Genetic Disorder Stops Girl From Aging
At first glance, Gabby Williams looks like an infant in the arms of her parents. However, much to people's dismay, Gabby, the little girl from Billings, MT, is actually already eight-years-old. At this age, girls are typically walking about, enjoying play times with friends and learning new things every day at school. Due to an extremely rare genetic disorder that dramatically slows down her aging process, Gabby is still totally dependent on her parents, who must change her diaper, feed her and help her with almost everything. Gabby's condition, seen only in a few other known cases, has intrigued researchers. For one doctor, in particular, he has devoted his research on this disorder.
"My whole career has been focused on the aging process. My fixation has been not on the consequences but the cause of it," Richard F. Walker stated according to ABC News. Walker currently researches this condition at All Children's Hospital in St. Petersburg after retiring from the University of Florida Medical School.
In the case of little Gabby, her body has pretty much remained the same since the day of her birth. Her mother, Mary Margaret Williams, 38, stated that her daughter has only gotten slightly longer within the time span of eight years.
"Gabrielle hasn't changed since pretty much forever. She has gotten a little longer and we have jumped into putting her in size 3-6 month clothes instead of 0-3 months for the footies," Mary Margret said. "Last time we weighted her she was up to a pound to 11 pounds and she's gotten a few more haircuts. Other than that, she hasn't changed much."
Gabby is just one of a very limited group of people with this rare genetic disorder that scientists and doctors have yet to coin due to the rarity of the disease. The other two cases of this rare genetic disorder involve a 29-year-old man from Florida who still looks like a 10-year-old and a 31-year-old woman from Brazil who is around the size of a two-year-old. Researcher Walker has been following all of these cases for years, hoping to understand how the disorder manifests and how it works.
"In some people, something happens to them and the development process is retarded," explained Walker. "The rate of change in the body slows and is negligible."
Walker explained that for humans to grow normally, there must be development inertia, otherwise known as physiological change. This process is vital for the body to reach maturity. When that does not occur normally, the body remains in a state of chaos and growth could become stunted. Walker believes that identifying the genes responsible for this condition could open up more research about the aging process.
"If we could identify the gene and then at young adulthood we could silence the expression of development inertia, find an off-switch, when you do that, there is perfect homeostasis and you are biologically immortal," Walker explained.
In 2011, there was a television special on TLC titled, "My 40-Year-Old Child," that chronicled the life of 40-year-old Australian, Nicky Freeman who looked like a 10-year-old boy. Since that hour-long documentary, scientists discovered the Floridian man and Brazilian woman who also suffered from this condition. These two recent cases along with Gabby's will be a part of a new documentary on TLC that airs tonight at 10 p.m. ET.