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BETH - Osteogenesis Imperfecta (OI)

I'm "Beth". Many people have said I am like Cher, Bette and Madonna, I only need one name because so many people know me! I am one of the many faces of OI, the condition I was born with in 1949. Osteogenesis Imperfecta (OI) (also known as “brittle bone disease”) is a genetic disorder characterized by fragile bones that break easily. The term literally means “bone that is imperfectly made from the beginning of life". A person is born with this disorder and is affected throughout his or her life time. OI is caused by an error called an alteration on a gene that affects the body’s production of the collagen found in bones and other tissues. It is not caused by too little calcium or poor nutrition. It is estimated that between 25,000-50,000 Americans have OI. More than 13 different types of OI currently have been identified, each with variable symptoms and manifestations. OI may not be easily diagnosed in people with the milder forms until much later in life, if ever, thus causing the vast difference in the estimated number of people with OI.

The types range in severity from a lethal form to a milder form with few visible symptoms. The specific medical problems a person will encounter will depend on the degree of severity and lifestyle. A person with mild OI may experience a few fractures while those with a more severe form may have hundreds in a lifetime. In addition to fractures, people with OI often have muscle weakness, hearing loss, fatigue, joint laxity, curved bones, scoliosis, blue sclera, dentinogenesis imperfecta (brittle teeth), short stature, and issues with heart valves. Restrictive pulmonary disease occurs in more severely affected people especially those with scoliosis.

 Now you know a little about OI, so here is something about this person who is living the life. Yikes! I am an old one now but, by all accounts, I am doing wonderfully well physically, mentally, emotionally and spiritually. This is incredible, considering the information provided to my dear mother when I was two-and-a-half-years old and first diagnosed. I am thankful she was wise enough (not buying into the latest/greatest cures), brave enough (to fight for me to go to public school with the kids who did not have any type of disability), strong enough (never giving up on me during more than 100 broken bones that had to be put in casts and operations to rod my upper and lower legs and my back), and believed in me enough (allowing me to move to the big city and look for a job three days after high school graduation) to raise me as she did. I have had absolutely the most wonderful life - even though it has not been without ups and downs. I have had some great jobs, a wonderful marriage, traveled all over the USA, Mexico, Canada and Bahamas, served on the Little People of America, Inc. and Osteogenesis Imperfecta Foundation national board of directors, was second-runner-up for Miss Wheelchair NC., chaired the State of Florida Accessibility Advisory Committee for the Florida Board of Building Codes and Standards for four years, conducted many workshops on dating, intimacy and sexuality, and lobbied the US Congress on several occasions - all without breaking a sweat. I have been up in a glider plane, ridden on a motorcycle, gone deep sea fishing, catamaran sailing, done the Alpine slide down the side of a mountain, driven across country and back all by my big self, and hope to have many more adventures before I leave this earth.

As you read over information on the various types of dwarfism because of your child or your own condition, please remember that everyday new scientific understandings are being found. What we all knew 20 or more years ago is not what we know now, and will not be what we know in the future. Do not be afraid to allow yourself or your child to live every day the very best. I have lived and loved and been loved well in my life. What more can anyone else want out of life?


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