Little girl beats odds of serious genetic disease

Times Leader Correspondent

WILKES-BARRE - Unable to support her head, 13-month-old Skylar Saranchuk must be cradled like a newborn in the arms of her mother, Tracy Murray.

The blond-haired little girl has spinal muscular atrophy, a genetic disease that causes progressive muscular degeneration. Although Skylar's symptoms have worsened in recent months, Murray, 24, said her daughter is outliving her expected life span. "For as many problems as she has gone through, she's pulled through."

Skylar was diagnosed with Type I SMA, also known as Werdnig-Hoffmann disease, after she had abnormally tense muscles at 4 months old. Murray and Skylar's father, Dave Saranchuk, began to notice other symptoms, such as Skylar's inability to hold up her head. "She didn't reach any of her milestones as a baby," Murray said.

According to Murray, 80 percent of children with Type I SMA, the most serious form of the disease, do not live to see their first birthday. Skylar celebrated her birthday June 3, but her first year was full of turmoil. She's undergone three surgeries, the most recent to put a tube in her abdomen that allows her to be easily hooked up to IVs. Bruises on her arms and legs show signs of previous IV sticks.

Embraced by her mother's arms, the young girl's blue eyes darted around their Sheridan Manor apartment as Murray discussed her daughter's disease. Infants born with Type I SMA typically are weak from thin muscles, and feeding and breathing problems. Skylar suffers both. A tube feeds her amino acids and vitamins intravenously. An oxygen machine stands nearby to aid her breathing.

Children born with Type II SMA have less severe symptoms as infants but become progressively weaker with time. Type III is the mildest form of the disease, and often symptoms don't appear until the child is 2 years old.

According to Families of Spinal Muscular Atrophy, one in every 40 people are carriers of the disease and one in every 6,000 live births are affected. "It can happen to anyone," Murray said.

Unable to cry, Skylar makes a weak whimper as Murray prepares to put an oxygen tube over her mouth to aid her breathing. Skylar's tiny finger and toe nails are painted a shiny pink, matching the shade of her mother's nails. "She loves to have her nails done," Murray said.

Skylar has been in and out of the hospital since her diagnosis, and Murray said she's been lucky that her insurance has covered her daughter's hefty medical bills. But the Wilkes-Barre woman wants to raise money to help with SMA research. She is planning a fund-raiser for September, possibly a walk in Kirby Park.

Despite all of the hardships of her young life, Skylar remains bright and sociable. "She loves Elmo," Murray said, as her daughter's eyes followed the Sesame Street characters on television.

Skylar's weak muscles prevent her from picking up toys on her own, but she loves when her mother helps her move objects, Murray said.

Skylar needs constant attention. Murray used a suction tube, similar to tubes used in dentists' offices, to remove excess saliva that Skylar could choke on. About 10 minutes later, she needed to use it again. Murray rarely leaves her daughter and feels uneasy when nurses help care for Skylar several nights a week. "My life revolves around her. I don't have a social life anymore," Murray said. "But that's my choice. I'd rather stay with her."

Although Skylar is doing well for her condition, Murray is cautious about making long-term plans. "I just hope that she's still alive."

If Skylar does live through her first four years, which Murray says are the most difficult, her mother wants to give her as normal a life as possible, letting her play with other children. But for now, Murray is content that Skylar is overcoming a recent sinus infection. "She's starting to smile again. I didn't see her smile for a month."

For more information about Murray's fund-raiser, call her at 826-6840.

Alison Kepner, a Times Leader intern, can be reached at 829-7250.

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