Izzy, as she likes to be called, has osteogenesis imperfecta (OI), a genetic disorder that causes a person's bones to break easily, from little or no apparent trauma. That’s why OI is often referred to as "brittle bone disease". In people with OI, collagen is produced in insufficient quantities, which can lead to bone fractures, a slight spinal curvature, loose joints, and poor muscle tone. At the age of seven Izzy broke her thumb; later on she fractured her ankle. Next she broke her fingers when a desktop fell on her hand at school. Her parents, Tamara and Dave, grew concerned with the frequency of those accidents and asked their doctor to refer Isabella to CHEO.
There, she met Dr. Leanne Ward, an endocrinologist, who did a bone density test. Dr. Ward is one of only two physicians doing bone research on children in Canada. Izzy’s test results came back with a diagnosis of osteogenesis. Although there is no known cure for OI, regular weight-bearing exercise, a diet rich in calcium and gentle physiotherapy will help off-set the early development of osteoporosis and hopefully prevent future fractures. “I lead a normal life and do the stuff other kids do,” says Izzy. “I just have to be a little more careful, that’s all.” For now, that means no more gymnastics or horseback-riding.
Two years ago, Izzy went horseback-riding and had a fall. She had three compression fractures in her back and fractured her tibia and fibula on her left leg, the two leg bones located below the kneecap. The compression fractures in her back continue to heal slowly. Izzy’s fibula stopped growing as a result of the trauma and she came back to CHEO in December for surgery. Dr. Ken Kontio, her orthopedic surgeon, put on an external fixator with six large pins attached to the fibula. Those pins had to be twisted a few millimeters at a time, on a daily basis, for about one month. This in total lengthened Izzy’s fibula by 2.5 centimeters (one inch). The fixator stayed on Izzy’s leg for almost five months. A second surgery in April was done to remove the fixator and Dr. Kontio gave Izzy an awesome purple cast in the operating room to allow the new bone to continue to grow safely for a few more weeks.
Izzy spent her time in hospital doing crafts, making friends with other patients, being a clown in training with Mollypenny, CHEO’s therapeutic clown, and keeping up with her schoolwork. She loved spending time with the therapy dogs that visit the hospital as she missed her three German Shepherds at home very much. She also hung out with her mom and Pete and with her dad and her three brothers, and kept in touch with friends using Skype from her hospital bed.
Izzy was recently very involved in helping the CHEO Foundation by telling her story on radiothons and being a co-host on the CHEO telethon. “Being a part of these events positively affected Izzy,” says Tamara. “It allowed her to not only share her story but to talk about the importance and impact CHEO has had on our entire family. Izzy mentioned that being a part of the radiothon and telethon made her feel that she really mattered as a patient.” And matter she does. She truly touches all those who meet her with her infectious smile and happy disposition.
For now Izzy is back home, enjoying summer. Sometime this summer, Izzy will need a third operation to sever the growth plates in her leg and remove any loose bone fragments. She doesn’t mind it too much – she just hopes it can be done soon so that she can be fully healed by the time September comes – and she heads to high school. Keeping up with her classmates has always been a priority for Izzy. Thanks to the teacher at CHEO, she was able to graduate from grade eight with an 80 percent average! Way to go Izzy!
Izzy sees Dr. Ward, her endocrinologist, once a year now and has a bone density test done annually. She is also followed at CHEO by Dr. Mark Norris for nutrition and Dr. Janusz Feber in nephrology for her blood pressure. She has a wonderful team taking care of her and always looks forward to visiting the hospital and chatting with the doctors and nurses at the clinic… and they look forward to seeing her too.