STAPLES -- By all outward appearances, 6-year-old Austin Hirschey is a healthy energetic boy.
There are headstands on the couch. Shy behavior in front of strangers. Kisses from a baby brother. And expressive joy at getting a virtual green Frogger safely across several lanes of highway. Typical behavior.
Yet Austin can expect to have about 100 broken bones, most before adolescence.
Born with the brittle-bone disease osteogenesis imperfecta, or OI, Austin was first diagnosed when he was about 3 years old. His parents, Nicole and Todd Hirschey, were mystified by the diagnosis.
"We were like, 'What's that?'" Nicole said. "We still didn't know what it was. ... I guess I got more worried about it the more I heard and you start to think was it something we could have prevented -- but it wasn't."
About one in every 30,000 births is within the total OI diagnosis, which has at least four types. Austin has a mild form. The brittle-bone disease is inherited or comes from a gene mutation.
Dr. David Tilstra, Centra Care Clinic in St. Cloud, who treats children with OI, including Austin, said that guilt reaction from parents is typical.
"Many parents feel that way whenever there is a birth defect," Tilstra said. "It is completely what we would call an accident. Part of what we do is reassure parents there is nothing they did or didn't do during pregnancy to bring this on."
Some cases of OI are lethal. Newborns may show healing fractures that occurred in utero. In severe cases, breathing and muscle contraction can be enough to break bones.
The OI diagnosis can be visible in the form of dark-tinted sclera, or what is commonly called the white of the eye. Austin's sclera is strikingly blue.
He appears to be as sturdy as any active 6-year-old. But beneath the skin his bones are more fragile. He has a low pain tolerance. He bruises easily. And he has a mild limp. When he does break a bone, he will need to be in a cast a little longer than usual.
So far Austin has broken his right leg three times. Once the youngster's break occurred just by putting his foot down to act as a break while riding on a child's toy in the yard.
Two years in a row the break occurred on the same day in May and meant a summer of restricted activity in a leg cast.
"You feel so bad," Todd said. "And there is nothing you can do about it."
"He's very active and it's hard," Nicole said. "The specialist said treat him as normal as possible, which is hard to do."
No contact sports are advised, which may be hard for a boy who already loves baseball and football. And the prospect is hard for his dad who also enjoyed sports throughout his own school days and looked forward to sharing that experience with Austin.
"It's discouraging," Todd said, later noting an X-ray helped reveal the difference in Austin's bone structure compared to an average child. "The bones are not even a third of the thickness of a normal leg and the bone was actually bowed.
"It could be a lot worse, but it's bad enough. But it doesn't hold us back too much. You can't hold him back too much, you have to let him explore."
And his parents worry about his future from dating one day to the predicted hearing loss in his 20s or 30s. Little bones in the ears can break, the collagen may be reduced in the ear drum itself and skull bones can crush nerves. Austin also has a 50/50 chance of passing the disorder to any future offspring.
With so few people familiar with the disorder, Austin's parents also worry about how others react to their young son when they learn of his condition.
"We don't want them to treat him differently," Nicole said. Teachers have been asked not to make keeping an eye on him an obvious event.
While Austin's never said much about it, he did return from a field trip and said he never wanted to go on one again.
Many people are unfamiliar with OI. But osteoporosis imperfecta made headlines this past summer when a Rosemount couple was accused of child abuse. The parents pointed to an OI diagnosis.
"It happens," Tilstra said. "That is one of the horror stories. It certainly has happened more often than it should."
But Tilstra noted it has also been used as an excuse and each case needs to be carefully examined. On the positive side, Tilstra said one breakthrough on the horizon is the potential of a drug used for women with osteoporosis.
"The data I've seen has been looking pretty good," Tilstra said, noting the experience with the drug so far shows it can decrease chronic pain and fractures. The drug is expected to be available within the next five years.
"I'm really concerned about the hearing loss," Nicole said. "But I keep thinking maybe by the time he's that age, they'll have something."
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