Because there are so many diseases in the world today it is pretty much impossible to find a cure for all of them. One of the diseases that doctors have been studying and have so far, unsuccessfully found a cure for is Tay—Sachs Disease. If I were a Genetic Counselor who had to speak with a couple and inform them about their child having the disease, I would provide them with the following information and approach them as follows:
Your child has been diagnosed with a disease referred to as Tay—Sachs Disease, a disease that affects the nerve cells of the brain and ultimately affects their ability to independently perform “normal” activities of daily living, such as rolling over, crawling, a sitting alone. Medically, Tay—Sachs is responsible …show more content…
(Johnston, 2012) When the body lacks HEXA, gangliosides build up within the cells, and this is most common within the nerve cells in the brain. A child is born with the disease when both parents carry a Tay—Sachs gene and each parent passes the defective gene to the child. When two Tay—Sachs genes are inherited (one form each parent) there is no production of a functional Hex—A enzyme and the child 100% likely to develop Tay—Sachs. If an individual has only one Tay—Sachs gene, they are considered to be perfectly healthy, but is a Tay-Sachs carrier. According to research it has been found that when both parents are carriers of the disease, there is a 25% chance, with every pregnancy, of them having a child born with Tay—Sachs disease and a 50% chance with each pregnancy that the child will also be a …show more content…
I understand that you probably have a lot of questions as to how and why. But remember, as I stated before, it only takes one carrier to pass on the affected gene but it takes both parents passing the affected gene for the disease to present itself, as in your daughter.
Please do not take this information and think that because both of you are carriers that you cannot have healthy children. As stated before, the more children you have, although the 25% chance still remains, the less likely they will be to have the disease, but they are likely to be carriers. There is an option available to harvest eggs and test them. In this case, the affected eggs can be removed and the healthy ones can be implanted in the uterus for fertilization. This is one way to eliminate the chance of passing the genes to future children.
If there is anything I can do to help you and your family during this process or answer any questions, please let me know. Counseling is available and I am available 24 hours a day, if you need
Your child has been diagnosed with a disease referred to as Tay—Sachs Disease, a disease that affects the nerve cells of the brain and ultimately affects their ability to independently perform “normal” activities of daily living, such as rolling over, crawling, a sitting alone. Medically, Tay—Sachs is responsible …show more content…
(Johnston, 2012) When the body lacks HEXA, gangliosides build up within the cells, and this is most common within the nerve cells in the brain. A child is born with the disease when both parents carry a Tay—Sachs gene and each parent passes the defective gene to the child. When two Tay—Sachs genes are inherited (one form each parent) there is no production of a functional Hex—A enzyme and the child 100% likely to develop Tay—Sachs. If an individual has only one Tay—Sachs gene, they are considered to be perfectly healthy, but is a Tay-Sachs carrier. According to research it has been found that when both parents are carriers of the disease, there is a 25% chance, with every pregnancy, of them having a child born with Tay—Sachs disease and a 50% chance with each pregnancy that the child will also be a …show more content…
I understand that you probably have a lot of questions as to how and why. But remember, as I stated before, it only takes one carrier to pass on the affected gene but it takes both parents passing the affected gene for the disease to present itself, as in your daughter.
Please do not take this information and think that because both of you are carriers that you cannot have healthy children. As stated before, the more children you have, although the 25% chance still remains, the less likely they will be to have the disease, but they are likely to be carriers. There is an option available to harvest eggs and test them. In this case, the affected eggs can be removed and the healthy ones can be implanted in the uterus for fertilization. This is one way to eliminate the chance of passing the genes to future children.
If there is anything I can do to help you and your family during this process or answer any questions, please let me know. Counseling is available and I am available 24 hours a day, if you need