Corbett proclamation puts focus on bone disorder Hopewell boy continues infusion treatments
Twenty-month-old Silas Stokes, son of Jonathan Stokes and Jolene Moore of Hopewell Township, fractured his skull in February and must now wear a helmet.
Silas was born with Osteogenesis Imperfecta, or brittle bone disorder, and must sleep in a cushioned crib to decrease the risk for fractures.
Silas Stokes and his family made their scheduled trip to Nemours/Alfred I. duPont Hospital for Children in Wilmington, Del., from their Hopewell Township home last week in very good spirits.
They had learned before they left that Gov. Tom Corbett had signed a proclamation recognizing May 3-10 as National Osteogenesis Imperfecta Awareness Week in Pennsylvania, joining just nine other states, plus Washington, D.C., in doing so. Raising awareness, Jolene said, is so important for families dealing with OI, or brittle bone disorder, especially since there is no cure.
Twenty-month-old Silas was introduced to Observer-Reporter readers last May. A month later, he began receiving infusions every other month in Delaware to reduce the frequency of his fractures and promote bone growth and healing.
“He is doing awesome,” Jolene said during a telephone call from Delaware shortly after Silas received an infusion during his most recent round of treatment. “He’s climbing steps, walking and running.”
Silas’ increased activity, however, also makes Jolene a bit apprehensive because she can no longer control every situation.
“I’m grateful that he’s walking now, but it’s a lot scarier now than when he wasn’t mobile,” she said. “He’s outside running around like a nut.”
When Silas was born in August 2012, he had 23 fractures to his ribs, femurs, left foot, right clavicle and skull, plus a compression fracture of the spine at birth. Even the slightest movement typically associated with an infant resulted in excruciating pain.
Because OI is so rare, many health-care providers, according to the Osteogenesis Foundation, may never have treated an infant with the disorder. So Silas’ mom and dad, Jonathan Stokes, handled him no differently – at least at first – than they did their 4 1/2-year-old son, Isaiah, when he was born.
Once a diagnosis was made, Jolene and Jonathan had to take special precautions to protect their son’s fragile body. Silas has to 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 list of instructions is attached to his crib.
Since his legs are so short, he needs a high chair and stroller equipped with a harness and cushioned sides so he doesn’t fall out, and his crib is cushioned as well.
In addition to the infusions, Silas continues to receive physical therapy, which he started when he was just 6 weeks old, aqua therapy and speech therapy, which includes learning sign language.
Despite the treatments and precautions, Silas still sustains two to three fractures every few months, and in February he fractured his skull. Neither his parents nor his doctors know how he fractured his skull. Silas must now wear a helmet.
“He gave us no indication he was in pain. He was playing, then climbed up on his dad, started crying and went gray,” Jolene said.
He was taken by ambulance to Children’s Hospital of Pittsburgh, where doctors said it wasn’t unusual for those who suffer skull fractures to have a delayed reaction for up to 24 hours.
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 is African-American and Indian; Jolene is Scotch-Irish.
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, and can lead to other serious chronic medical conditions, such as muscle weakness, joint laxity, fragile skin, hearing loss, brittle teeth, fatigue, easy bleeding and bruising, scoliosis, pulmonary disease and cardiovascular disease. Those with mild OI may experience a few fractures in their lifetime; those with severe forms may have hundreds. It is estimated that OI affects between 25,000 and 50,000 people in the United States.
Jolene said Silas will continue to receive the bimonthly infusions until he’s about 18 years old. Maybe by then, he will become used to the treatments.
“As soon as the nurses head our way, the anxiety kicks in and he’s screaming,” Jolene said, noting that the initial port access is difficult for Silas.
But once he is hooked up, “He is good to go.”