Adjusting to a Genetic Disease: Life with Osteogenesis Imperfecta
As a parent, you envision that all your children will be “normal”. No genetic defects, intelligent, smart, normal kids… and yet it doesn’t always turn out that way. When I got married I knew my husband had a mild form of Osteogenesis Imperfecta (Type I for those interested). I grew up being friends with him and his family. He broke three bones before the age of 5 and that was it. In both of our minds, OI seemed to be a “you break a few more bones than normal” and that was the extent of it. And to all outward appearances, that really is the extent of it. For example, my husband leads a totally normal life in every way. My son looks normal and acts normal and (unless you were a doctor and knew what you were looking for), you would never guess that a fall for him could break a bone. We knew, of course, when we got married that we had a 50% chance of passing it on to our children but in our naiveté we kind of just assumed that wouldn’t happen.
We had our first child 13 months after our wedding. A beautiful bouncy fat little girl. She’s about as rough and tumble as a kid can be. And no OI there. I got pregnant with our second when she was 9 months old, a beautiful cheerful little boy and when he was 18 months old, we got pregnant with our third, who turned out to be another bouncy little boy.
Our second son was almost 2 and I was halfway through our third pregnancy when it happened. He slipped on the floor and broke his right leg (a tib-fib). And then two months later, he slipped again and broke his right femur. Reality started to set in. Based off his genetic history he was diagnosed with OI Type 1. And we still thought.. ‘oh, that will probably be it’. We were extra careful. We cut off the feet of the footie pjs which he had slipped in, we made sure slippery surfaces didn’t happen, and we did our best to let him be a kid. Our 3rd child was born, we made it through the year and the next summer. We went to Europe for 3 months and nothing happened (which I now view as not only a blessing but a miracle) and two weeks after we got home he broke his right leg again. Two days before he got that cast off, in a weird incident which shouldn’t have been a problem, he broke his left leg. And two days ago on the first day of 2018, he broke his right leg again.
And reality is continuing to set in. He’s barely 3 years old and has broken 5 bones. And although we don’t have an official diagnosis, we (and our doctor) are pretty sure our baby has it too. (In case someone is wondering, testing for this disease takes a REALLY long time to get results back)