What suggests, causes imperfectly formed bones and can result

What is OI? Discovered by Tim Lobstein, this genetic disorder affects about 20,000 people in the U.S. per year. This genetic disorder, as the name suggests, causes imperfectly formed bones and can result in few to many bone fractures. Most cases are mild, only causing few bone fractures. However, severe cases can additionally cause hearing loss, heart failure, spinal cord problem, and/or permanent deformities. OI can sometimes be fatal if it affects babies before or a bit after birth. Other names include: Lobstein disease, brittle-bone disease, blue-sclera syndrome, and fragile-bone disease.What causes Oi?Brittle bone disease is caused by a mutation in one of two genes of chromosome 7 (COL1A1 and/or COL1A2) that produces type 1 collagen, which is the protein that forms bones. This gene is usually inherited but can also can occur through a mutation in your own DNA. These faulty genes are usually passed on as a dominant gene, only taking one for the trait to show, but can also be passed on as recessive in rare cases.What are the types of OI?There are 8 total types of OI, but only 4 are most common. The other four are somewhat subtypes of Type 4.Type 1:This type of OI is the most mild of the lot. Someone with type 1 OI would be able to live a normal life with few problems concerning their bones. That person’s body would be producing quality collagen, but not enough to make typical person’s bones.Type 2:This type of OI is the most severe type and can be fatal. If you had type 2 OI, your body would produce enough collagen or doesn’t produce quality collagen. This could cause bone deformities and children with type 2 OI may have factors leading to respiratory problems like narrowed chest. Babies with this disorder can die in the womb or shortly after birth.Type 3:This type of OI is also a serious form of the disease and causes bones to fracture easily. With type 3 OI, your body does produce enough collagen, but it is of poor quality. A child’s bones may break before birth and bone deformities are common which may get worse as they age. Type 4:This type of OI can vary between symptoms but typically lies between types 1 and 3. Like type 3, enough collagen is produced but it is of poor quality. Children with type 4 OI may be born with bowed legs, though bowing lessens with age. Diagnosis of OI:Little to no trauma in babies and young children are the first sign of OI. A doctor can take an X-ray to see past broken bones and any signs of bone deformities. Genetic testing may also be done to see any defective genes.Prognosis of an individual with OI:The life expectancy of a person with OI can vary between types. People with types 1 and 4 can live a normal life with few problems or may need crutches to walk. A person with type 3 OI may need a wheelchair to get around and have a shorter lifespan than people of types 1 and 4. Type 2 is often fatal. Babies with type 2 OI may die in the womb or shortly after birth due to respiratory problems. Despite the problems these people will face, most can live successful lives. They can attend school, get a career, and be an active member of their society.Treatments/medications:Currently, there is no cure or drug therapy available for brittle bone disease but medication can help. Current Research:There is a foundation out there called the “Osteogenesis Imperfecta Foundation”, or OIF for short, which the people there are researching and working “to find treatments and a cure, education, awareness, and mutual support” as stated by their “about” page. Their website also gives more information on the disorder and resources are readily there for parents, adults, youth, and the media, along with personal support.Relation to IB Global Contexts:I believe that genetic disorders like this and many others can relate to IB Global Contexts, Identities and Relationships and Scientific and Technical Innovations. The first one explains itself as to “explore identity; beliefs and values; personal, physical, mental, social and spiritual health; human relationships including families, friends, communities and cultures; what it means to be human.” Already, it shows to talk about health and how it would impact the people around a person with OI and their family. Secondly, the other describes itself as to how to use our understanding of scientific knowledge to the benefit of human advancement and how to adapt to their needs. A pdf also shows “the biological revolution” as a prime example.Other Stories:There is lots of information on these pages but one example of a person who is actually going through living with OI is a now 18-year old girl named Natalie. At the time of the publish of the video which she shared her story in, she was 10, and described to already have had 19 broken bones by then. Still, with some help from Johns Hopkins Medicine and support from her parents and 3 brothers, she was still able to enjoy her favorite hobbies like piano and swimming.