Treacher Collins is a genetic disease that is passed through either a mutation happening when the DNA is being split or one of the parents has the gene in their DNA. There is no cure for Treacher Collins right now. Treacher Collins affects the cranial aspect of the upper body. In some extreme cases, breathing and eating ways are affected so much that the child has to have a trach put in to help it breath normally. A feeding tube is put in so the child can get the nutrients and substance that it needs to live.
Diagnosis
When a child develops Treacher Collins the signs do not appear right away or visible until an ultrasound or birth comes. “Your doctor may take X-rays or CT (computed tomography) scans to confirm the diagnosis” (Treacher Collins Syndrome). Doctors may not know that the baby is showing signs until the last trimester which is devastating to parents. If you have the gene that might have a mutation and you don't know but want to know if you could. There is always genetic testing that parents can do to see what their chances are of having the mutation. As said from the national organization of rare diseases. “Reportedly, the …show more content…
There is no cure for it because it is a gene related syndrome. “It may be inherited in an autosomal dominant fashion from a parent with Treacher Collins syndrome, or be due to a fresh genetic mutation”(Treacher Collins Syndrome). Signs of this syndrome happen when the baby is either born or late in the developing process. Around 15 weeks is when the signs or visible to doctors. There are no signs that change they are more like stages. The stages contain of minor or major effects on the body. An example would be not be able to eat or breath with our a ventilator or a feeding tube this would be major. The signs can get better with surgeries. LOTS and lots of surgeries. How this affects the person is by emotion. They feel insecure and they don't know how to handle this with everyone's
Diagnosis
When a child develops Treacher Collins the signs do not appear right away or visible until an ultrasound or birth comes. “Your doctor may take X-rays or CT (computed tomography) scans to confirm the diagnosis” (Treacher Collins Syndrome). Doctors may not know that the baby is showing signs until the last trimester which is devastating to parents. If you have the gene that might have a mutation and you don't know but want to know if you could. There is always genetic testing that parents can do to see what their chances are of having the mutation. As said from the national organization of rare diseases. “Reportedly, the …show more content…
There is no cure for it because it is a gene related syndrome. “It may be inherited in an autosomal dominant fashion from a parent with Treacher Collins syndrome, or be due to a fresh genetic mutation”(Treacher Collins Syndrome). Signs of this syndrome happen when the baby is either born or late in the developing process. Around 15 weeks is when the signs or visible to doctors. There are no signs that change they are more like stages. The stages contain of minor or major effects on the body. An example would be not be able to eat or breath with our a ventilator or a feeding tube this would be major. The signs can get better with surgeries. LOTS and lots of surgeries. How this affects the person is by emotion. They feel insecure and they don't know how to handle this with everyone's