My name is Julie and my son Jack is a happy, 11 year-old boy. He loves to play and spend time with his friends and family, and he loves legos and his pets! When Jack was 18 months old, he began losing his vision. After many surgeries, the vision in his left eye was saved and he was given the diagnosis of Familial Exudative Vitreo Retinopathy. We thought we had it nailed and had a handle on his rare disease.
At three years old, Jack took a tumble and broke his collar bone. A year later, he fractured his wrist. When Jack was six years of age, he fell on his knee in a swimming pool and broke his right femur. I still held out hope that this was just a “fragile” child. Unfortunately, his situation worsened.
After Jack broke his ankle in 2nd grade, his doctor took more notice to the oddities of his x-rays. Jack was sent to Greenwood Genetics for testing and was formally diagnosed with Osteoporosis Pseudo-glioma Syndrome, or OPPG. This syndrome is very rare and involves the retina detachment along with severe osteoporosis and brittle bones.
Since receiving this diagnosis, Jack continues to break bones. His most recent occurrence was in September 2010. He fell on the playground and broke the left femur quite badly. After surgeries to repair the femur and many months of therapy, he is now able to walk with a walker, but is mostly confined in a wheelchair. He is treated in Charlotte with infusions to strengthen his bones.
Jack’s body is tired and broken, but his spirit is strong. This disease is so very rare. At last count, there were only 103 diagnosed cases in the world. I teach Jack at home and he is so smart. He is an absolute joy, my life. Thank you for letting me share his story.