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)
What is Osteogenesis Imperfecta?
OI is considered a rare genetic disease. The frequency is about 1 in 15,000 people and about half of those cases are Type 1. There is no cure. There are several types ranging from mild to severe to lethal… Our children have the mildest form, which I am so thankful for! This means your body makes good collagen but doesn’t make enough. As collagen is one of the building blocks of strong bones, this means that the bones are “fragile rather than resilient”. What could be considered a minor impact for a normal person can break the bone of someone with OI. This is also why OI is called Brittle Bone disease. But even in the mild form, what it looks like can range from individual… some will break dozens of bones, some none, some in-between. It’s weird like that and hard to pin-point why it changes. By the time they reach puberty, the breaks should be less-frequent to non-existent until about the age of 60 again, where the fragility is the same as when you are young. It’s a disease that impacts your whole life, but it is not un-manageable.
What We Can Do
A month ago, we finally sat down with a endocrinologist and discussed what OI meant for us and our children. We both learned a few things that we didn’t know and reviewed things that we did.
After our meeting, we were left with some answers on what we can do to try and minimize fractures… incidentally when you have OI, wrapping your kid in a “bubble-wrap” lifestyle is one of the worst things you can do for them. As they have lower bone density already, the best thing you can do for them is to let them be a kid: as much appropriate exercise as possible (like swimming); plenty of vitamins for bone health; good diet; no contact sports or high impact activities.
We were also faced with the more personal question of: should and would we have more children? How were we going to let this impact our life?
Since last year, we have come to have our own answers to those questions. We have zero regrets on having the children we had and if we have no more I will be forever grateful that I’ve been blessed with three beautiful, smart, intelligent human beings to love and care for.
What Life is Like Now
I look at my three year old, and I see a little guy who is SO mentally strong and brave. He has an incredible cheerfulness and tenacity in facing broken limbs. Yesterday as he sat on the couch with his leg in a splint and surrounded by his favorite dinosaur toys, he looked up at my face and joyfully told me, “Mommy, I’m happy!”. It broke and blessed my heart at the same time. He has learned so much about trials at such a young age and he has already taught me so much about forbearance and acceptance of things outside my control. We have yet to see how OI will impact our youngest but remain optimistic. Because as parents that’s what we have to do.. we work through the hard stuff and have hope for the future.
And during the hard times of broken bones and set-backs I’m thankful for the little things: thankful for excellent doctors; thankful for our health share coverage (Samaritan Ministries) that has removed the worry of bills. Thankful that all five breaks so far have been “good” breaks (no shattered bones, pretty quick healing). Thankful that this last time, my son who has an amazingly high pain tolerance, seems to have very little pain and just chatted with the nurse while she put on his splint. I’m thankful for family, thankful for my faith, thankful for the faith that my little boy demonstrates and thankful for the grace that God has given us each day to work through this.
Our game plan going forward in raising our children is to focus on the things that we can do, not the things we can’t. Let them be kids as much as we can. Handle the broken bones as they come. Trust in God to provide wisdom and grace as things happen. Even though some of our children might not be able to do contact sports, and downhill skiing is a REALLY bad idea, doesn’t mean that there aren’t dozens of things they can do and enjoy about life!
If someone reading this has a child with OI and has any questions or just needs some moral support, please feel free to contact me and I’d be more than happy to provide what I can.