FERNANDINA BEACH, Fla. — They’re known as orphan illnesses, conditions so rare they’re found in fewer than 200,000 people worldwide.
A Fernandina Beach girl is suffering from a condition she shares with just twenty-one other children in the world.
For her parents, it’s made the search for answers extremely challenging.
They’ve been to countless doctors and tried everything from occupational to speech to behavioral therapy, and they will soon try a new therapy.
“Everybody's normal is different,” Larry Rutland said. “This is our normal.”
Raising two young daughters with different genetic disorders has created a new normal for Larry and Ashley Rutland. They spend much of their time taking their girls to see specialists and to therapy sessions.
Four-year-old Anna Leigh was diagnosed last year with an unrelated genetic condition.
“She was progressing normally, up until she was about 13 months old. And she started regressing,” Ashley Rutland explained. “And then she just got worse and worse. She started losing her words.”
Genetic testing revealed an extremely rare genetic condition. “It’s called ATP6V0A1. There are only 21 people in the world with it, and we don't even know who they are or anything. I wish that I could talk to a family with it,” Ashley Rutland said.
Anna Leigh has seizures that medicine can’t always control and a sensory processing disorder. She tends to avoid loud noises. Her mom says she has an absolute fear of riding in the car seat, which makes it difficult to go places due to the constant screaming and crying.
The condition causes her to grind her teeth nonstop. She's also been diagnosed with autism, epilepsy and a brain malformation called pachygyria. “She also has pica, which she puts everything in her mouth, anything that she sees she's going to put in her mouth. So she eats a lot of non-food items,” Ashley Rutland said.
The Rutlands are unsure of what the future holds.
“Just constantly seeking answers, just to have my little girl live the most normal life that she can because as a mom, that's what you want for your children,” Larry Rutland said. "The hardest thing for us as parents is that she can't communicate effectively enough to let us know what's bothering her when she cries."
Her sister, 5-year-old Allie Kate, has Neurofibromatosis which caused a tumor on her optic nerve. Doctors are keeping a close eye on it because if it grows it could create pain, vision problems and press on her brain, in which case they would recommend chemotherapy to shrink it.
While they search for answers, they hold on to hope.
“I will never give up fighting for my girls,” Ashley Rutland said. “One day at the time and with the Lord's help. My prayer is that both girls just keep getting better every day doing everything that we can to make them live a normal life.”
The Rutlands are taking Anna Leigh to a chiropractor in Louisiana for an intensive week of therapy considered investigational by insurance companies that will cost them about $10,000 out of pocket.
They've set up a GoFundMe to help with their daughter's medical expenses.