Fundraising event to support research on uncommon disease
Constance Dufayet simply can’t do some things that most other children her age can do.
The 11-year-old can’t safely ride a bike beyond her home in Carmel Valley. She can’t cross the street without someone to guide her. She can’t join 10-year-old sister Celeste on a girls’ softball team.
Yet, after two years of chemotherapy for the brain tumor diminishing her vision, the Torrey Hills Elementary school student gleams when she talks about the next important event in her life — the Shine a Light on Neurofibromatosis fundraising walk on Nov. 7 at San Diego’s De Anza Cove in Mission Bay Park.
“I’m so excited,” she said. “We’re going to have lots of (activities) like a silent auction. There’s going to be a DJ and music, and we’re going to have tons of fun.
“And the sponsor is actually Geppetto’s (toy shops), which is really cool. There will be two walks, a 5K and a shorter one.”
The event, which starts at 2 p.m., aims to help its sponsor, the San Diego chapter of the Children’s Tumor Foundation, meet and exceed its goal of raising $15,000 toward research and treatment of neurofibromatosis, the condition affecting Constance.
Event information and signups are available by going to the website, shinealightwalk.org/sandiego2021.
Organizer Claudia Becerra said she is still working on the entertainment aspects of the walk, but they could include Star Wars characters, balloon artists and more.
“Neurofibromatosis is a rare genetic condition and most people have not heard about it,” Becerra said. “This event is an important reminder for newly diagnosed families and all those whose lives are affected by NF that they are not alone in the fight to end NF.”
There is no cure for NF, which affects about one in every 3,000 births and could spark an array of disorders.
The disease causes tumors to grow on nerves in the body, often leading to blindness, deafness, bone abnormalities, disfigurement, learning disabilities, disabling pain and cancer.
While NF is typically diagnosed in early childhood, symptoms often do not start appearing until later. Constance’s parents, Claire and Cedric, knew of their daughter’s condition since she was a baby. It wasn’t until about three years ago that her physicians identified that her vision was deteriorating.
“She didn’t have any kind of a problem until fairly recently,” Cedric Dufayet said. “She had a full medical follow-up and that’s when they started to see that her vision was going bad and an MRI revealed that she had a tumor on her optic nerve.”
Not all people with NF develop symptoms, while others experience mild to severe effects.
“Some people get some more serious conditions, just like Constance,” her father said. “They can actually lose vision or have impaired vision. It’s a broad spectrum disease. Some kids can have some deformities and some can have learning disabilities. Some patients have nothing and some of them have the full package.”
Constance has a limited scope of vision and nearsightedness in both eyes because of the tumor.
“I bump into people at the store and at recess,” she said, adding that she sometimes does not recognize acquaintances she comes across.
The growth has also pushed on other parts of her brain and could result in endocrine disorders, the father said.
There is hope on the horizon, with the U.S. Federal Drug Administration’s approval in 2020 of a drug with the brand name of Koselugo for inoperable plexiform neurofibromas. Constance’s parents are hopeful the drug will help with their daughter’s condition.
“It would be the next step,” said Claire Dufayet, since it is no longer safe for the girl to undergo chemotherapy. “Her body couldn’t stand it anymore.”
Said Constance: “My immune system started being very weak. I almost had transfusions a couple of times, and I had to miss rounds of chemo multiple times because of that.
“The doctors just decided to stop because they didn’t want that to cause more problems and to make me be sick ... The good news is it’s not getting bigger.”
Should her vision worsen, Koselugo could be an option. Constance’s parents credit the Children’s Tumor Foundation with the advancement of the drug to federal approval.
“Its been approved thanks to all the research efforts and the funds raised by the CTF,” Cedric Dufayet said. “It’s one of the victories of CTF that the funding has allowed that drug to come on the market.
“Some kids can have big and deforming neurofibromas These drugs make them shrink to some extent, improving their quality of life.”
Yet, a cure has eluded scientists, which is why events like the foundation’s Shine a Light walks are so important. While the walks occur around the nation, they are organized and staged by the organization’s local committees.
“Funds raised by the CTF have allowed that drug to come on the market,” Cedric Dufayet said. “That’s why nongovernment organizations are so important to fund NF research.”
Because NF causes symptoms that often lead to other more serious problems and suffering, patients require a team of specialists.
“These kids usually need to see to see a neurologist, a dermatologist, sometimes an oncologist, an opthalmologist and a geneticist sometimes” Cedric said.
Regarding Constance’s treatment, her mother said, “With chemo, everything had to be checked all the time.”
Constant medical oversight and treatments combined with the impairments resulting from NF are a big challenge for patients and their families.
Thankfully, Constance’ said, her teachers, fellow students and neighbors know of her condition. She said she has managed to stay up with her education despite missing time due to chemo sessions.
“I explained to my classmates what I have and what it is and how it impacts me and they all understand,” Constance said. “So it’s easier in class when I don’t see well and I don’t understand, they’re not all like ‘What?’”
Her mother attests: “She’s always smiling and strong.”
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