MULTIPLE HEREDITARY EXOSTOSES
Not all Rare Diseases are visible and noticeable when meeting someone. Multiple Hereditary Exostoses (Bumpy Bones) is what my identical 6 year old twin sons have. Some bumps you can see easily and some are hidden. It is a genetic hereditary disease but in their case they were a spontaneous mutation so are the only ones in our family to have it. They now have 50% chance of passing it on to their children.
Being a RARE DISEASE means there is not a lot of research or funding being done on this condition, meaning there are so many unanswered questions for everyone affected by it. I am so grateful for social media as it has enabled us to find some information and support that we would not have had otherwise.
While my sons are growing so will the Bumpy Bones, sometimes the bumps still grow during adulthood. The bumps can catch and rub on ligaments, tendons, muscles and other bones, causing extreme pain. The bumps can cause length discrepancy and angle deformity in legs, arms, fingers and toes. The bumps can restrict movement and motion and cause pain in joints. And always in the back of your mind, these bumps can turn cancerous.
Everyone affected by Multiple Hereditary Exostoses is affected differently, many children will need multiple corrective surgeries throughout their childhood to remove bumps. There has been some studies, research and parent conversations questioning and linking this genetic condition to other conditions i.e. Autism, ADHD, Speech delays, Learning Difficulties, Diabetes, Arthritis, Heart Disease, and Thin Teeth Enamel.
I wonder if we will ever really know??