The abbreviation for Osteo-genesis Imperfecta is, O.I. Generally, it causes brittle bones that can break from too hard a sneeze to a simple stumble. Type 2 O.I. can cause miscarriages and stillbirths. Other types can cause infants to be born with broken or dislocated limbs. There are an estimate 20,000 to 50,000 people in the U.S. living with O.I. For simplicity’s sake, if you understand what Osteoporosis is, you could think of O.I. as being like that. You could also watch Discovery Health’s Channel’s, “Children of Glass,” documentary or M. Night Shyamalan’s “Unbreakable” and see a fictionalize depiction of this disorder.
The primary difference between Osteoporosis and Osteo-genesis Imperfecta is, Osteoporosis is the result of a deficiency in calcium and is more prevalent in those of a certain age. O.I. is caused by a deficiency or improper collagen and people are born with it, it doesn’t develop over time. Collagen is a protein in making connective tissue. Think of it like this, you hire a contractor to build you a house. He decides to make the cement, needed for your house’s foundation, stretch; so he waters it down or doesn’t use cement at all. Your foundation is weak and so everything put on top of it will be unsteady and prone to collapse. Translating this over to the bones of those with O.I., calcium and other bone-building ingredients cannot lay or set properly because the collagen (cement foundation) is watered down or missing. As of yet, there is no way to enhance, inject, or restructure improper collagen.
There are various treatments, such as ‘rodding’ which consists of inserting a metal rod inside the bone for added strength and support. There are also a variety of relatively new and experimental medicines thought to aid bone strength. Most of the medicines were designed to treat Osteoporosis in an older population; so I suggest extensive research and discussion with an Orthopedic specialist, Geneticist or Endocrinologist before deciding on a medicinal treatment. Although, evidence of O.I. existence is far-reaching, the disorder has only been named and specifically researched for the last 30-years or so. Other ways of managing fractures are with a nutritious diet that supports bone and muscle health, maintaining a healthy weight, and regular, GENTLE exercise, especially swimming and aqua-therapy.
In recent years the types of O.I. have expanded from 4 to 8. Not all types of O.I. result in fragile bones; sometimes a person has joints prone to dislocation, poor hearing or weak teeth. Some research suggests that boys exhibit O.I. symptoms later in life; while the symptoms in girls lessen as they start menstruating and estrogen levels increase.
O.I. does not affect intellectual capabilities, although when an injury or surgery makes attending school impossible school-districts must make custom arrangements. Broken bones can be dangerous, and are painful but people with O.I. lead successful, independent lives with careers, spouses and children of their own.
The inheritance rate of O.I. depends on whether the O.I. gene is the result of a gene mutation or a dominate-recessive gene popping up, but typically it’s about 25% per-birth-from a parent with the trait. For more detailed understanding please consult a Geneticist. For more information please read the information on the accompanying links.