Charlotte Egerton-Warburton has been busy during the Covid-19 pandemic with a project that helps the world in two ways.
Charlotte, 10, makes and sells beaded necklaces that are handy to keep one's mask around the neck. She is using the sale as a fund-raiser for research into ADNP syndrome, also known as Helsmoortel-Van Der Aa Syndrome, a rare neurodevelopmental disorder that affects her younger brother, Rowland.
She first got the idea for the masks while attending a girls' camp in Southampton over the summer, called Waverly Beach, which focused on creativity, arts and crafts, and female entrepreneurship. Once her family returned home to Water Mill, Charlotte continued making the beaded mask necklaces with her mother, Genie Egerton-Warburton, and Dora and Penny, the children's nannies. They have made about 500 beaded mask necklaces so far.
Charlotte first sold them to her grandparents' friends while visiting them in Buzzards Bay, Mass. "They are convenient to hold your mask on, and they are fun to make and people enjoy them," she said. "They have made a lot of my grandparents' friends happy and they keep ordering more and more that my mom ships to them. Now, friends at home keep buying them."
Her materials include elastic thread, small and big clasps, and a variety of intricate, beautiful beads. There are "stone beads, glass beads, and little animals like elephants and turtles. For kids, I use hearts, letters, footballs, and emojis. They are really cool," Charlotte said.
Her proud mother said Charlotte has raised $4,000 so far. Many buyers have also donated money for the cause, she said.
"The most important thing is that I am doing this to help raise money for my brother's disability and trial," Charlotte said. "I love him very much, and if he can have a treatment or cure, I would be the happiest big sister."
Rowland Egerton-Warburton, 8, was diagnosed with ADNP syndrome in 2016. The rare disorder is caused by a mutation in the neuroprotective protein gene that regulates brain formation, development, and function. Rowland is one out of 275 people worldwide known to have ADNP syndrome, though Ms. Egerton-Warburton said there are thought to be millions of people with this condition who have not been genetically tested or properly diagnosed.
"ADNP is not an easy syndrome to have," she said. "Since it is so rare, it can be difficult to explain Roly's behavior to people. His receptive language skills are strengthening, but he has difficulty speaking, and being nonverbal, or having few words, can be highly frustrating for him and others."
When people inquire, she often has to explain his disability. She described it as a "non-inherited genetic form of autism."
Rowland is participating in a phase-two ketamine clinical trial at the Seaver Autism Center for Research and Treatment at the Icahn School of Medicine at Mount Sinai Medical Center. There are 10 children in the trial, said his mother, and so far Rowland is one of three children who have received an infusion of low-dose ketamine. There was a screening period one month before the baseline visit and infusion, followed by many clinical visits to track efficacy and safety, including repeated tests such as EEG, EKG, eye tracking, blood draws, and diagnostic testing for autism.
"The main purpose of the trial is to show that ketamine is safe, because we're only giving one dose," said Dr. Alexander Kolevzon, clinical director of the Seaver Autism Center. "There is certainly a hope that because ketamine increases expression of the ADNP gene . . . it can potentially produce more ADNP protein, and we may see clinical improvements. We're measuring behaviors, sensory sensitivities, sleep, thinking, learning, and social communication."
Ms. Egerton-Warburton, who is the vice president of the ADNP Kids Research Foundation, said the organization is raising money to pay for this study, and for a phase-three study as well. The foundation hopes to facilitate another trial using a drug called NAP (davunetide) that may help regulate the ADNP neuroprotective protein. Both ketamine and NAP are considered to be promising drugs for children with ADNP Syndrome.
Dr. Kolevzon, who was recently nominated for the RARE Champion of Hope Award by the Global Genes Allies in Rare Disease organization, said efforts such as Charlotte's raise awareness and money for future trials.
"Our clinical research team is extremely appreciative of the beaded mask necklaces. It's wonderful to have the support from the community, and we love being able to wear that support around our necks," he said.
Charlotte's beaded mask necklaces can be bought at Stevenson's Toys and Games in Southampton and East Hampton, and at STANDwellness in Water Mill. All proceeds go directly to the ADNP Kids Research Foundation. The beaded mask necklaces are $12 for kids and $25 for adults. Cash and checks made out to the ADNP Kids Research Foundation are accepted.