"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.

Treatment

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).

Prognosis

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

800-336-4363

http://www.geneticalliance.org

March of Dimes

1275 Mamaroneck Avenue

White Plains, NY 10605

888-663-4637

http://www.marchofdimes.com

National Organization for Rare Disorders (NORD)

203-744-0100

http://www.rarediseases.org

National Tay-Sachs and Allied Diseases Association

2001 Beacon Street, Suite 204

800-906-8723

http://www.ntsad.org

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...

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.

Advocacy

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.