Country music star Clint Black has already heard “You’re Fired!” from the Donald on this season’s Celebrity Apprentice. But he’s still considered a big winner by those who are affected by Rett Syndrome.
Black won thousands of dollars for the International Rett Syndrome Foundation. His niece had the condition and passed away.
Doctors say the devastating developmental condition happens in about one in every ten thousand female births. However, many people have never heard of Rett Syndrome.
Dan and Dora Castner of Carlsbad are active in the fight to find a cure for Rett Syndrome, and have a very personal reason to be so devoted to the cause. After years of infertility problems, the Castners were thrilled to become adoptive parents.
"That was our dream come true to be parents of a beautiful, beautiful little girl," Dora Casnter says.
But they started worrying about their daughter Gabriella when she was a little bit behind on her development at about ten months of age. Several months later, Gabriella tested positive for Rett Syndrome.
"And we got back the test and it confirmed positive, so pretty devastating," Dan Castner says. He says it took him a little longer than his wife to see something was wrong.
"And I was always telling her, honey, don't worry she'll grow out of it, she's gonna grow up normally,” he remembers, “But I think the one things I would tell other parents is, don't give up. Because there is a person there, they do understand what is going on around them, and it's tough, but don't give up."
Gabriella is a happy four year old now. She does need help standing and doctors don't expect she'll ever speak more than a few words.
"It's a curious kind of gene problem because it seems to affect girls primarily. And we found, the reason for that is that the boys, when they're affected, are so severely affected that they're usually not born," says Dr. Richard Haas, who has about a hundred Rett Syndrome patients in San Diego, through his work at UCSD and Rady Children’s Hospital.
Researchers discovered it's caused by a gene defect on the end of the X chromosome. For the first few months of life, girls look normal in every way. At around nine months, their development plateaus, and at about eighteen months, the girls often lose language and other skills. As teenagers, some girls end up in wheelchairs.
The Castners don't want anyone to feel sorry for them. They consider themselves blessed.
"She has taught us about strength, about courage. And mainly she has taught me how to see with my heart to other people," Dora Castner says about her daughter, "it gives a whole new perspective about life, about world, about little things in life that people take for granted.”
The International Rett Syndrome Foundation is aiming to raise five million dollars this year for research to find a cure. And Dr. Haas says there is hope. Very recent research shows the genetic problem can be reversed in mice.