Trosack Family: Dealing With a Pre-Natal Tay-Sachs Term Paper

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Trosack Family: Dealing with a Pre-Natal Tay-Sachs Diagnosis

Rita Trosack has just been referred to a high-risk prenatal clinic because of a prenatal diagnosis. Rita Trosack is 43 years old and is married to Peter Trosack, who is 46 years old. They were both raised Catholic, though neither is practicing. They have been married for six years, trying to conceive for two years, and this is their first pregnancy. Routine CVS screening due to Rita's age revealed that the fetus has Tay-Sachs disease. This diagnosis led to the Trosacks' referral to the clinic. This treatment plan will focus on selecting members of the interdisciplinary team, creating a teaching plan, discussing the ethical implications of genetic information, the practitioners personal reflections, how to advocate for the Trosacks, and the ethical and legal implications of the choices available to the Trosacks.

Interdisciplinary Team

With complicated diagnoses, it is important to develop an interdisciplinary treatment team to handle all of a family's various medical concerns. This is because a family dealing with complicated issues will have needs that exceed those of the average patient, and which are critical. They will also likely deal with emotional issues that need professional attention. A Tay-Sachs diagnosis can be particularly difficult because, unlike many conditions requiring referral to a high-risk obstetrician, the condition is not apparent at birth. On the contrary, infants with Tay-Sachs generally appear perfectly healthy, with deterioration occurring around toddlerhood. Therefore, the family will need an interdisciplinary team that can transfer with them from pregnancy to childhood.

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Obstetrician

TOPIC: Term Paper on Trosack Family: Dealing With a Pre-Natal Tay-Sachs Assignment

The first member of Rita's interdisciplinary team is the obstetrician. Because of her advanced age, her pregnancy is considered high-risk. The Tay-Sachs diagnosis means that the pregnancy is considered a high-risk one, but does not add any additional complications for the mother's condition during the pregnancy. It also does not threaten fetal health. Therefore, the high-risk obstetrician will be there to help treat any of the possible expected complications of a high-risk pregnancy due to advanced maternal age. These problems include preeclampsia, early labor, and gestational diabetes. One of the risk factors associated with older mothers is genetic disorders in the child, but the genetic testing has already been done and no additional genetic diagnoses are anticipated.

There are some conditions that can be diagnosed and treated prenatally. However, Tay-Sachs is not one of those conditions; there are no interventions that the obstetrician can employ to change the outcome for the infant. However, it is still important for both Rita's health and the infant's health that she maintain a healthy pregnancy. Therefore, observation, monitoring, and advice are critical. The obstetrician's job will be to provide that information. In addition, because the obstetrician will be the Trosacks' main health care provider, she will be responsible for providing basic information about Tay-Sachs disease and be their resource for referrals. The obstetrician will also want to make sure that the Trosacks are engaging with the rest of their interdisciplinary team.

Therapist

The second member of the interdisciplinary team is a mental health professional or therapist. Receiving a diagnosis that means the early death of a child is devastating for any parent, and access to mental health care can be critical for the mental, emotional, and physical health of both parents. Both of the parents can be expected to deal with all of the various stages of grief during the pregnancy and during the life of the child. Furthermore, because they have chosen to parent the child, they may need a mental health professional's guidance to ensure that they are parenting appropriately and dealing with the child's physical and emotional needs.

While the initial referral would be to a single family therapist, there are concerns that the parents may actually need to visit two separate mental health professionals, or at least have separate visits with the mental health professional. They are not experiencing the same feelings about the pregnancy. Rita feels guilt, while Peter feels denial. Both of these emotions could be interfering with their decision-making process. It is critical for a health professional to them engage in rational decision making because, while they have chosen not to terminate the pregnancy at this time, if they change their minds and decide to terminate, there is a limited window of time in which that is an acceptable option. A therapist can help them work through their feelings and discover if the decision not to terminate is a way for Rita to punish herself for her perceived culpability in the fetus's illness, the result of Peter's denial and belief that the baby will be born healthy, or simply a reflection of their personal beliefs about abortion.

The therapist will need to be familiar with Tay-Sachs disease, but is not the professional responsible for educating the family about the disorder. Instead, the therapist will be focusing on the parents' mental health. Therefore, it is not necessary for the therapist to have experience dealing specifically with a Tay-Sachs diagnosis. However, the therapist needs to be willing to educate himself about the implications of the diagnosis.

Genetic Counselor

The genetic counselor plays a critical role on the interdisciplinary team. Genetic counselors play an important role, interacting with both the family and the rest of the health care team. "As members of a health care team, genetic counselors serve as educators to their patients, to physicians, other health care providers, as well as to society" (Mayo Foundation, 2012). What the counselor will do is help the family understand the disease, understand the likelihood of Tay-Sachs occurring in future pregnancies, and understand the implications, if any, for other family members. Furthermore, genetic counselors can help the family members and the other members of the team deal with the ethical, moral, and legal issues that can arise with genetic disorders.

Pediatrician

The final member of the interdisciplinary team is the pediatrician. At this time, the Trosacks intend to have the baby and the reality is that this child will experience serious health problems during its childhood and will die. It is critical for them to have a pediatrician who is capable of handling the demands of a Tay-Sachs diagnosis, who is willing to respect the parents' wishes, but who is also going to ensure that the child is as comfortable as possible when health begins to decline. As the illness progresses, the child will begin to experience breathing problems. The pediatrician needs to be well-versed in caring for those problems and capable of teaching the Trosacks how to manage breathing problems at home. The pediatrician will probably face the most challenges of any member of the interdisciplinary team, because she will be responsible for helping the parents manage the child's illness, will be the one to tell the parents when the child is experiencing the expected symptoms, and will help the parents as the child dies.

Teaching Plan

The purpose of a teaching plan is to give the patients information about the diagnosis. Generally, a teaching plan will include all of the family's options. Given that the Trosacks have indicated that they want to continue the pregnancy, the teaching plan will emphasize the prognosis for the child. This is not to attempt to change the Trosacks' minds about continuing the pregnancy, but to ensure that they have sufficient information to parent the child after she is born. In addition to teaching the parents about the prognosis of the disease, the teaching plan will cover information about the causes of the disease, implications for future pregnancies, and recent developments in the field. The teaching plan will include referral information for support groups and for additional information.

Genetic diagnosis

This genetic diagnosis was the result of chorionic villus sampling (CVS). CVS detects chromosomal abnormalities in a fetus. It is highly accurate; the accuracy level is between 98-99% (American Pregnancy Association, 2006). Therefore, the confidence in the diagnosis is high, and the parents need to understand that CVS is different from some prenatal screening tests that receive a number of false positives. As a result, the medical team should proceed as if the diagnosis is certain.

Tay-Sachs is a rare genetic disorder. Like other genetic disorders, it is caused by a chromosomal defect. In Tay-Sachs, the defect is on chromosome 15. Parents can be carriers of the defective chromosome without having the disorder themselves. However, "When both parents carry the defective Tay-Sachs gene, a child has a 25% chance of developing the disease. The child must receive two copies of the defective gene -- one from each parent -- in order to become sick. If only one parent passes the defective gene to the child, the child is called a carrier. He or she won't be sick, but will have the potential to pass the disease to his or her own children" (a.D.A.M, 2010). Therefore, the Trosacks not only have to deal with the reality that they have a fetus with Tay-Sachs, but also that there is a significant possibility that any future children will have the disorder.

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