Macon Child Suffers from Rare Disease; Mother at Front Lines of Fight for a Cure

MACON, Georgia (41NBC/WMGT) – Ashley Alexander has three healthy children, but her fourth, 4-year-old Lillie, wasn’t so lucky.

“We knew pretty much right away that something was not right when she was born,” says Ashley.

Born with a disease many doctors misdiagnose as autism, Lillie has Rett Syndrome. The disorder is found in only 4,000 people or so across the country. It discriminates mostly based on sex, found on the X chromosome in girls.  Boys who have the disease are almost sure to die from it, since they have only one X-chromosome. Most girls are able to learn basic motor and speech skills, then when the disease sets in, they lose those abilities.

Ashley was shocked to find out her daughter, who hadn’t even spoken her first word yet, had it.

“She was not able to sit up by herself, she didn’t roll over, she didn’t press off of her feet which is a really big indicator that something wasn’t right,” Ashley says.

There’s hope on the horizon for lillie. Doctors in Boston injected lab mice with Rett syndrome, and then were able to reverse the disease with a trial drug.

Ashley just hopes little Lillie can have a fulfilling childhood while they hope for a cure.