For babies who can’t grow hair or teeth, a cure might be on the way

By Michele Munz

St. Louis Post-Dispatch (MCT)

Published: Tuesday, April 22 2014 12:00 a.m. MDT

In this March 26, 2014 photo, Sarah Yaroch, of Waterford, Mich., holds her five week-old son Andrew Yaroch, in St. Louis. Andrew is the third baby worldwide to participate in a clinical trial to treat a rare genetic disorder called hypohidrotic ectodermal dysplasia, which inhibits the growth of teeth, hair and sweat glands.

Stephanie S. Cordle, Associated Press

Enlarge photo»

ST. LOUIS — When Mary Kaye Richter’s son was diagnosed, she could only find a few paragraphs about hypohidrotic ectodermal dysplasia, which inhibits the growth of teeth, hair and sweat glands. To learn more, she converted a storage room of a church in Mascoutah, Ill., into the headquarters for a foundation that she established.

Now 33 years later, Richter’s life’s work came full circle when she got the chance to meet month-old baby Andrew with the same genetic disorder. His family flew to St. Louis from Michigan last month to test a therapy that could be a cure.

When Richter, 69, saw the baby asleep in his mother’s arms in their St. Louis Children’s Hospital room, she was overcome. “Excuse me everybody, there’s something I have to do,” she said.

She placed her hand on the baby’s head. And she prayed.

“What is the likelihood of a southwestern Illinois farm wife bringing all this attention to a condition where in 30 years you are talking about a treatment?” she said. “It was one of those moments that shouted for prayer.”

Richter gave thanks for the thousands of parents across the world — joined by the foundation — who raised funds for research and provided information and testing subjects for scientists. She gave thanks for Andrew’s parents, Robert and Sarah Yaroch, whose baby is just the third in the world to test the protein therapy. If it works, the therapy would be first to permanently correct the effects of a genetic mutation.

It all started with Richter’s effort to write letters to dental schools across the country, asking if they had seen children with this condition, so she could find other parents. Richter quickly learned that estimates of fewer than a dozen people in the U.S. having this disorder were wrong.

“My desire to find a family to help us turned into something I never would’ve imagined,” she said. “I kept hearing, ‘Somebody has got to do something to help these kids.’”

Richter wasn’t sure why her baby Charlie got so fussy in the summer heat. When he was a year old and still had no teeth, her dentist told her not to be concerned until he was 18 months.

When he reached 16 months old, however, she couldn’t wait. She took him in for X-rays, and they came back blank. Luckily, her dentist was aware of the disorder and broke the news to her.

“I remember walking out of that office, holding (Charlie) so tight, as if I was going to protect him from everything that would come along,” she said.

Her pediatrician searched medical libraries for information, only to find half a dozen paragraphs in periodicals. Finding other parents was the only way she was going to learn how to best care for her baby.

A newsletter for the parents discovered through her letters to dental schools was the first step. They shared information on everything from the importance of getting dentures early to whether the children could play sports. Parents offered tips on how to deal with insurance or care for dry eyes and noses. They alleviated one another’s fears about the children’s intellect or how long they would live.

But Richter felt they needed to do more.

“Two things became clear, Richter said. “We had to help kids get care whose families couldn’t afford it, and we had to try to stimulate some research.”

She founded the National Foundation for Ectodermal Dysplasis in 1981. Families provided blood samples to Dr. Jonathan Zonana, an Oregon Health and Science University researcher who was able to locate the gene associated with the disorder. They held walks, barbecues and mass mailings to raise funds for Zonana to continue his research, which helped him win large government grants over the next 12 years.

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