Joshua Ryan - Living with 2 Rare Syndromes
Cancer runs in my husbands family. He has lost 2 young daughters to cancer and he himself has a rare cancer now too. So when our son Joshua was 1 year old and started walking, we were concerned because of a curvature in his right leg. After seeing several doctors and specialists, and going through countless scans and tests over the next year, it was determined that he has Maffucci Syndrome which affects his right leg (5 enchondromas) and he also has 3 small lesions in his liver. Genetic testing also revealed that Joshua has Li-Fraumeni Syndrome, caused by a mutation in the p53 gene which is a tumor suppressor gene. Currently Joshua is doing well, no active tumors or cancers. His curved leg is being corrected by a small metal 8 plate that was surgically attached to his right tibia - his leg has straightened dramatically in the last year. Joshua is now 3 years old and we travel 5 hours away every 3 months for checkups and a leg xray with his surgeon, and screenings under the Toronto Protocol with a geneticist due to the Li-Fraumeni Syndrome and his liver lesions. It is estimated that 50% of children with LFS will develop some form of cancer by the age of 30. With our family history, we want to make sure if Joshua ever gets cancer, his doctors will catch it early, which usually improves the odds of survival for LFS children.
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