SAN ANTONIO — A three-year-old is battling a rare disease with no treatment or cure.
The military family of five had their lives change when their three-year-old daughter Aubrey started showing symptoms of a rare gene mutation.
Aubrey O’Sullivan is a high-energy girl who spends a lot of time playing, doing arts and crafts and loves her puppy Biscuit and her two brothers Zachary and Brandon.
“She loves to be at the center of attention, she’s always just our little princess,” Aubrey’s mom Allison says.
Allison O’Sullivan was in the Air Force and Marcus is a senior NCO in Air Force serving at Lackland Air Force Base.
O’Sullivan is now a stay-at-home mom who home schools her children. Aubrey became a fan of playing video games and her favorite superhero Spider-Man.
“Whatever the boys are into, she wants to be a part of,” she said.
Chasing her brothers around is common—but in March, she started slowing down.
“In the afternoon she randomly developed a limp in her leg...We noticed pretty quickly after that she was starting to feel a little weaker, we would hold her, she felt more like a ragdoll,” O’Sullivan recalls.
Their search for answers was difficult.
After unsuccessful visits to a doctor and neurologist—they got genetic lab work done. In late April she received a diagnosis of juvenile dermatomyositis, but quickly learned the diagnosis was incorrect. A genetic lab test showed Aubrey had a variance in her FHL1 gene called reducing body myopathy.
The little information found on the disease, with only 30 known cases, shattered their world.
“It’s rapidly progressive in children, and it has a prognosis of age five, so time is not on our side to find a treatment,” O’Sullivan said.
In six months, Aubrey has had 52 doctors appointments, 9 different specialists, and a weekly chemo shot, all while dealing with a weakened immune system.
As tough as its been—she remains a happy three-year-old girl. As tough as it is for Allison and Marcus to watch their daughter lose ambulation, they say it’s not affecting her mentally.
“She’s not frustrated anymore asking, 'why can’t I?' She’s just saying, ‘okay, I need help,” Allison said.
“When she knows that we’re going in for the infusion because its so many shots…she gets a COVID test each time before we go. So that’s rough on her, but she calls it nose tickles,” Marcus adds.
They started the Aubrey O’Sullivan foundation in hopes to fund research for a treatment.
Despite the unknowns—the O’Sullivan’s want to do all they can to make things easy for their kids.
“Her brothers, they don’t know what exactly is going on yet. They just want her to get better,” Allison said.
The diagnosis will force the O’Sullivan family to make drastic changes, including moving to a home that is ADA accessible, buying a wheelchair accessible van, and other financial demands associated with her treatment.