopolysaccharidosis type III on World Sanfilippo Awareness Day, November 16.
Mental regression begins to affect Avery. Jessika said that Avery doesn’t sing as much as she did a few years ago, although Avery likes to do it. Avery also shows signs of regression to some early childhood tendencies, mainly oral sensory ones. Avery’s first reaction when holding an object is to put it in her mouth, which young children do to explore their surroundings.
“As a baby, I never really had to worry about her putting anything in her mouth,” Jessika said.
Eventually, Avery will stop speaking and then stop eating because her body will not be able to chew and swallow food.
“She’s basically going to retreat before our eyes,” Jessika said. “It’s devastating to watch and see.”
Avery receives therapy three times a week to slow her regression as much as possible. Foster said Avery is the first child he or a staff member he knows has seen with Sanfilippo syndrome in his 15 years of therapy.
Foster modified his therapy to help Avery preserve her short-term memory. This includes Jessika parking her vehicle in the same place for each session. As Foster leads Avery out of his office, he asks her to find her mother’s car, which she’s gotten pretty good at.
He also has Avery remove her shoes during his sessions and he tosses her to one side but still in plain view. He does this in hopes that Avery will remember to put her shoes on before going outside. Sometimes she can do this on her own, but when she forgets, she eventually remembers it with Foster’s guidance. Foster cites this as an example of “throwing out loops” to his patients, and he does so because it has been beneficial to dementia patients he has worked with.
Foster has a foldable mini basketball hoop in his office. He uses it as a makeshift tent when doing activities with Avery, dragging it down on the two of them so she can focus on what he’s letting her do. One activity he does is have her play with a ton of toy animals he has and then ask her to identify the animal she’s holding on an iPad app. But even on the best of days, Avery’s focus is fleeting.
“She’s like a human ping-pong ball,” Foster said.
Foster said the therapy helped Avery improve some of her cognitive functions, such as realizing she’s missing her shoes, but she’s also shown regression, or lack of improvement, in others, including her speech patterns and oral sensing . He said he believes this is due to their motivation. Her desire to see her mother enhances her awareness of putting her shoes on before leaving Foster’s office. But her desire to play with her toys, along with the buildup of the molecules causing the regression in her brain, could lead her to put the toys in her mouth.
No parent ever plans for their child to have such a condition, Jessika said. Still in shock at the diagnosis, she realizes she can handle it.
“This isn’t the lifestyle you predicted, so you’re mourning the child you never had to an extent,” she said.
Being Avery’s mother and seeing her every day makes it difficult to grasp what is happening to her and what will eventually happen, Jessika said. Avery is still very much herself and like many 6 year olds.
“It’s hard to believe we’re living it because she’s still herself,” Jessika said. “She’s still running around yelling and acting silly and engaging in everything that drives me crazy, but one day she won’t be able to.”
Avery adores her little sister Penny and loves to play with her cousins on family outings. Like many other young children, Avery loves to paint and draw, even if it comes down to doodling, she said.
“She drives 1,000 miles an hour times a million,” Jessika said. “She is very cheerful and always in the moment.”
Jessika and her husband Nigel Brizee do not suspect Sanfilippo syndrome in Penny, although she may be a carrier, as both Jessika and Brizee are. Statistically, one in four children will be diagnosed with the disease if both parents are carriers. They’re testing Penny so they can take preventive action as soon as possible if she has it.
There are no treatments to cure Sanfillipo syndrome, but there are methods to slow the regression it causes. The Sanfilippo Children’s Foundation website says clinical trials are ongoing as researchers try to develop effective treatments, and gene therapy may be the most promising avenue to explore.
Jessika advises parents to have their children examined as soon as possible if they suspect that their development is not quite right, because early diagnosis is crucial in the case of serious illnesses.
Jessika said it’s a confusing time to be a parent, but the diagnosis helped her and Brizzee understand Avery much better. She said she hopes people will be more understanding when they see a parent with a child who is behaving erratically because “you don’t know what’s going on in their home.”
Speech-language pathologist Matt Foster and Jessika Torrans organize a 5,000/10,000 fundraiser to help cover Avery Torrans’ medical expenses. The race will take place on May 21st at 8am at Snake River Landing.
Registration is on active.com, but the race is not yet visible on the website. For information, call 208-529-3562 and request to speak to Foster.