Dealing with a Pre-Natal Tay-Sachs Diagnosis

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.


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.


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.


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.

The Trosacks appear to be Europeans of unknown descent. Their heritage is important because certain ethnic groups are more likely to be carriers of Tay-Sachs. “The incidence of Tay-Sachs is particularly high among people of Eastern European and Ashkenazi Jewish descent. Patients and carriers of Tay-Sachs disease can be identified by a simple blood test that measures beta-hexosaminidase a activity.” (NINDS, 2011). Because the Trosacks have a fetus with Tay-Sachs, it is not necessary to test their blood and examine the beta-hexosaminidase a activity of either of the parents. However, doing so may help Peter transition out of denial and understand the reality of the diagnosis.

Tay-Sachs impacts a person by interfering with genetic lipid storage. An insufficiency of the enzyme beta-hexosaminidase a, which is responsible for biodegrading gangliosides, leads to a buildup of the ganglioside GM2 in tissues and nerve cells in the brain (NINDS, 2011). Because gangliosides develop, and normally degrade, rapidly in infancy, the disease progresses rapidly.


As of this time, there is no cure for Tay-Sachs disease. Tay-Sachs is currently always fatal, though there are different variants of the disease so that life expectancy, while always significantly shortened, may vary. While there is no cure for the disease, there are treatments that can help ease the symptoms of the disease. The efficacy of those treatments is expected to decline as the disease progresses. Tay-Sachs is associated with a number of symptoms, some life-threatening and others less critical. A non-exhaustive list of symptoms includes: deafness, developmental delays, irritability, lack of energy, decline in motor ability, seizures, blindness or vision problems, decreased muscle tone, dementia, increased startle reaction, breathing problems, and slow growth (a.D.A.M., 2010).


The prognosis for Tay-Sachs is premature death, and it is important that parents understand this prognosis prior to birth, because an infant with Tay-Sachs will frequently appear healthy at birth. Generally, a person with Tay-Sachs will not survive past pre-school age. However, there are three different variations of Tay-Sachs disease: infantile, juvenile, and adult. Depending on which variation the fetus has, the prognosis for the child may be different and CVS testing cannot determine severity. Infantile Tay-Sachs is the most common. “In this form, the nerve damage usually begins while the baby is still in the womb. Symptoms usually appear when the child is 3 to 6 months old. The disease tends to get worse very quickly, and the child usually dies by age 4 or 5.” (a.D.A.M., 2010). However, not all Tay-Sachs victims die during childhood; some survive into adulthood with adult-onset of symptoms. However, “late-onset Tay-Sachs disease, which affects adults, is very rare” (a.D.A.M., 2010).

Support Groups and Referrals

Because Tay-Sachs is a relatively rare disorder and many people elect to terminate pregnancies rather than carry to term, it may be difficult for the Trosacks to find a live support group. However, there are a number of resources available for information and support. Many of these are associated with online support groups, which may provide the Trosacks with a way to interact with other parents will children with the disorder.

Genetic Alliance

4301 Connecticut Avenue, N.W., Suite 404

Washington, D.C. 20008-2369


March of Dimes

1275 Mamaroneck Avenue

White Plains, NY 10605


National Organization for Rare Disorders (NORD)


National Tay-Sachs and Allied Diseases Association

2001 Beacon Street, Suite 204


Pregnancy Information

Tay-Sachs is not expected to alter the course of the pregnancy or cause any additional complications for Rita’s pregnancy. Therefore, her pregnancy will be treated as an otherwise healthy pregnancy, given that she is in a high-risk group. Because of her increased risk of preeclampsia and gestational diabetes, Rita will be monitored for those.

Ethical Implications of Personal Genetic Information

To some people, the ethical implications of genetic testing are clear; genetic tests provide information to parents that would not otherwise be available and complicate decisions that should be easy. No genetic testing would mean that the Trosacks could at least experience the pregnancy without worry. However, this viewpoint is simplistic and ignores the tremendous pain and conflict that parents experience when dealing with the early death of a child or the repeated deaths of young children. It also ignores the suffering that accompanies many genetic disorders, including Tay-Sachs. Genetic testing can help people understand what issues they may face and make knowledgeable choices.

Probably the most significant ethical question surrounding pre-natal genetic testing is the abortion question. The reality is that many people who receive a pre-natal diagnosis of a serious genetic disorder do choose to abort the child. Many people view this as an unethical choice.

In this scenario, the real ethical dilemma may be the fact that the Trosacks wish to continue the pregnancy. There is no treatment for the disorder; the child will die prematurely. In the scenario where the diagnosis will not change the parents decision, is it then ethical to provide genetic testing? Now the Trosacks are unable to simply enjoy a pregnancy and early childhood, but instead have to worry about the child’s health. Some would suggest that in cases like the Trosacks, where religious upbringing is more likely to influence the decision to terminate or continue the pregnancy, genetic testing is unnecessary. However, the reality is that many times children with genetic disorders need immediate interventions when they are born; providing the best care for the child means being aware of disorders when that child is born.

Perhaps the thorniest ethical dilemma is not related to the current pregnancy, but linked to whether the Trosacks decide to have another pregnancy. Given their advanced age, if they wish to have another child, they will likely try to conceive before the onset of the child’s worst symptoms. They may even believe that the child is not as sick as the doctors say. However, any child they conceive will have a 25% chance of having Tay-Sachs. Is it ethical for parents to knowingly try to conceive when there is a 75% likelihood that their child will either have Tay-Sachs or be a carrier for the disease?

Personal Reflection

While I am pro-choice, I happen share the Trosacks personal beliefs about abortion, so I would find their decision an easy one to support. However, knowing the heartbreak and pain that they will face in the next few years, I know that I would be able to show them compassion, mercy, and good patient care should they change their minds and decide to terminate the pregnancy. Therefore, I do not think I would find myself second-guessing their decisions or being critical of their choices.


To me, the biggest challenge as an advocate would be helping them reconcile their decisions and ensuring that Rita is making those choices that are best for her. Because they have decided to continue the pregnancy, I think the advocate’s role is helping them find a way to see positives in the pregnancy. While the Tay-Sachs diagnosis is a horrible one that does not mean that they will never experience some of the joys of parenthood, and emphasizing those aspects is critical. This may involve working with family members who may oppose the Trosacks decision. It may also involve working with health care professionals who may not be mindful of the Trosacks position. Unfortunately, many medical professionals are not understanding of parental decisions and may not be considerate in their behavior to the Trosacks. Helping them learn to navigate through sometimes hostile healthcare professionals will be an important part of advocacy.

Ethical and Legal Considerations of Continuing the Pregnancy

I would not even suggest that the Trosacks consider the ethical implications of continuing a pregnancy. If their religious beliefs view abortion as a murder, I think it would be detrimental to their relationship with their healthcare team to advocate in favor of the ethics of an abortion in this instance. However, the decision to terminate or not to terminate is not the only ethical problem that they can expect to encounter. One ethical issue that they have to consider is how to handle the child’s transition into death. For example, will they have the doctor’s insert a feeding tube when the child becomes unable to swallow, prolonging life but also prolonging suffering?

The overriding legal concern is that the parents have to be aware that their decisions may, at some time, come into conflict with the decisions made by the child’s healthcare team. Tay-Sachs almost certainly means a horrible decline and an ugly death. Parents who follow their ethical beliefs, but not the recommendations of the medical team, may find themselves vulnerable to allegations of child abuse or neglect. In some instances, they may even risk losing custody of the child. Therefore, I would suggest that they find an attorney who is well-versed in child welfare issues if they anticipate decisions that might conflict with the recommendations of their medical team.


A.D.A.M. Medical Encyclopedia. (2010 November 17). Tay-Sachs disease. Retrieved November 11, 2012 from PubMed website:

American Pregnancy Association. (2006). Chorionic villus sampling: CVS. Retrieved

November 11, 2012 from

Genetic Alliance. (2012). Home. Retrieved November 11, 2012 from

March of Dimes. (2012). Contact us. Retrieved November 11, 2012 from

Mayo Foundation. (2012). Genetic counseling: Field description. Retrieved November 11,

2012 from Mayo Clinic website:

National Institute of Neurological Disorders and Stroke. (2011 October 6). NINDS Tay-Sachs disease information page. Retrieved November 11, 2012 from National Institutes of Health website:

National Organization for Rare Disorders. (2012). Contact us. Retrieved November 11, 2012


National Tay-Sachs & Allied Diseases. (2011). Contact. Retrieved November 11, 2012 from

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