For babies who can’t grow hair or teeth, a cure might be on the way
By Michele Munz, St. Louis Post-Dispatch | |
McClatchy-Tribune Information Services |
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
When Richter, 69, saw the baby asleep in his mother's arms in their
She placed her hand on the baby's head. And she prayed.
"What is the likelihood of a southwestern
Richter
Richter
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,
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
In 1996, Zonona and a team of national researchers -- including two at
Funding from the foundation also helped scientists in
A setback came in 2007, when the company making the synthetic protein was bought out. Research languished for two years.
"That was one of those times were you wonder if it's going to happen. So, I'd pray ..." Richter said. "I came to believe if something is meant to happen, it will come together."
Two researchers involved in testing the synthetic protein searched for two years for an investor. The promising animal studies caught the attention of
The firm was interested in funding possible treatments for rare diseases, which are often neglected, explained
"This particular disease really rose to the top of the pile," Kirby said. "It looked from the animal data that you could administer this missing protein for a very short period of time during human development and actually correct that disease without having to give drugs for the rest of the patient's life. No one has ever done that before."
Richter retired as director of the foundation in 2010 after helping raise nearly
In
Yaroch's father had the condition, which made her a carrier. Female carriers tend to have milder symptoms because their other healthy X chromosome can compensate. Spontaneous mutations can also occur in families with no history of the disorder.
Yaroch had Andrew on
Yaroch's sister had heard of testing of a new therapy for boys and sought more information. She learned newborns need to receive an intravenous infusion within the first two weeks of life. Four more infusions would follow the next two weeks. Studies so far showed no serious risks.
While Edimer tries to identify and work with families during pregnancy, the Yarochs had to act quickly to get genetic testing, make arrangements for their two older children and get to the nearest study site in
"This is an opportunity for Andrew to not only affect our family unit and our extended family unit, but to make an impact on the world at large," said
When Richter heard a family was coming to
Because babies with the condition look so strikingly similar, Richter said every time she sees one, it's like looking at the face of her own son all over again. The vivid memory of her clutching Charlie outside the dentist office comes rushing back. Seeing Andrew, she said, is a similar moment she will never forget.
"It was such an incredible blessing for me to be there," Richter said, "and to have this notion that the journey that started for us 30-plus years ago, could possibly be so much different for him."
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