In 1958, Jeannie Pepper was born and there was only one thing that wasn’t quite right, her big toes were crooked and short. Doctors didn’t think anything of it. They fit her with toe with braces and sent her back home. A couples months later, swelling appeared on the back of her head. Nobody knew what was wrong. When her mother noticed that she couldn’t open her mouth as wide as normal, she took her to many doctors to figure out what was wrong. They diagnosed her with Fibrodysplasia Ossificans Progressiva, a rare muscular disorder that is caused by a mutation in the ACVR1 gene at the age of four years old. At first, her parents didn’t tell her about her disorder. Jeannie went through many surgeries, and after each one, her condition was worse.
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Bone forms outside the skeleton, regulating movement. The process of Fibrodysplasia Ossificans Progressiva usually becomes noticeable in the early stages of childhood. The process usually starts with the upper neck and works its way down the body, and into the limbs.
Fibrodysplasia Ossificans Progressiva is caused by a mutation in the ACVR1 gene. This gene provides directions for constructing a part of a protein group called bone morphogenetic protein. This protein is found in many tissues, as well as muscles and cartilage. ACVR1 helps control the development and growth of the bones and muscles. Researchers believe that a mutation may change the shape of the receptor, disturbing the mechanisms that control the activity, causing overgrowth of bone and cartilage.
The formation causes loss of mobility in the joints. You are unable to walk, stand, or move any ligaments. You are unable to open the mouth fully, which makes it difficult for you to talk and eat. The inability to eat regularly, usually causes malnutrition problems later on. They also have problems breathing because of the extra bone near the ribs. Encountering any sort of trauma, such as falling, or any sort of procedure may cause swelling and inflammation. These types of traumas will cause more bone to form making the case even
Bone forms outside the skeleton, regulating movement. The process of Fibrodysplasia Ossificans Progressiva usually becomes noticeable in the early stages of childhood. The process usually starts with the upper neck and works its way down the body, and into the limbs.
Fibrodysplasia Ossificans Progressiva is caused by a mutation in the ACVR1 gene. This gene provides directions for constructing a part of a protein group called bone morphogenetic protein. This protein is found in many tissues, as well as muscles and cartilage. ACVR1 helps control the development and growth of the bones and muscles. Researchers believe that a mutation may change the shape of the receptor, disturbing the mechanisms that control the activity, causing overgrowth of bone and cartilage.
The formation causes loss of mobility in the joints. You are unable to walk, stand, or move any ligaments. You are unable to open the mouth fully, which makes it difficult for you to talk and eat. The inability to eat regularly, usually causes malnutrition problems later on. They also have problems breathing because of the extra bone near the ribs. Encountering any sort of trauma, such as falling, or any sort of procedure may cause swelling and inflammation. These types of traumas will cause more bone to form making the case even