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