For many people, a broken bone would severely interrupt their life. But six-year-old Avery Balcazar has learned to live with it—even when it’s tough. As reported by CBC News, Balcazar has a rare condition called osteogenesis imperfecta (OI) that causes her bones to be fragile and easily broken. In fact, at her early age, Balcazar has already been hospitalized 82 different times for broken bones or fractures. She frequently receives treatments to strengthen her bones and has also gotten metal rods placed into her legs to keep her bones stable.
Despite her situation, Balcazar holds a sunny outlook and a beautiful disposition on life. She aims to be an advocate, even sharing OI information and her own story with her classmates. And in the future, Balcazar even hopes to study medicine and become a doctor. Her experiences have taught her what it means to be a patient; as a future physician, she hopes to fill the gaps and the needs, and make the process smoother for everybody.
About Osteogenesis Imperfecta (OI)
There are four main subtypes of osteogenesis imperfecta, a rare genetic disease that affects connective tissue. COL1A1 or COL1A2 gene mutations alter how type 1 collagen is produced in the body. Normally, this collagen strengthens bone and connective tissue, as well as provides stability and maintains function. Most children inherit these genes from their parents. However, in rarer cases (like Avery), the mutation occurs spontaneously.
Because there are different subtypes of OI, symptoms and manifestation often differ based on subtype. For example, 50% of those affected have type I, which is considered mild. Type II is more severe. While people with OI may have a variety of symptoms, potential common symptoms can include:
- Blue sclera (a bluish discoloration in the whites of the eyes)
- Short stature
- Triangular-shaped face
- Malformed ribs and long bones
- Low birth weight
- Hyper-extensible joints
- Hearing loss
- Brittle teeth
- Hypotonia (low muscle tone)
- Hearing difficulties
- Scoliosis
There are no cures for OI. Treatments aim to manage symptoms, including surgery, bisphosphonates, bracing, and casting.
