WILBRAHAM — For families of a person with the neurodevelopmental disorder Rett syndrome, daily life can be isolating, said Maggie Wurm, whose 24-year-old daughter, Madasyn, has the disorder.
But on Oct. 5, the community is invited to celebrate together and raise money for Rett syndrome support and research at the inaugural Livy’s VIP Dance in Wilbraham.
Rett syndrome is caused by any of 200 mutations of a gene on the X chromosome. Babies born with two X chromosomes develop Rett syndrome at a rate of 1-in-10,000. Those born with XY chromosomes can also develop the disorder, however it is exceedingly rare.
According to the International Rett Syndrome Foundation, symptoms of the disorder include slowed development and growth, breathing issues, sleep disturbances and loss of speech, coordination and movement, particularly of the hands. People with the disorder often lose the ability to walk and develop seizures, repetitive motions and spinal issues, such as scoliosis. It also affects their pulmonary, digestion and cardiac systems. Parents often first notice signs of the disorder between 6 and 18 months of age, when babies miss milestones or begin to lose coordination and skills they had previously developed. In many cases, people eventually require around-the-clock care.
“Those with Rett syndrome are ‘trapped’ in non-functional bodies while keeping their dreams, emotions and humanity intact,” Wurm, a Rett Syndrome Angels board member said in a press release. While the symptoms above are common, Wurm emphasized that the variety and severity of Rett symptoms differ from person to person. Because the disorder’s symptoms overlap with other conditions, including autism, cerebral palsy and epilepsy, the disorder is often misdiagnosed.
As Rett Syndrome Awareness Month, October will feature a few special events. Purple Sky Night on Oct. 5 will see bridges and other landmarks across the region illuminated in purple to raise awareness. On Oct. 25, Blue Sky Day, at Havard Medical School, people with Rett syndrome, accompanied by family members, will climb or be carried up the steps of the school to symbolize moving toward a bright future.
Locally, Rett Syndrome Angels is a nonprofit group that supports people with Rett syndrome and their families across New England. The organization donates funding to research, provides educational scholarships for the siblings of those with Rett’s and organizes in-person and virtual events for families each year.
The organization is hosting Livy’s VIP Dance at the Wilbraham Senior Center, 250 Springfield St. The event is a fundraiser honoring Olivia ‘Livy’ Hilario, a 5-year-old with Rett syndrome who died in April. The Disney Princess-themed event will include dancing, food, photos and an opportunity for children to meet Ariel, Cinderella, Prince Eric and Prince Charming. Guests are encouraged to dress up as their favorite royal characters.
“While Olivia is irreplaceable, we hope that with support from our community and compassionate people like you, we can make a meaningful difference for others who are currently facing or about to begin the challenges we have experienced,” said Olivia’s mother, Shanon Hilario.
The fundraiser will support research funding and aid families living with the disorder. “The Rett community is pretty close,” Wurm said.
Wurm said the fundraising is vital now, more than ever. “Constant therapy, starting early, is crucial,” Wurm said. “Remarkably, scientists have proven Rett is reversible in the lab, but significant research investment is needed to develop treatments and a cure.” While there is no cure for Rett Syndrome, there are more than 20 clinical trials to examine treatments, including those using gene therapy and artificial intelligence. The federal Food and Drug Administration has also approved the medicine trofinetide to manage symptoms.
To purchase tickets to Livy’s VIP Dance, visit rsangels.org/event/livys-v-i-p-dance.
To learn more about the International Rett Syndrome Foundation at rettsyndrome.org.
