More than just fragile

Shelly Rodriguez was 24 years old and pregnant with her first child when she found out she was living with Brittle Bone Disease.

As Shelly sat waiting in the doctor's office at the Moses Lake Clinic that April day in 1992 to find out how far along her pregnancy was, she had no idea she had been living with the disease, also commonly known as Osteogenesis Imperfecta (OI), all of her life.

"I just thought I was fragile," Shelly said of the 10 fractures she suffered between the ages of 4 and 12.

Shelly has not fractured a bone since she was 12, as her fearful awareness of breaking yet another bone was enough to keep her from playing outside with other neighborhood children or joining group activities at school.

Her own parents, very much overprotective at times, often preferred Shelly be carried rather than walk on her own.

"I just watched a lot of TV," Shelly said.

With each fracture as Shelly was growing up, came little or no advice from doctors who were still in the dark themselves about OI. The severe breaks she suffered necessitated that her bones be re-aligned using a method called traction which uses weights to align the bones, a procedure she underwent four times. Her body was placed in a spica cast to immobilize her hips and thighs so that her bones could heal properly.

Life went on as normal for young Shelly, who went to weekly mass at the nearby Catholic Church and later attended Warden High School with no concerns that she had a potentially life-threatening disease.

Even though it has been 13 years since Shelly was officially diagnosed with OI, she remembers that day like it was yesterday.

Thinking of how to tell her husband who she had married just the month before, and wondering about the possibilities of passing it on to her unborn child, was a continuous thought in the back of her mind as she left her prenatal appointment that day.

"How was I going to handle that?" Shelly said.

Told that her child had a 50 percent chance of contracting the illness, Shelly continued through with her first pregnancy with the excitement of becoming a mother.

When Victor was just a few months old, he had not yet fractured, giving Shelly a sense of assurance Victor did not have OI and that she would continue having children.

While pregnant with Victor, Shelly attended a genetics clinic to find out about the predominance of OI in her family.

The most puzzling thing to doctors is that no one on either side of the family has ever had OI, she said.

The final conclusions by doctors at the time of her first pregnancy were that a deformity or rare type of gene occurrence in Shelly's body could have caused OI to develop.

In people with OI, fractures can either occur occasionally with little or no deformity, or result in skeletal deformities and, in some instances, death. There is no known cure for the disease. Fractures occur due to an insufficient or defective supply of collagen, a fibrous protein, resulting in brittle skeletal formations that break easily.

By the time Victor had fractured a bone for the first time, she was already pregnant with her second son, Andy.

Victor, now 12, did contract the disease.

Her decision to continue having children, all of which she had to have via a C-section because of OI, came from a desire to have a large family.

With the birth of her second, third and fourth child, OI was eventually diagnosed in each one. One of those children passed away in January of 1998 due to complications with OI and Trisomy13, a disorder of the human chromosomes.

Not once did doctors advise Shelly to stop having children, and doing so wasn't an option to her and her family.

"We'll deal with it," Shelly said of the continual occurrence of OI in her family. "My bones were brittle, but I was tough."

"It's a very uncommon disease, what we call an 'orphan disease,'" said Dr. Rick Hourigan, a family physician who has been with the Moses Lake Clinic for 14 years.

With less than 200,000 cases in the United States, Hourigan said the disease is genetic with no known cure.

Hourigan advises that the best thing people living with OI can do to live a relatively healthy life, despite not being able to keep physically active, is make regular visits to their physician, be diligent about taking prescribed medications and refrain from high risk activities.

Shelly was told her children had a 50 percent chance of contracting OI. Hourigan emphasizes that it is a statistic applicable to each individual child born, not to a group or family as a whole.

"Every kid has a 50 percent chance," he said of children born to mothers with the disease.