WEST BEND — October is Rett Syndrome Awareness Month, and for one West Bend family, the rare genetic disorder hits close to home as they work to help find a cure.
Rett syndrome is a severe neurodevelopmental disorder that primarily affect girls, due to a mutation of the MECP2 gene on an X chromosome, which occurs in roughly 1 in 10,000 pregnancies. There are boys affected by Rett syndrome, but it is less common.
The disorder has been described as having anxiety, autism, epilepsy, Parkinson’s, cerebral palsy and scoliosis all in one person, and each individual affected by Rett syndrome displays varying symptoms from one another, making each case unique.
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Murielle, 2, the daughter of Caelyn Poupore and Trent Basile, is one of between 6,000 and 9,000 people in the United States and about 350,000 worldwide to be affected by the disorder.
“She was born a healthy 7-pound baby. Rett syndrome typically isn’t evident until 6 to 18 months. She was eating on her own, she was sitting really good, she had physical therapy when she was born, because she had a little torticollis — which is a tightening of the neck muscle — but she had physical therapy and was doing really well,” said Sara Rossebo, Murielle’s grandmother. “Then we started to notice there wasn’t some coordination happening with her hands and her legs that kind of started at 10 months.”
From there, Murielle started showing signs of regression, typical in those with Rett syndrome.
According to Poupore, she began to suspect something was amiss when Murielle was only 6 months old.
“At 6 months, I had a feeling, because she was very delayed,” said Poupore. “She was improving, but there was a lot of things she was behind in.”
In February, Murielle and her parents underwent genetic testing, as Rett syndrome is a genetic disorder and not hereditary, and she was diagnosed in March.
“Before March, she was still playing with toys, she was still eating food, she had full capability of her body,” said Rossebo. “And then it just kept going on and on.”
According to Poupore and Rossebo, Murielle has now dealt with aspiration pneumonia despite having clear lung sounds, shaking, loss of speech and fine motor skills, repetitive hand movements or clapping which causes to her to be unable to crawl or walk, being smaller in size and height for her age, epilepsy, behavioral traits like teeth grinding and frustration, loss of balance and changes in her sleeping habits, due to her Rett syndrome.
“She went from sleeping from 7 p.m. to 7 a.m., and then going to waking up after 2 hours of sleep and wanting to be up, or fighting going to sleep and it was very behavioral where she was biting and hitting,” said Poupore.
“(With) balance, she used to be able to catch herself where she wouldn’t fall down when she was sitting,” said Rossebo. “Now that she doesn’t have control of her hands, she will fall over.”
Murielle also cannot eat food, due to being nonverbal currently, and requires a feeding tube.
“We’ve been working on spoon therapy, where you just put a spoon in her mouth to practice swallowing, it’s a goal to try and get it back,” said Poupore.
“It’s difficult watching your grand-baby, being able to wave, she called me ‘Mimi,’” Rossebo said. “She can’t do that anymore.”
Poupore added that she had to quit her job to be able to be Murielle’s full-time caretaker due to the disorder. Those with Rett syndrome can require full-time care for their whole lives.
A unique trait of Rett syndrome is that it has peaks and valleys in terms of the symptoms of the child for the first few years of their life, according to Poupore and Rossebo, where the child can regain or re-lose certain functions and abilities affected by the disorder.
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“Rett symptoms go into regression and then they can kind of pop out and they can go back into regression,” Rossebo said. “That phase kind of lasts until up to 6 years old, and then most of the research will say they plateau after 6, so whatever they lost or regained at that point will pretty much be what they see going forward.”
Those with Rett syndrome are encouraged to swim, go to equine therapy, physical therapy, occupational therapy and speech therapy as much as possible during this time to help preserve their muscles and strength. Murielle also has to see multiple specialists on a regular basis.
While there is no current cure, Daybue was approved as a medication to treat Rett syndrome in 2023. Clinical trials showed it improved the signs and symptoms of the disorder.
Additionally, Rett syndrome has been proven to be reversible in a mouse model through RNA editing, in a study funded by the Rett Syndrome Research Trust.
“That’s what really exciting now, there are so many researchers and there’s some top world researchers working on Rett,” Rossebo said.
The RSRT is trying to raise $40 million by 2028 to bring three genetic studies to a clinical trial to find a cure for Rett syndrome.
According to Rossebo, the main source of fundraising for the RSRT is families of someone diagnosed with Rett syndrome.
To aid the RSRT in fundraising efforts, Rossebo and Poupore have organized Murielle’s Run/Walk for a Cure, which will be held on Oct. 19 at 9 a.m. at The Hub, 303 Water St., West Bend.
Because the run/walk is being held in October for Rett Syndrome Awareness Month, and Halloween is approaching, all participants are encouraged to wear their Halloween costumes for the event.
The run/walk is a free event to attend and participate in, but will also serve as a fundraiser, with all proceeds benefitting the RSRT’s work to have a clinical trial conducted to try to find a cure for Rett syndrome.
Before and during the event, donations can be made to a GoFundMe page, set up by Rossebo to benefit the RSRT, at tinyurl.com/y33r5jfv. All money donated through the GoFundME will go directly to the RSRT. According to Rossebo, the support shown so far has been “amazing.”
“The community has been amazing, it just brings tears to your eyes,” Rossebo said.
During Murielle’s Run/Walk for a Cure there will also be raffles held to raise donations for the RSRT, as well as shirts for sale.
Interested businesses and organizations can also become a sponsor for the event, and can find information about becoming a sponsor online at tinyurl.com/9xwtpm6e.
Rossebo and Poupore said their goal was to raise $25,000 for the RSRT with the run/walk.
To register for Murielle’s Run/Walk for a Cure, on Oct. 19, online, visit tinyurl.com/7c2yajur.
To learn more about the RSRT and Rett Syndrome, visit reverserett.org.