Having a child with OI

When my S/O and I got together, I knew very little about what Osteogenesis Imperfecta was. I had never even heard of the condition until we met. I knew there was a 50/50 chance of any of his children inheriting the condition. His son had been taken along with him on a trip to Montreal Shriners Hospital, to have him checked for the condition. Luckily the gene was not passed on to him.

When i became pregnant and during my pregnancy the thought never really crossed my mind that our child could be born with OI. I had an amazing pregnancy, no complications. My daughter was born on February 24 2011, at 9pm, weighing 9lbs !!! I was a little nervous before being discharged as the pediatrician checked her out and noticed a heart murmur. (it eventually went away!!) .. and he was going to xrays, just because some OI babies come out with broken bones.. but we ended up going home !!!! Originally I was going to wait til my S/O's next appointment at Shriners Hospital for her to get genetic testing, but decided to have the pediatrician get us in to genetics in Hamilton. The blood sample was sent off to Washington, so we had to wait a few weeks for the results. During the wait, i started realising how blue her sclera was. We got the call, and they confirmed what I was fearing, that our daughter has Osteogenesis Imperfecta Type 1. We cried.
November 2011 we went to Shriners Hospital, mine and my daughters first time. We met with the doctor at the clinic. They took a urine sample, Dexa Scan (to measure bone density), and x ray. Her bone density was -0.08 under what a normal child her age would be. Still considored in the normal range. X rays came back great.

Her first birthday came and went... still no fractures. I never knew when it would happen or how it would happen. She learned to walk, and has had many falls and she always shook it off and kept on playing. We had a scare in the summer, but turned out to be nothing. November 2012 we went back to Shriners for her second clinic. No xrays, only urine and Dexa Scan. This time, her scan came back -2 under what a child her age should be at. They said, she has gained some bone density and didnt lose any, she just isnt at the range a child of her age would be at. So i was really concerned about her scan, and thought to myself what her bone density would be like in another 6 months to a year... would she be fracturing soon????
I found myself a community for support on a facebook group. A group of parents that have children with OI. Any questions i had i could ask there. I got to talk to other mothers and even become online friends with them. I have learned a lot about OI since having my daughter. I am so thankful for my online community !!! :)

In February 2013 is when she had her first fracture. She was playing with her mega blocks, stood up and slipped on one. X ray showed left tibia fx. Unexpectedly again in March, 6 weeks after her first fx, she fell and fractured her other tibia. Right now both of her legs are casted. Emotionally, this has been so hard. I dont want my child to be in pain, and because her bones are brittle a fracture is hard to prevent. I can honestly say, i am scared to have any more children. I never could of imagined what it was going to be like, or how scary, and sad i would be for her. I dont want her to fracture, but if she does she will get treatment. Now that she is in two leg casts and cant walk, or do anything... i have been thinking about getting her a wheel chair and walker. I dont know whats going to happen in the future, and its really scary. At any given moment she could fracture again. I cried for her... because as scary as it is for her, it is for me too.

Introduction

I am a 23 year old mama living with my significant other(24), his son (4), and our daughter (2). My S/O and daughter have a genetic condition called Osteogenesis Imperfecta (OI), which means that their bones are brittle and break easily. My S/O has broken over 50 bones, and so far my little princess has now fractured twice !!!! His son did not inherit the condition. Its basically 50/50 that a person with OI can pass on the gene to their offspring/ children. We went for genetic testing and found out when she was 4-5 months that she did indeed inherit the gene. Her father unfortunately was a spontaneous mutation as no known OI existed prior in the family. His mother was a single mom, and because he had so many fractures when he was just little she had been investigated for abuse. Luckily she seen a doctor that just had to look into his eyes and he knew right away what condition he had. People with OI generally have a blue/ grey sclera, that is the whites of your eyes folks ;)

OI is a little complex as there are many different types and severities. Some types, the children are so breakable the parents have to carry their newborn/ infant around on a pillow. A lot of people with OI are short in stature, require a wheel chair and some need rods placed in their arms/ legs. Sometimes babies are born with broken bones, bowed legs and shortened arms/ legs. Scoliosis is very common, loose joints, and sometimes hearing loss. As far as i know, most if not all people with OI experience some degrees of pain on a daily basis.
My daughter has type 1 which is supposed to be the less severe. She is quite tall/ big for her age. Actually she looks like your average 2 year old and nobody would guess that her body has problems with creating collagen which causes her to have weak bones.

We go yearly to see her specialists in Montreal Canada, at the Shriners Hospital for Children. They have an amazing team of doctors whom are experts, and ive heard they are best in the world for OI care. We have gone twice for our daughter so far. They do a bone density scan to see how weak/ strong the bones are and every other year they like to xray the spine to make sure no fractures and look for signs of scoliosis. There is no cure for OI, but they have made some progress with drugs like pamidronate and zoledronate which helps increase bone mass. They are infusions, pam is a 3 day infusion and zole is 1 day. Unfortunatly my daughter does not qualify for treatment yet, as they require spinal fx or long bone fractures i believe 4 in one year? My daughter has only broken her left and right tibia, but we go back to see the doctors again at the end of the year, depending on what happens now til than she may qualify than !!

Well i guess thats my brief introduction to my family/ and osteogenesis imperfecta........ Will be keeping up with this blog and updating on our progress when i get the chance. Thanks for reading :)

November 2011