Family searches for answers to daughter’s rare genetic disorder

Four-year-old Anna Leigh is one of only 21 children in the world to be diagnosed with a rare genetic disorder.

FERNANDINA BEACH, Fla. – They are known as orphan diseases, conditions so rare that they are found in less than 200,000 people worldwide.

A girl from Fernandina Beach suffers from a condition she shares with just twenty-one other children in the world.

For her parents, it has made the search for answers extremely challenging.

They have been to countless doctors and tried everything from ergo- to speech- to behavioral therapy, and they will soon try a new therapy.

“Everything normal is different,” Larry Rutland said. “This is our normal.”

Raising two young daughters with various genetic disorders has created a new normal for Larry and Ashley Rutland. They spend a lot of their time taking their girls to specialists and to therapy sessions.

Four-year-old Anna Leigh was diagnosed with an unrelated genetic condition last year.

“She developed normally until she was about 13 months old. And she started going back,” 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 do not even know who they are or anything. I wish I could talk to a family about it, ”Ashley Rutland said.

Anna Leigh has seizures that medication cannot always control, and a sensory disturbance. She tends to avoid loud noises. Her mother says she has an absolute fear of sitting in the car seat, making it difficult to walk places due to the constant screaming and crying.

The condition causes her to cut teeth incessantly. She has also been diagnosed with autism, epilepsy and a brain malformation called pachygyri. “She also has pica, which she puts everything in her mouth, everything she sees, she wants to put in her mouth. So she eats a lot of non-food,” Ashley Rutland said.

Rutlands are unsure of what the future holds.

“Just constantly looking for answers, just to get my little girl to live the most normal life she can, because as a mom, that’s what you want for your kids,” Larry Rutland said. “The hardest thing for us as parents is that she can’t communicate effectively enough to tell us what bothers her when she cries.”

Her sister, 5-year-old Allie Kate, has neurofibromatosis, which caused a tumor on her optic nerve. Doctors keep a watchful eye on it, because if it grows, it can create pain, vision problems and pressure on her brain, in which case they will recommend chemotherapy to shrink it.

As they search for answers, they cling to hope.

“I will never give up fighting for my girls,” Ashley Rutland said. “One day at a time and with the help of the Lord. My prayer is that both girls just get better every day and do everything we can to make them live a normal life. ”

Rutlands is taking Anna Leigh to a chiropractor in Louisiana for an intensive week of therapy, which insurers are considering as a study that will cost them about $ 10,000.

They have set up a GoFundMe to help with their daughter’s medical expenses.

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