Avella toddler living with brittle bone disorder
AVELLA – Jolene Moore and her husband, Jonathan Stokes, will never forget the doctor’s parting words: “Just know he will always be broken.”
The doctor was talking about their infant son, Silas Stokes, who was born Aug. 8, 2012, with Osteogenesis Imperfecta, or brittle bone disorder.
Although Silas will always be at risk for broken bones, they were harsh words to hear. But they certainly explained why Silas constantly screamed and cried for the first 12 days of his life.
After all, Silas was born with 23 fractures to his ribs, femurs, left foot, right clavicle and skull, plus a compression fracture of the spine. Even the slightest movement typically associated with an infant resulted in excruciating pain.
“We were grabbing his ankles and lifting him when we changed his diaper. We were doing that not knowing his bones were broken,” Jolene said.
Because OI is so rare, many health-care providers, according to the Osteogenesis Foundation, may never have treated an infant with the disorder. As a result, the Hopewell Township couple did not immediately receive a diagnosis, even though Silas was born with a “squishy” head, one of the symptoms of OI, and his right humerus was cracked in utero. It had healed, however, before he was born.
It wasn’t until the day they left the hospital with their son that the couple received some direction – and hope. A woman in Wheeling, W.Va., whose son was born with OI, learned of Silas’ condition through a complex network of Facebook friends and called Jolene and Jonathan. She offered them whatever information they might need.
“We were so, so lucky,” Jolene said. “She came to our house with dinner and all her contacts. She was our shining beam of light.”
In recognition of OI Awareness Week, May 4-12, a fundraiser is being held today from 9 a.m. to 4 p.m. at Third United Presbyterian Church, 22 Cortez Drive, Washington. Proceeds from the rummage sale, baked goods and food will be divided between Silas for his continued medical treatment and the OI Foundation.
There are as many as 12 types of OI, and Silas has Type VIII, one of the newer forms of OI. It is caused by a mutation of the LEPRE1 gene and is a recessive form found in those of African-American and American Indian descent and Irish gypsies. Jonathan Stokes is African-American and Indian; Jolene Moore is Scotch-Irish. The couple’s 3 1/2-year-old son, Isaiah, has shown no signs of the disorder.
Jolene said there are just three confirmed Type VIII cases in the United States. According to the OI Foundation, brittle bone disorder is characterized by a severe growth deficiency, extreme under-mineralization of the skeleton, short limbs, small chest and soft skull.
Silas, who will turn 9 months old next week, has been fracture-free for quite some time now, thanks to his parents’ tender care, physical and aqua therapy, bimonthly pamidronate infusions and nutrition counseling – all designed to strengthen his muscles and promote bone growth.
“He likes to be up and standing, but he doesn’t do a lot of standing because his femurs are bowed,” said Eric Moser, a physical therapist who has been working with Silas since the toddler was 6 weeks old.
“We work on strengthening, and we encourage movement,” Moser said. “We’re working on getting him in and out of a sitting position safely. He’s mobile on the floor. He spends a lot of time on his tummy, and he’s starting to push up.”
Moser said aqua therapy, which Silas began three months ago, has been “amazing for him” and is the most recommended therapy for those with OI. The water, Moser said, offers support and resistance Silas cannot get elsewhere.
“Everything he can do on land has been taught and produced in the water,” said Jolene, who is hoping to bump up his weekly aqua therapy sessions to twice a week at the Children’s Therapy Center of the Washington Health System.
The pamidronate infusions, which Silas receives for three consecutive days, also have been very beneficial, Jolene said. They help relieve his chronic pain and reduce the risk for fractures.
“He gets so much energy, and he’s perky after he receives them,” she said. “As it gets closer to his next treatment, he gets tired more quickly.”
Since Silas’ body is so fragile, a number of precautions constantly have to be taken. Silas must be “scooped” instead of lifted by his armpits to be picked up, and his parents must roll him from side to side to change his diaper. Automatic blood pressure cups and tourniquets cannot be used when treating him, and all of his clothing must contain snaps because shirts cannot be pulled over his head. When he’s hospitalized, a “Fragile: Handle Me With Care” flier containing a litany of instructions is attached to his crib.
He tends to perspire quickly, so he uses muslin blankets, which are “breathable,” and he’s beginning to develop digestion problems, which requires a special chair for feeding. He is bathed in a cushioned tub, and a foam jigsaw-puzzle rug provides the cushion he needs on the family’s hardwood living-room floor.
Jolene said it would be difficult for the family to handle Silas’ constant care if it weren’t for the support of OI online chats, the OI Foundation and the community of her hometown in Avella. “We have a huge team of support,” she said.
In late June, Jolene and Jonathan have a consultation with specialists in the OI Tiny Bones program at Omaha Children’s Hospital, where, pending insurance authorization, expandable metal rods will be surgically inserted into Silas’ legs.
“Without the rods, walking is probably not an option,” Moser said. “He’s such a risk for a fracture because his femurs are so curved.”
Moser has worked with children diagnosed with mild to severe OI. He said each type is different, and even though Silas’ type is so rare and severe, he’s doing very well. Moser said it’s going to be a struggle to protect Silas once he becomes more active.
“He’s an extremely curious child,” Moser said. “He’s been a lot of fun to work with.”