Growing Pains of Osteogenesis imperfecta

It's time we talk about Osteogenesis imperfecta. This is a rare genetic disorder that affects approximately 1 in every 15,000 to 30,000 individuals worldwide. I interviewed my mom and she was kind of nervous but y'all she really did such a good job of telling her story about caring for my brother through the battle with osteogenesis imperfecta, I am seriously so proud of her and know her story will impact our community. It's not fair to compare struggles and I'm not trying to. I want to ask this: can you imagine handling your life when your child has had 50 broken legs before the age of 10? I am so grateful for this opportunity and most grateful for my loving mother, she is a total rock star! My brother happens to be affected by this condition, and this is one reason I'm so interested in health. Growing up watching the progression of his life under the same roof. I'll remain focused on the topic as I interview my mother to discuss her journey of discovery and life with my brother who is now in his late 40's. Let's continue, this condition is characterized by brittle bones that are prone to fractures, even with minimal trauma. Other symptoms include short stature, loose joints, hearing loss, and blue sclerae (bluish tint in the whites of the eyes). Osteogenesis imperfecta poses significant challenges for those affected, impacting their mobility, causing pain, and increasing the risk of disability. Early diagnosis, proper management, and access to support services are crucial in helping individuals with this condition lead fulfilling lives. Deeper research includes the following OI is caused by defects in or related to a protein called type 1 collagen. Collagen is an essential building block of the body. The body uses type 1 collagen to make bones strong and to build tendons, ligaments, teeth, and the whites of the eyes. Certain gene changes, or mutations, cause the collagen defects. Mutations in several genes can lead to OI. About 80%–90% of OI cases are caused by autosomal dominant mutations in the type 1 collagen genes, COL1A1 and COL1A2. Mutations in one or the other of these genes cause the body to make either abnormally formed collagen or too little collagen. Mutations in these genes cause OI Types I through IV. The remaining cases of OI (types VI–XI) are caused by autosomal recessive mutations in any of six genes (SERPINF1, CRTAP, LEPRE1, PPIB, SERPINH1, and FKBP10) that code for proteins that help make collagen. These mutations also cause the body to make too little collagen or abnormally formed collagen. These gene changes are inherited, or passed down from parents to their children; people who have OI are born with it. However, in some cases, the gene mutation is not inherited and occurs after conception. This happens to be the case for my brother. If you save this post I will be adding more about cases of OI and more about my brothers journey with OI. I am seeking contributions from other on this rare topic, if you have more information please add it to this post.