Essay On Osteogenesis Imperfecta
Background
Osteogenesis Imperfecta (OI), also known as brittle bone disease, is a genetic mutation. I chose Osteogenesis Imperfecta because I wanted to inform the people about the seriousness of this disease. People with this disease have weak bones due to a mutation affecting the collagen in the body. This causes people to have fragile bones, which will fracture easily. People may also be very short because of their weak bones. Types of this condition can be mild, it can also be very severe. This is a condition that needs to be diagnosed by a doctor before someone is known to have it. It has no cure, however, treatments are available for those affected. In the United States, about 20,000 people have been diagnosed with Osteogenesis Imperfecta. In addition, this disease affects many people in the United States, and can be very severe for some people.
What is the cause of this condition?
Osteogenesis Imperfecta is a result of a genetic mutation. In most cases it is caused by a single dominant mutation in either …show more content…
COL1A1 or COL1A2 gene. COL1A1 and COL1A2 make protein that is given to the type I collagen, which provides protein to the bones to help them grow. For instance, a child can get the mutation without having any family history, which usually happens when a new mutation is formed in the egg or sperm. On the contrary, it can be pasted down to an offspring if one parent has the mutation. There is a 25 chance that the if one Osteogenesis Imperfecta parent has the gene they could pass it onto his/her child. Also, if both parents have Osteogenesis Imperfecta, there is a 75 percent chance of the child receiving the mutation. Testing can be done with prenatal care to examine collagen proteins and see if it could lead to Osteogenesis Imperfecta. To conclude, Osteogenesis Imperfecta can be passed down by several things.
What are internal and external symptoms?
Osteogenesis Imperfecta has thirteen different types, each presenting different symptoms.
The first major sign that someone could have Osteogenesis Imperfecta is fragile bones, leading to easy fractures of the bones. The most common and mildest form of Osteogenesis Imperfecta is type I. Fractures are most likely to occur in type I patients before they hit puberty. Although it is rare, people may have brittle teeth or hearing loss. There is a likely possibility of light bruising to also occur in type I cases. Type III is the worst and most severe case. It results in internal symptoms of many fractures, severe bone deformities, blue or grey sclera, sunken chest, hearing loss, brittle teeth, and a curving spine. External symptoms are a triangular face, and short height. These symptoms often lead to the child being in a wheelchair for the rest of their life. Furthermore, symptoms of Osteogenesis Imperfecta are dependent on the type the patient is diagnosed
with.
What treatments are available?
There is no cure for this disease, however, there are treatments available to manage the symptoms. For children, there are medications, therapy, or surgery. Doctors will recommend medications like, bisphosphonates and zoledronate, which help prevent the loss of bone mass, along with vitamin D and calcium to help make strong bones. The option of therapy is to help the patient improve mobility and function. Performing surgery would include procedures of osteotomies, putting in rods, or doing a procedure stabilize the spine. Most of the treatments are similar for adults. Although medications and therapy maintain the same, surgery insists of joint replacement, fracture repair, and rod repair. After all of these possible treatment options, the patients have monthly check ups to monitor their health.
How can you help a person who has OI?
The life of a person with Osteogenesis Imperfecta can be tough at times. The best thing for a person with this condition is a good support system. You can help and support them by getting informed about the disease. Becoming informed will help you understand what the person is going through and what to do. Also, make sure they are going to routine screening to check on their health. The number one thing to do for a person with Osteogenesis Imperfecta is to be there for them and understand the emotions they have. Thus, all you need to do is be there for someone with this condition, know what they are going through, and how to help.
How can our society adjust to a person with OI?
In society, it is best to treat a person with Osteogenesis Imperfecta with the care and love they need. They will have to be watched and taken care of, lowering the possibility of injuries. Since their bones are very fragile, it is likely for them to be in a wheelchair in public. Help guide them through the ways of society. Dealing with this condition can give them high stress and anxiety levels. It is most beneficial to their self-esteem to emphasize the positive things about them. With regard to this information, society needs to provide trust for them and give them confidence.
Osteogenesis Imperfecta (OI), also known as brittle bone disease, is a genetic mutation. I chose Osteogenesis Imperfecta because I wanted to inform the people about the seriousness of this disease. People with this disease have weak bones due to a mutation affecting the collagen in the body. This causes people to have fragile bones, which will fracture easily. People may also be very short because of their weak bones. Types of this condition can be mild, it can also be very severe. This is a condition that needs to be diagnosed by a doctor before someone is known to have it. It has no cure, however, treatments are available for those affected. In the United States, about 20,000 people have been diagnosed with Osteogenesis Imperfecta. In addition, this disease affects many people in the United States, and can be very severe for some people.
What is the cause of this condition?
Osteogenesis Imperfecta is a result of a genetic mutation. In most cases it is caused by a single dominant mutation in either …show more content…
COL1A1 or COL1A2 gene. COL1A1 and COL1A2 make protein that is given to the type I collagen, which provides protein to the bones to help them grow. For instance, a child can get the mutation without having any family history, which usually happens when a new mutation is formed in the egg or sperm. On the contrary, it can be pasted down to an offspring if one parent has the mutation. There is a 25 chance that the if one Osteogenesis Imperfecta parent has the gene they could pass it onto his/her child. Also, if both parents have Osteogenesis Imperfecta, there is a 75 percent chance of the child receiving the mutation. Testing can be done with prenatal care to examine collagen proteins and see if it could lead to Osteogenesis Imperfecta. To conclude, Osteogenesis Imperfecta can be passed down by several things.
What are internal and external symptoms?
Osteogenesis Imperfecta has thirteen different types, each presenting different symptoms.
The first major sign that someone could have Osteogenesis Imperfecta is fragile bones, leading to easy fractures of the bones. The most common and mildest form of Osteogenesis Imperfecta is type I. Fractures are most likely to occur in type I patients before they hit puberty. Although it is rare, people may have brittle teeth or hearing loss. There is a likely possibility of light bruising to also occur in type I cases. Type III is the worst and most severe case. It results in internal symptoms of many fractures, severe bone deformities, blue or grey sclera, sunken chest, hearing loss, brittle teeth, and a curving spine. External symptoms are a triangular face, and short height. These symptoms often lead to the child being in a wheelchair for the rest of their life. Furthermore, symptoms of Osteogenesis Imperfecta are dependent on the type the patient is diagnosed
with.
What treatments are available?
There is no cure for this disease, however, there are treatments available to manage the symptoms. For children, there are medications, therapy, or surgery. Doctors will recommend medications like, bisphosphonates and zoledronate, which help prevent the loss of bone mass, along with vitamin D and calcium to help make strong bones. The option of therapy is to help the patient improve mobility and function. Performing surgery would include procedures of osteotomies, putting in rods, or doing a procedure stabilize the spine. Most of the treatments are similar for adults. Although medications and therapy maintain the same, surgery insists of joint replacement, fracture repair, and rod repair. After all of these possible treatment options, the patients have monthly check ups to monitor their health.
How can you help a person who has OI?
The life of a person with Osteogenesis Imperfecta can be tough at times. The best thing for a person with this condition is a good support system. You can help and support them by getting informed about the disease. Becoming informed will help you understand what the person is going through and what to do. Also, make sure they are going to routine screening to check on their health. The number one thing to do for a person with Osteogenesis Imperfecta is to be there for them and understand the emotions they have. Thus, all you need to do is be there for someone with this condition, know what they are going through, and how to help.
How can our society adjust to a person with OI?
In society, it is best to treat a person with Osteogenesis Imperfecta with the care and love they need. They will have to be watched and taken care of, lowering the possibility of injuries. Since their bones are very fragile, it is likely for them to be in a wheelchair in public. Help guide them through the ways of society. Dealing with this condition can give them high stress and anxiety levels. It is most beneficial to their self-esteem to emphasize the positive things about them. With regard to this information, society needs to provide trust for them and give them confidence.