By the time her son Charley was a toddler, Mary Kaye Richter, a florist who was raising her family on a 750-acre farm outside Belleville, Ill., knew that there was something very different about him.
At birth, the child had skin that was dry and scaly, prone to flaking off. As a baby, he was abnormally fussy in hot weather. By 18 months, he had only the sparsest wisps of blond hair, and had yet to produce a single tooth.
When Ms. Richter took her son to a dentist to investigate, an X-ray revealed that he had no permanent teeth. Perplexed, the dentist dug deep into his dental school textbooks and concluded that Charley had an extraordinarily rare disorder called hypohidrotic ectodermal dysplasia.
Ectodermal dysplasias are a group of genetic conditions characterized by an inability to sweat because of an absence or malfunction of sweat glands; irregularities with hair, nails and teeth; and other characteristics. As if the diagnosis was not challenging enough, Ms. Richter was told that there were only seven other cases in the United States at the time — so research was minimal, and support networks were essentially nonexistent.
Instead of caving to fate, Ms. Richter decided to create her own support network. From the kitchen table of her farmhouse amid the rows of corn and soybeans, she started the National Foundation for Ectodermal Dysplasias. The foundation soon discovered dozens of other cases, then hundreds.
By the time Ms. Richter died, at 77 on Nov. 24 at her home in Trenton, Ill., surrounded by holiday garlands and her collection of glass figurines, the organization was serving more than 9,200 families worldwide and had raised more than $3.6 million to fund research at more than 40 medical facilities around the world. What started as a personal crusade was now a global one.
Charley Richter said his mother died of cancer.
“I had seen too many kids, and at that time too many adults, who struggled because they didn’t have teeth,” Ms. Richter said in a video interview in 2021 marking the organization’s 40th anniversary. “They didn’t get jobs, they didn’t have friends. It was sad.”
“I wanted every kid to have a chance at a good life,” she added.
Mary Kathleen Heberer (she later adopted the middle name Kaye) was born on April 20, 1945, in Belleville, a small town near St. Louis. She was the youngest of three children of Henry and Lillian (Wittlich) Heberer, who ran a farm outside the nearby town of Freeburg.
After high school, she abandoned the agrarian life for a year to attend the University of Illinois, but she soon returned to marry another farmer, Norman Richter. The couple had a son, Michael, and a daughter, Sharon, while Ms. Richter ran a flower shop in her 20s. Her youngest son, Charley, was born in April 1978.
After his diagnosis in the fall of 1979, Ms. Richter felt helpless as she tried to find out more about his disorder. “You might call a lot of places, and go a lot of places, but virtually no one could tell you anything other than ‘Well, I maybe saw one case 20 years ago’ or whatever,” Ms. Richter recalled in the 2021 interview. “When it came to really useful information about living and school and life span and education and all of those things that are critical to a parent, it wasn’t there.”
The first step was to find other people facing the same challenges. She reached out to more than 60 dental schools and associations and found out the condition was not nearly as rare as imagined. But treatments were hard to come by.
At a minimum, her youngest son needed dentures — not only to eat but for aesthetic reasons, too. In addition to a lack of teeth, which could affect one’s jaw profile, people with ectodermal dysplasia tend to have a prominent forehead, thin lips and dark skin around the eyes. (The character actor Michael Berryman, who appeared with Jack Nicholson in “One Flew Over the Cuckoo’s Nest” in 1975 and starred in the 1977 horror film “The Hills Have Eyes,” is a rare example in the public eye.)
But even finding dentures proved a struggle. Back then, “the belief in the dental community was ‘Oh, they’ve got to be at least a teenager before we even start,’” Ms. Richter said in a video interview last year. “Well, if you wait until they’re a teenager, any damage that is going to be done to their psyche is going to be complete.”
She finally secured them when Charley was 3.
The boy then had a hard time playing outside during blazing Midwestern summers. So they improvised.
“Mom would give me a Popsicle,” Mr. Richter, who is now 44, recalled by phone, adding, “I’d come back inside and my hair would be blue or red or whatever, because I had been rubbing it on my head to stay cool.”
Ms. Richter found a solution in the early 1980s while watching an episode of “That’s Incredible!,” an ABC reality show about ordinary Americans unusual experiences. The episode featured a young boy with the same condition as Charley who had been fitted with a cooling suit, courtesy of NASA. Ms. Richter contacted the network to find the boy’s family, which soon led her to other afflicted families who had seen the show.
Before long, her son had a vest of his own, filled with tubes that he pumped with ice water. But he found it embarrassing and at times cumbersome, like when he wore it under his Little League uniform.
“Of course it worked,” Mr. Richter said. “Did it make a kid who wanted to just be like a normal kid feel like he stuck out even more? It certainly did. I would much rather just go jump in a trough of water.”
Fund-raising for medical research became a focus of the foundation. “Mary Kaye realized some 40 years ago that if we don’t fund this research, nobody will,” Mary Fete, the foundation’s executive director, said by phone.
The foundation also provided information and support to families, as well as running conferences around the world on ectodermal dysplasias. It continues to raise funds for a potential cure and operates on an annual budget of about $1 million.
There is already a test for unborn babies to see if they have a mutation in the gene that can cause some forms of the disorder. Researchers are now testing injections of a missing protein into the amniotic fluid of women carrying fetuses affected by one of the most common forms of ectodermal dysplasia.
So far, the research has yielded promising results in animals and humans — six baby boys have been treated, with promising results, Ms. Fete said — and there is currently a clinical trial further studying the treatment in humans so it can be approved by the federal government for use. The goal is for the treatment to hit the market by 2026.
Near the end of her life, Ms. Richter recalled the pointed advice that the head of another nonprofit group gave her when she was starting out: “Don’t do it!”
Running a foundation would consume her life, the person said. It did. And she did not have the slightest regret.
“You have to give it your all,” Ms. Richter said in a blog post on the foundation’s website, “or it won’t work.”
In addition to her son Charley, Ms. Richter is survived by her husband; her other son, Michael; her daughter, Sharon Grimes; and seven grandchildren.
Thanks to his mother’s tireless advocacy and support, Charley Richter said, he has lived a productive and fulfilling life. He now runs the family farm, which has expanded to about 2,000 acres. He married (though he later divorced) and has two daughters.
And despite his condition, he manages to toil in the fields under the broiling sun. “I stay cool farming the same way I did when I played soccer in high school,” he said. “Lots of water, in me and on me.”