Lucia's nursery is the first thing visitors see upon entering the Ferlita home. • Pale pinks and yellows cover every surface. A closet overflows with ruffled dresses. And toys are strewn about. • In the middle sits 1-year-old Lucia, her brown hair tied in pigtails, purple polka-dotted bows affixed to each one. • Her face is expressionless as she watches cartoons. She doesn't seem to notice the cords or tubes sprouting from her 23-pound body, nor the soft, constant whoosh of the ventilator that helps her breathe. • But when her mother sings, her eyes light up. • Before the last strain of Twinkle, Twinkle, Little Star, Lucia signals for more, using sign language to communicate. • Lucia was born with a disorder that results in muscle weakness. It affects her lungs, body movements and facial expressions. She can't eat or walk so she is pushed in a wheelchair and fed through a tube. • The ventilator makes it impossible for her to speak. Instead, she uses sign language to say the few words she knows: Mom. Dad. More. • Despite extensive genetic testing, doctors haven't been able to pinpoint the cause of the disorder or why it's happening, said Lucia's mother, Lisa Ferlita. Without a diagnosis, there is also no prognosis.
They do know one thing, though. They are the same symptoms their son, Vincent, suffered from. He died in 2011 at 6 months.
"The autopsy didn't show anything," said Ferlita, a former dance teacher who now stays at home. "We were told that it was most likely a chromosomal fluke."
So the couple decided to have another child.
Lucia appeared healthy at first. But at 10 weeks, she stopped eating. Then, a procedure to obtain a muscle biopsy left her unable to come off oxygen.
The realization that Vincent's disorder was developing in Lucia was devastating for Ferlita, 37, and her husband, Russell Ferlita, 35.
"All the feelings of the night when we lost our son came flooding back," Lisa Ferlita said. "I remember being on the floor of a public bathroom sobbing because I just couldn't deal with it."
But there have been small victories.
Lucia celebrated her first birthday in October. She can smile, subtly. Her mind seems to be developing normally.
"She can't drop a toy and go get it like other children her age," Lisa Ferlita said. "But, she is interactive."
Lucia spends most of her days at home. The process to take her anywhere is complicated and time-consuming, requiring the transfer of vital equipment.
An in-home nurse helps care for Lucia 18 hours a day, allowing for a few private moments for Ferlita and her husband to have alone with their daughter. A physical therapist and speech therapist come to the house each week.
The couple's private insurance, through Russell Ferlita's job as an engineer, covers much of the costs. They count on Medicaid to help cover the gaps.
Doctors continue to do genetic testing, Lisa Ferlita said, and are consulting with physicians around the world in an effort to understand Lucia's condition.
The biggest fear is the unknown.
"We have no idea how the disease will progress because we don't know what it is," she said. "Knowing only the outcome of Vincent, we are petrified every moment for Lucia."
The couple would also love to grow their family, Ferlita said, but another child is out of the question until they know whether the disorder can be prevented.
For now, the couple is focused on giving Lucia a wonderful life and hoping an answer will come along soon.
"We hope she grows out of this," Ferlita said. "But, until then, we just want her to be happy."
Shelley Rossetter can be reached at firstname.lastname@example.org or (813) 226-3401.