biologu

Grant Laue Mr. Andrews Public Speaking MWF-12:00 18 november 2019 Outline Intro : Have you ever had a bone break on you? If so, have you had more than one? Broken bones have been a recurring theme for my cousin who suffers from Osteogenesis imperfecta. What is osteogenesis imperfecta? Osteogenesis is an inherited disorder characterized by extreme fragility of the bones and is often referred to as O.I. This disorder is more commonly known as brittle, bone disease. According to genome.gov OI occurs in approximately 1 in 20,000 individuals, including people diagnosed after birth. I will be answering some of the simple questions asked about O.I. such as, how is it diagnosed, how does it affect someone’s daily life, and is there a cure or treatment options. Body : So first, how is O.I. diagnosed? If OI is moderate or severe, health care providers can usually diagnose it during a prenatal ultrasound at 18-24 weeks of pregnancy. The diagnosis is made based on family history, and clinical presentation. X-rays can also be used to diagnose OI, by looking at the bones during different stages of healing. Laboratory testing for OI may include either biochemical testing or DNA- based sequencing of COL1A1 and COL1A2. Genetic testing can be done to trace the source of any defective genes. Now that you know how it is diagnosed, I’ll explain how it can affect a person’s daily life. Those who are diagnosed with OI will frequently fracture bones, often from mild trauma or with no apparent cause. Most of these fractures will occur from infancy through adolescence. According to the oif.org hearing loss may begin in the early 20s and by the middle age is present in more than 50% of people with OI. People who suffer from this disease are unable to take part in normal physical activities, without a high risk of injury. In severe cases, patients are unable to walk and are forced to use a wheelchair to get around. As a result, those affected need someone to prepare their meals, assistance when using the restroom, and help with something as simple as getting dressed. Last, many want to know if there is a cure or what the treatment options are. Unfortunately, to date, there is no treatment, medicine, or surgery that will cure OI. However, there are still options offered to improve their health, such as physical therapy. Often times, when a leg is broken during childhood doctors, will exercise a procedure, in which a metal rod is put in place to prevent the bone from breaking again. Conclusion: In conclusion, now that you know how osteogenesis imperfecta is diagnosed, the way it affects daily lives, and that there is no treatment or cure I will discuss how this has affected me personally. As I said earlier, my cousin was diagnosed with OI shortly after being born. I have grown up watching him not be able to live a life that a normal kid should. He is a major sports fanatic and has never been able to play any kind of sports. He has had several breaks and many surgeries to help him try to live as normal of a life as he could. Despite this disease, he has graduated from high school as well as NEO. He is currently attending MSSU. OI is a severe disease yet, my cousin has beaten the odds and made a great life for himself.