From the moment she first laid eyes on her daughter, Rachel Petties knew something was wrong.
“Alani was all muscle,” she recalls. “She had no body fat whatsoever. Her head size seemed abnormal, and her belly was very large. She was stiff and cried all the time.”
It was the beginning of a difficult journey.
“I ended up dragging my infant baby girl in and out of hospitals, doctor to doctor, specialist to specialist,” Petties says. “All the stares, the comments, the complex looks of uncertainty. You have no idea what loneliness is until you have to pack your child up and hop on a plane and trust someone to help you when you know no one else believes you.”
Receiving the diagnosis
In 2015, Alani was clinically diagnosed with congenital generalized lipodystrophy.
“My world crashed, and I’m still recovering from the loss,” recalls Petties, a single mother of five. “Receiving her diagnosis was a bittersweet moment — my suspicions were confirmed, but I was very sad because what was wrong with her was worse than I expected.”
Alani, now 4 years old, was enrolled in a long-term clinical trial program at the National Institutes of Health to evaluate her treatment and find improved ways of treating the disease through pre-screening and other medical advances. The hope is to prevent future complications by identifying and addressing problems early on.
“She’s a patient for life,” says Petties. “I’m extremely encouraged. Alani has elite specialists studying her case. She’s monitored closely and watched by top professionals in the field.
“We have to travel once a year to Bethesda, Maryland for a host of tests that usually last two to three days. It’s a very stressful time for us, but we know it’s necessary.”
Finding the strength
Petties’ days are long and exhausting. She must prepare special foods for Alani and is the only family member trained to administer crucial injections.
“It’s very isolating, and I’m afraid of what will happen if I’m ever physically unable to give her this medicine,” she says.
Restricted mostly to the indoors, Alani can be awake for 24 hours and sleep for 15 hours straight. Her home must be bleached daily to fight germs, and she must be monitored for excessive eating.
“Before gaining some control over this disorder through the clinical trial she’s currently on, she would eat the paint off the walls, erasers, socks and soap,” Petties says
Although she’s cut back dramatically to focus on her kids, Petties is committed to getting the word out about lipodystrophy.
“I woke up every morning with the mentality to outrun this disease,” she says. “I ran state to state, city to city, advocating with every ounce of life in me. We marched in Washington and visited senators’ offices, petitioning for their help.
“Sometimes you’ll want to fight, other times you won’t care one bit. I had to teach myself that it’s important to be okay with all those emotions and just get through the day, because every day Alani wakes up is another day this disease didn’t win.”
Alani, who enjoys dancing and performing karaoke, knows she’s different and doesn’t care, according to her devoted mom. And although weary, Petties herself finds beauty in the darkness.
“I am rare,” she says. “I am a mother of a child who holds a title of 1 in 10 million. That by far is nothing to be sad about. She is incredible and unique, and she’s all mine.”
Cindy Riley, [email protected]