Osteogenesis Imperfecta free essay sample

Osteogenesis Imperfecta was a severe, congenital genetic disorder which can cause the human bones to be extremely delicate. This disease is caused by a mutation(whether it be deletion or duplication) in chromosome 17q21, 31-q22, 7q22. 1, which are the chromosomes that help the body produce the proteins to make collagen, which is what makes bones and muscles strong. Because of the body not being able to create collagen, the bones become very brittle and can increase the risk of fracture by a substantial amount. The lifespan of those with Osteogenesis Imperfecta differs due to how severe the disease is. The physical features of those with the OI are short stature, triangular shaped face, breathing problems, some hearing loss, brittle teeth, and bone deformities. Brittle Bone disease is relatively rare, with about 20,000-50,000 US citizens currently living with the disease. Though children with OI generally become stronger and fractures occur less often as they age, in women, it may become active again during and after menopause. There are four types of OI; Type 1 is the most common and least mild, Type 2 is the most severe form of the disease, Type 3 has other physical complications(such as respiratory issues, deafness, etc. ) and the infant is usually born with fractures, and Type 4 is a less severe form of Type 3 but more severe than type 1. Often, cases of OI go undiagnosed, but simple testing can help to diagnose the disorder before worse things can happen. Type of Research There has been much research on OI and its patients and for cures, and not many have been actually discovered. There have been different ways to help with the pain that comes with Osteogenesis Imperfecta. Medical Bisphosphonates could be given to the patient, which help strengthen the bones, but doesn’t fully cure the patient. Patients may only receive the medicine under extensive medical care. Bracing and casting is another alternative to help with the fractures(as well as pain medication for pain). This is usually for fractures but should be worn longer than typical patients because the healing process is longer for OI patients. Another way to strengthen the bones is light exercise. After you get a fracture, swimming or walking can help strengthen the bones(unless the patient is unable to walk because of the severity of the OI). For the more severe cases of Osteogenesis Imperfecta, medical operations may be the only option. Placing rods in curved bones, such as severely deformed limbs may be an option. This also is not an actual cure and more surgeries could result from doing so. This may also be for bones that don’t heal properly or repeated fractures in the same bone. Spinal fusion may also be an option for severe Scoliosis, because braces made for Scoliosis may cause the ribs to become deformed and in turn, causing the Scoliosis to worsen over time. Spinal fusion is the surgery of straightening out the spine and fusing the bones together to stop the Scoliosis from worsening over a long period of time. Though both procedures can help with OI, they DO NOT cure the disease in full. Scientific Investigation Osteogenesis Imperfecta can be tracked and even diagnosed by going through the families medical history. Other tests can be performed, as well, such as simple xrays to show fractures or thin bones which can indicate OI. A DXR scan can also be done to determine bone density, which plays a major role in Osteogenesis Imperfecta. DNA Blood tests are the most accurate to determine whether a child has OI or not. This shows all the genes and can show the actual mutation in the gene. A normal female Karyotype found on Google Images. There have been many legal issues with the rare disease. Many children have been taken away from their parents because of xrays showing the fractures. Without proper testing for the disease, families have been torn apart because of CPS getting involved because of the xrays showing multiple fractures or fractures that healed improperly and blaming it on the parents. The bones in the child with Brittle Bone Disorder are much weaker than those of children without the disease. With this being said, even the strongest bones can be broken fairly easily. Rib fractures, skull fractures, humorous and femur fractures can be mistaken as child neglect. The doctors often overthink the fact that it could actually be OI and directly assume that it could be child abuse. Relevance Osteogenesis Imperfecta is a rare, genetic disorder that not many people know about. It can be life threatening and needs to be treated as soon as they are diagnosed. Undiagnosed patients(children) more often than not, get suspected as child neglect. No family should be torn apart because of a disease that can be tested for with a simple blood test. People need to know that this is a serious disease that has no known cure to this day. If more tests get done on children before the law gets involved, that’s another family that can keep their child from being accused of child abuse. Not only that, but this disease is congenital. You are born with this disease whether you like it or not. It is very serious and needs more reorganization. If more people would learn about Osteogenesis Imperfecta, there could be more research done to find a cure. Though it is rare, every day, more research could always be done. The sooner a cure can be found for this awful disease, the sooner children won’t have to live with OI.