Tay Sachs Case Study
Genetics Case Study on Tay-Sachs
WGU
Genetics Case Study on Tay-Sachs
The Trosacks have just been informed that their unborn child has Tay-Sachs disease. Now they need help, information, support, and assistance to help and understand what this is, what issues they may encounter, what choices they have, and what help may be available. Let us create a game plan. We will start with an interdisciplinary team (IDT).
For the trosack’s case I would create an IDT of a case manager, a high risk pregnancy obstetrician, a neonatologist/pediatrician, a Genetic psychologist/counselor, and a social worker. Each individual team member will bring in information …show more content…
that will help the Trosacks be able to make informed decisions throughout the pregnancy, birth, and after discharge from the hospital.
The case manager will schedule and organize the IDT meetings.
She will help with any referrals that may be needed. She will present information on Tay-Sachs and all the issues that the family may go through due to the disease and its processes. She will assist in scheduling appointments with various specialists. She will help the Trosacks prepare for the hospitalization and ensure that all arrangements are in order for the hospitalization stay. The case manager will help to prepare things for the discharge of the Trosacks back home, including having a home care referral implemented and arranged prior to the hospitalization for the birth. She will assist with insurance, helping to acquire any special equipment or help with medications as needed, and continue to assist the Trosacks with any other questions or issues that may …show more content…
arise.
The high risk pregnancy obstetrician will be able to give information on all the possible problems that could occur with this type of pregnancy. They will be able to inform the Trosacks about the types of testing, including diagnostic tests that may need to be performed throughout the pregnancy, and what the appointment schedule will be like. They are able to monitor the pregnancy more closely and are prepared for more frequent doctor visits. The obstetrician can also make any suggestions or recommendations about care during the pregnancy and after the birth.
The pediatrician will have knowledge of dealing with newborns and children with Tay-Sachs. He will be able to inform the Trosacks about what could happen with the delivery, the time right after delivery, and what could be expected throughout the life span of the child. He can also make suggestions for any other specialist that he feels may be helpful both before and after birth, and help with the referrals for any further specialist.
The Genetic psychologist/counselor will be very valuable in helping the Trosacks through this. He will be able to educate and explain the complexities of Tay-Sachs. He will be able to help them with all of the emotions and stress that they will endure from here on out. He will be able to council them both individually and together and assist them with finding support groups that contain other families trying to deal and cope with similar issues.
The social worker will be most useful after the birth of the child and the Trosacks discharge back to home, although, she will be able to have some things worked through and set up prior to the birth.
She will be instrumental in helping to obtain Home Health support. Taking care of a child with genetic and medical issues is physically and emotionally draining, and sometimes they will need help or even a break from the rigorous routine. Raising a child with special needs can also be financially overwhelming. The social worker will be able to help the Trosacks with obtaining financial help, special equipment, insurance issues, applying for Medicaid, and helping in the filling for disability for the child. With most children with Tay-Sachs not living beyond the age of five, the social worker can also assist with bringing in Hospice when the time arises.
Now that we have created our interdisciplinary team, we will create a teaching plan to go over with the Trosacks on their first appointment. We need to be able to explain to them the genetic diagnosis, the treatment plan, the prognosis of some one with Tay-Sachs, have information for support groups, have any referrals that may be needed prepared, and discuss the pregnancy and possible issues and treatments that may
occur during the pregnancy.
Tay-Sachs is an autosomal recessive genetic disorder, meaning that both parents are a carrier. With both parents as carriers, there is a 25% chance of having a child with Tay-Sachs and a 50% chance of having a child that is a carrier of Tay-Sachs. With one parent being a carrier, there is 0% chance of having a child with Tay-Sachs and a 50% chance of having a child that is a carrier of Tay-Sachs ("Tay-Sachs," n.d.). In your case, because of your age at the time of conception, we recommended a screen for fetal genetic defects. That is why we did the chorionic villus sampling (CVS). With the CVS sample we conducted an enzyme assay that measures activity of hexosaminidase in serum, leukocytes or fibroblasts. In your test the enzyme activity was decreased, which tells us that the child you are carrying has Tay-Sachs Disease.
As far as treatment goes, there is no cure or treatment for Tay-Sachs. We can help to treat symptoms of the disease in order to make the child more comfortable. The prognosis of the child is poor. Most children are healthy at birth and start to show signs and symptoms of the disease around the age of three months. The disease tends to increase rapidly, usually resulting in death by the age of four to five. Signs and symptoms include increased startle reaction, irritability, seizures, slow growth, listlessness, delayed mental and social skills, loss of motor skills, decreased muscle tone, deafness, blindness, and paralysis ("Tay-Sachs Disease," 2013). Again, we can help to treat symptoms, but we can not cure the disease.
With regards to referrals, we already have our case manager, the pediatrician, the Genetics psychologist/counselor, a social worker and our high risk pregnancy obstetrician. This is a good team to have, but we want you to have as much support and information available to you as possible. There are many support groups available to you with families and people who have gone through or are going through living with someone special to them with Tay-Sachs. There is the National Tay-Sachs and Allied Diseases Association, MD Junction Tay-Sachs Disease Support Group, and Daily Strength Tay-Sachs Disease Support Group. There are others available. They are easy to find on the internet by searching for Tay-Sachs support groups. You can also find information on Tay-Sachs and information on current research. When you research, please come to us with questions or concerns, so that we can work through them together.
In regards to the pregnancy, it should be like a normal pregnancy. You need to take your prenatal vitamins and watching your diet. You will carry the child for about 40 weeks. In most cases you will have appointments monthly with the obstetrician for the first to trimesters, unless any complications arise, then it would be as often as we feel is needed. In the last trimester we will usually see you about every two weeks until the last month, then usually weekly for the last month. You will start to feel movement around 15 to 20 weeks into the pregnancy.
We understand that this is a lot to take in and that you need time to process and think. Today we went through a general run down of information to help give you an understanding of what is going to happen. We know that you are going to need more information and have questions and concerns. We want you to take a little time to process everything and start making a list of your questions and concerns, so that we can address them at our next visit. If anything comes up before then, please feel free to give us a call. Otherwise, let us go ahead and get your next appointment scheduled.
In regards to personal genetic testing, many ethical implications could arise. One ethical dilemma could be discrimination. Employers and insurance companies could use results from genetic testing to not hire or insure people at high risk for certain genetic disorders. Just because people are at high risk does not mean that they will develop or even have children with certain genetic disorders. Genetic testing is not always accurate. A second ethical dilemma would be whether or not to terminate a pregnancy. There are those who would say to terminate and those that say it is murder to terminate. Individuals struggle to make these decisions because of personal beliefs, societal beliefs, and Christian beliefs. In the end the decision has to be their own and the results of the decision being what they themselves can live with. Could our society get to the point that genetic testing was required of everyone and that pregnancy terminations were ordered by law? I would hope not, but we do not know what the future may hold. Thirdly, genetic testing can help lead to treatments and cures for genetic diseases. Do we continue to let people have children so that we can continue to search for cures. Could we as a society deem it necessary to force these people into testing and treatment research. There are too many issues to address, but for now, these decisions need to be made by those affected and we need to advocate for them, not hold them accountable to our own belief systems.
As I have gone through the Trosack’s case, I feel that they have made the correct decision. I myself do not believe in abortion, but I do not hold it against others. It is a difficult decision to make and they need to be able to live with it. Although for myself, I do not think I would have had the testing done in the first place. I believe God does not give us more than we can handle and I know what my choice would be no matter what the testing showed. That being said, I would advocate and support the Trosacks in any decision that they chose. My ultimate job is to fight for what is right for my clients and not what others think they should do. In the end it is the Trosacks who have to live with the consequences. I will help to get them all the information that I can so that they are able to make an informed decision.
Each decision that we make in life can have ethical and legal decisions. Ethically speaking in the Trosack’s case, they were raised Catholic. Catholics do not believe in abortion or even in birth control. This played a huge role in their decision to keep the pregnancy. We will never know if they would have come to the same decision if they had not been raised Catholic. Legally speaking, there are going to be a lot of medical bills, that they are going to be responsible for. This will be a huge burden to them. We may or may not be able to find them some financial help. For some this could play a huge role in the decision to keep the pregnancy or to terminate the pregnancy. Medical bills can cause huge amounts of stress and cause irreparable damage to the relationship. The Trosacks will have to continue to make decisions that they can live with throughout the pregnancy and life of the child. They will continue to need support throughout the pregnancy, life of the child, and agter the death of the child. They have a long hard road yet still to travel.
References
Tay-Sachs Disease. (2013). Retrieved April 16, 2014, from http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002390/
Tay-Sachs Disease. (n.d.). Retrieved from http://www.tay-sachs.org/taysachs_disease.php
WGU
Genetics Case Study on Tay-Sachs
The Trosacks have just been informed that their unborn child has Tay-Sachs disease. Now they need help, information, support, and assistance to help and understand what this is, what issues they may encounter, what choices they have, and what help may be available. Let us create a game plan. We will start with an interdisciplinary team (IDT).
For the trosack’s case I would create an IDT of a case manager, a high risk pregnancy obstetrician, a neonatologist/pediatrician, a Genetic psychologist/counselor, and a social worker. Each individual team member will bring in information …show more content…
that will help the Trosacks be able to make informed decisions throughout the pregnancy, birth, and after discharge from the hospital.
The case manager will schedule and organize the IDT meetings.
She will help with any referrals that may be needed. She will present information on Tay-Sachs and all the issues that the family may go through due to the disease and its processes. She will assist in scheduling appointments with various specialists. She will help the Trosacks prepare for the hospitalization and ensure that all arrangements are in order for the hospitalization stay. The case manager will help to prepare things for the discharge of the Trosacks back home, including having a home care referral implemented and arranged prior to the hospitalization for the birth. She will assist with insurance, helping to acquire any special equipment or help with medications as needed, and continue to assist the Trosacks with any other questions or issues that may …show more content…
arise.
The high risk pregnancy obstetrician will be able to give information on all the possible problems that could occur with this type of pregnancy. They will be able to inform the Trosacks about the types of testing, including diagnostic tests that may need to be performed throughout the pregnancy, and what the appointment schedule will be like. They are able to monitor the pregnancy more closely and are prepared for more frequent doctor visits. The obstetrician can also make any suggestions or recommendations about care during the pregnancy and after the birth.
The pediatrician will have knowledge of dealing with newborns and children with Tay-Sachs. He will be able to inform the Trosacks about what could happen with the delivery, the time right after delivery, and what could be expected throughout the life span of the child. He can also make suggestions for any other specialist that he feels may be helpful both before and after birth, and help with the referrals for any further specialist.
The Genetic psychologist/counselor will be very valuable in helping the Trosacks through this. He will be able to educate and explain the complexities of Tay-Sachs. He will be able to help them with all of the emotions and stress that they will endure from here on out. He will be able to council them both individually and together and assist them with finding support groups that contain other families trying to deal and cope with similar issues.
The social worker will be most useful after the birth of the child and the Trosacks discharge back to home, although, she will be able to have some things worked through and set up prior to the birth.
She will be instrumental in helping to obtain Home Health support. Taking care of a child with genetic and medical issues is physically and emotionally draining, and sometimes they will need help or even a break from the rigorous routine. Raising a child with special needs can also be financially overwhelming. The social worker will be able to help the Trosacks with obtaining financial help, special equipment, insurance issues, applying for Medicaid, and helping in the filling for disability for the child. With most children with Tay-Sachs not living beyond the age of five, the social worker can also assist with bringing in Hospice when the time arises.
Now that we have created our interdisciplinary team, we will create a teaching plan to go over with the Trosacks on their first appointment. We need to be able to explain to them the genetic diagnosis, the treatment plan, the prognosis of some one with Tay-Sachs, have information for support groups, have any referrals that may be needed prepared, and discuss the pregnancy and possible issues and treatments that may
occur during the pregnancy.
Tay-Sachs is an autosomal recessive genetic disorder, meaning that both parents are a carrier. With both parents as carriers, there is a 25% chance of having a child with Tay-Sachs and a 50% chance of having a child that is a carrier of Tay-Sachs. With one parent being a carrier, there is 0% chance of having a child with Tay-Sachs and a 50% chance of having a child that is a carrier of Tay-Sachs ("Tay-Sachs," n.d.). In your case, because of your age at the time of conception, we recommended a screen for fetal genetic defects. That is why we did the chorionic villus sampling (CVS). With the CVS sample we conducted an enzyme assay that measures activity of hexosaminidase in serum, leukocytes or fibroblasts. In your test the enzyme activity was decreased, which tells us that the child you are carrying has Tay-Sachs Disease.
As far as treatment goes, there is no cure or treatment for Tay-Sachs. We can help to treat symptoms of the disease in order to make the child more comfortable. The prognosis of the child is poor. Most children are healthy at birth and start to show signs and symptoms of the disease around the age of three months. The disease tends to increase rapidly, usually resulting in death by the age of four to five. Signs and symptoms include increased startle reaction, irritability, seizures, slow growth, listlessness, delayed mental and social skills, loss of motor skills, decreased muscle tone, deafness, blindness, and paralysis ("Tay-Sachs Disease," 2013). Again, we can help to treat symptoms, but we can not cure the disease.
With regards to referrals, we already have our case manager, the pediatrician, the Genetics psychologist/counselor, a social worker and our high risk pregnancy obstetrician. This is a good team to have, but we want you to have as much support and information available to you as possible. There are many support groups available to you with families and people who have gone through or are going through living with someone special to them with Tay-Sachs. There is the National Tay-Sachs and Allied Diseases Association, MD Junction Tay-Sachs Disease Support Group, and Daily Strength Tay-Sachs Disease Support Group. There are others available. They are easy to find on the internet by searching for Tay-Sachs support groups. You can also find information on Tay-Sachs and information on current research. When you research, please come to us with questions or concerns, so that we can work through them together.
In regards to the pregnancy, it should be like a normal pregnancy. You need to take your prenatal vitamins and watching your diet. You will carry the child for about 40 weeks. In most cases you will have appointments monthly with the obstetrician for the first to trimesters, unless any complications arise, then it would be as often as we feel is needed. In the last trimester we will usually see you about every two weeks until the last month, then usually weekly for the last month. You will start to feel movement around 15 to 20 weeks into the pregnancy.
We understand that this is a lot to take in and that you need time to process and think. Today we went through a general run down of information to help give you an understanding of what is going to happen. We know that you are going to need more information and have questions and concerns. We want you to take a little time to process everything and start making a list of your questions and concerns, so that we can address them at our next visit. If anything comes up before then, please feel free to give us a call. Otherwise, let us go ahead and get your next appointment scheduled.
In regards to personal genetic testing, many ethical implications could arise. One ethical dilemma could be discrimination. Employers and insurance companies could use results from genetic testing to not hire or insure people at high risk for certain genetic disorders. Just because people are at high risk does not mean that they will develop or even have children with certain genetic disorders. Genetic testing is not always accurate. A second ethical dilemma would be whether or not to terminate a pregnancy. There are those who would say to terminate and those that say it is murder to terminate. Individuals struggle to make these decisions because of personal beliefs, societal beliefs, and Christian beliefs. In the end the decision has to be their own and the results of the decision being what they themselves can live with. Could our society get to the point that genetic testing was required of everyone and that pregnancy terminations were ordered by law? I would hope not, but we do not know what the future may hold. Thirdly, genetic testing can help lead to treatments and cures for genetic diseases. Do we continue to let people have children so that we can continue to search for cures. Could we as a society deem it necessary to force these people into testing and treatment research. There are too many issues to address, but for now, these decisions need to be made by those affected and we need to advocate for them, not hold them accountable to our own belief systems.
As I have gone through the Trosack’s case, I feel that they have made the correct decision. I myself do not believe in abortion, but I do not hold it against others. It is a difficult decision to make and they need to be able to live with it. Although for myself, I do not think I would have had the testing done in the first place. I believe God does not give us more than we can handle and I know what my choice would be no matter what the testing showed. That being said, I would advocate and support the Trosacks in any decision that they chose. My ultimate job is to fight for what is right for my clients and not what others think they should do. In the end it is the Trosacks who have to live with the consequences. I will help to get them all the information that I can so that they are able to make an informed decision.
Each decision that we make in life can have ethical and legal decisions. Ethically speaking in the Trosack’s case, they were raised Catholic. Catholics do not believe in abortion or even in birth control. This played a huge role in their decision to keep the pregnancy. We will never know if they would have come to the same decision if they had not been raised Catholic. Legally speaking, there are going to be a lot of medical bills, that they are going to be responsible for. This will be a huge burden to them. We may or may not be able to find them some financial help. For some this could play a huge role in the decision to keep the pregnancy or to terminate the pregnancy. Medical bills can cause huge amounts of stress and cause irreparable damage to the relationship. The Trosacks will have to continue to make decisions that they can live with throughout the pregnancy and life of the child. They will continue to need support throughout the pregnancy, life of the child, and agter the death of the child. They have a long hard road yet still to travel.
References
Tay-Sachs Disease. (2013). Retrieved April 16, 2014, from http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002390/
Tay-Sachs Disease. (n.d.). Retrieved from http://www.tay-sachs.org/taysachs_disease.php