It's not a question of whether Rachel and Sarah Ping will die, it's a matter of when. The 14-month-old identical twins have a rare, fatal disease, so "every day is a gift," their mother says.
The twins have Werdnig Hoffman disease, also known as Type I spinal muscular atrophy. It is inherited, occurs in one of about 20,000 children, and has no known cure.The afflicted have too few of the nerves that connect to muscles, so as they grow, their muscles deteriorate. Eventually, they can't breathe. Few live past the age of 2.
"At this point, the goal is to keep the babies comfortable for as long as possible," said Dr. Marilyn Bull, who is helping treat the girls.
The twins are in stable condition now, but their muscles already are too weak for swallowing. They are fed through tubes inserted in their noses.
"When things start getting uncomfortable for the girls, that's when I will stop medical procedures," their mother, Marcia Bunn-Ping, said Monday. She did not elaborate.
There is no test to screen potential parents for the trait, said David Franz, assistant professor of pediatrics and neurology at the University of Cincinnati, who is working on a drug to combat the disease.
Rachel and Sarah joined Franz's drug study in August but dropped out after developing pneumonia in September. The study involves a hormone that is promising in animal tests, but results on 10 other humans aren't complete.
"It's the worst thing in the world not to be able to help your babies," Bunn-Ping said. "We just take one day at a time."