Tay-Sachs disease is a genetic disorder in which, an auto-recessive gene is passed down to the child by both parents. It progressively destroys nerve cells in the brain and spinal cord. The gene is responsible for producing an enzyme that will cause the breakdown of lipids. The defective gene is unable to produce the enzyme; therefore, there is an accumulation of lipids. When there is too much lipids stored in the body, it is harmful to the body’s cells. Ganglisides (a form of lipids) buildup in the brain and ultimately kill the brain cells, which results in an impaired function.
There are 3 types of Tay-Sachs: infantile, juvenile and adulthood. The latter two are less severe. Tay-Sachs in an infant will begin to slowly stop progression of the child’s movements. For example, rolling, crawling and sitting. As the disease progresses, the infant most likely will experience blindness, seizures and paralysis (Tay – Sachs Disease, Oct. 2012). In the case study that was provided, Mr. and Mrs. Trosack have conceived a child. Mrs. Trosack had a genetic screening performed at her first prenatal visit. This was performed due to her maternal age. One of tests came back positive for Tay-Sachs disease.
After hearing this devastating news, she and her husband have agreed to meet with an interdisciplinary team to discuss her plan of care. During her visit with the team, a teaching plan will be presented to the both of them and the ethical implications that will rise. The Trosacks have already decided that abortion is not an option. Interdisciplinary Team An interdisciplinary team has been brought together to discuss the matter of Tay-Sachs disease with Mr. and Mrs. Trosack. This team is comprised of 5 key team members. Although, there will be plenty of healthcare professionals involved in Mrs. Trosack and the infant’s care, these key members will cover the basics needed.
The first member of this team is the perinatalogist. This is a high risk obstetrician. He will be managing the care of the pregnancy. Mrs. Trosack can plan on having a non-stress test performed with each visit after 24 weeks of pregnancy. This test will determine if the fetus is under any amounts of stress without the added stress of uterine contractions. The perinatalogist will also perform monthly ultrasounds to ensure growth and development of the fetus. This test will determine any abnormal physical features or growth patterns.
The ultrasound will also diagnose placenta growth abnormalities, along with inadequate amounts of amniotic fluid. The perinatalogist will discuss the pregnancy expectations and signs and symptoms of problems that may occur with the Trosacks. He will be able to answer their questions that pertain to a high risk pregnancy. The second key team member is the genetic counselor. This genetic counselor will be present due to the fact that this is a genetic abnormality. This counselor will need to obtain a medical history, as well as, a family history of the both Mr. and Mrs. Trosack.
The counselor will be able to provide an explanation of how Tay-Sach disease is inherited, recommend specific tests and be able to discuss the genetic test results that was already given and how Tay-Sach is diagnosed. The counselor will also provide a prognosis. Tay-Sach Disease does not have a good outcome. The disease usually will cause death in early childhood. The genetic counselor will also provide supportive counseling to the couple. The third key member of the interdisciplinary team is a social worker. The social worker will be able to assist with financial resources and support groups.
The social worker will be able to provide information on local support groups, as well as, national support groups and resources. The social worker will also act, as an insurance case manager; and work with the insurance company on preauthorizing procedures. She will also be able to assist with an application for a Medicaid waiver. Usually with Medicaid there is a waiting list for services but due to the rapid progression of this disease, Medicaid usually will provide financial coverage at birth (“Infantile/Juvenile- First Steps, n. d). The fourth member of the team is the high risk pediatrician.
This is a physician that provides care for newborns who will may or may not require intensive care. The pediatrician will be present at the meeting because once the child is born, he will assume care of the infant. He will also be able to provide counsel to the parents and help prepare the parents on what to expect with this newborn. He will also be the one to consult with the pediatric surgeon, neurologist, cardiologist, and gastroenterologist once the child starts to decline. The fifth and final interdisciplinary team member is the high risk OB nurse.
The nurse is the one who will be setting up the Non-stress tests, and performing simple tasks like vital signs, urine analysis. She will need to be aware of plan of care and be able to support the patient and her spouse. She will be able to assist the perinatalogist with procedures and educate the patient as needed. Teaching Plan A teaching plan for Mr. and Mrs. Trosack is a well-rounded information guide about Tay-Sachs disease and all that it entails. The teaching plan has 5 classifications: genetic diagnosis, treatment, prognosis, referrals and pregnancy information. Each item is as followed:
Genetic diagnosis of Tay-Sachs disease can be performed prenatally by an amniocentesis or by chorionic villus sampling (CVS). CVS testing is performed by taking a sample of the chorionic villi from the edges of the placenta. This test is performed between the 10th and 12th week of gestation. DNA analysis is then used to test that tissue. The DNA analysis is used to determine if Hexosaminidase A is present or not. If it is present the infant will not be affected by Tay-Sachs disease. Hexosaminidase A deficiency is caused by the deficiency of the enzyme Beta-hexosaminidase A.
Along with genetic testing, a family history will need to obtained or a population screening to see if there is a relation to Ashkenazi Jewish heritage. This population has the highest incidence rate of Tay-Sachs disease. 1 out 4 people with Ashkenazi Jewish heritage is a carrier (“Ashkenazi Jewish”, April 2010). The disease is also prevalent in certain French/Canadian communities in Quebec, Old Order Amish Community in Pennsylvania and Cajun communities in Louisiana (“Tay-Sachs Disease”, Oct. 2012). The disease is passed on when both parents are carriers of the defective gene.
Each child that a couple conceives will have a 25% chance of having Tay-Sachs disease because they will have received 2 defective genes (one from each parent) and each child will have a 50% chance of being a carrier of the abnormal gene due to 1 gene being passed on as abnormal and one gene being passed on as normal. A child will also have a 25% chance of receiving both normal genes and he/she would not be affected at all. However, there is no way to determine if the child will be affected until after conception and a CVS test or amniocentesis is performed.
While there is no cure for this disease, the treatment for Tay-Sachs disease is management and support of symptoms. The signs and symptoms usually begin sometime between 3-6 months. Up until this point the child has progressed and has reached expected infant milestones. The child usually will start to regress at this age and begin with loss of motor skills, generalized weakness, and increased response to startle noise and myoclonic jerks, which are sudden contractions of large muscles. The child will then start to lose milestones that he or she has already exhibited, like sitting up and rolling over.
The child will experience a loss in vision and a loss in alertness. A classic sign of Tay-Sachs disease is a cherry- red spot on the retina. A doctor using an ophthalmoscope would be able to diagnose this when performing a visual exam. Other symptoms include deafness, dementia, irritability and delayed mental and social skills. Usually by age two, the child will start to have feeding problems due to inadequate swallowing, seizures and eventually become in a vegetative state. Supportive care would include, anticonvulsants, feeding tubes, respiratory support and comfort measures. Prognosis is poor for children with Tay-Sachs disease.
Even with the best of care, death is inevitable and usually occurs between 2-4 years of age, mostly due to pneumonia (“Tay-Sachs Disease”, n. d. ). Tay-Sachs disease can be screened either pre-conception or after conception. If the woman decides to keep the fetus and follow through with the pregnancy, the woman will be followed by a perinatalogist throughout the remaining of the pregnancy to ensure growth and development of the fetus and the woman. Supportive management will be needed for the parents of the fetus. The parents will need as much education and referrals as possible.
Local support groups, as well as, national support groups will be imperative for the Trosack’s. National Tay-Sachs and Allied Diseases (NTSAD) is a national support group and a leader in research funding. This organization is well organized and provides information needed to the newly diagnosed, such as, diagnoses, treatments, research, fundraising and local support groups. The NTSAD will check in on families, offer words of encouragement and link them up with other families who are suffering with Tay-Sachs disease. Other support groups are found on the internet as well.
The referrals needed for the Trosack’s is a genetic counselor, someone to talk to and express their frustrations, concerns and fears. They also will need referrals to a pediatric surgeon, neurologist, gastroenterologist, pulmonologist, and a social worker. All of these health professionals will be able to assist the Trosack’s in their decision making and support. These referrals will be able to provide their professional opinions, provide education and other supportive measures. All of these referrals can be made early on, so the Trosacks will have the opportunity to interview these physician’s prior to needing them.
This way, they will be able to find someone whom they trust and they will also be able to prepare themselves before the infant starts to decline. Ethical Implications There are several ethical implications regarding the availability of personal genetic information. Three of those implications are genetic discrimination, decreasing the right to privacy and confidentiality, and an individual may base life altering decisions based on the genetic test results. Genetic discrimination has been occurring since the mid 1900’s. In 1924, the Virginia Eugenic Sterilization Law was passed.
Under the Eugenical Sterilization Act, individuals confined to state institutions “afflicted with hereditary forms of insanity that are recurrent, idiocy, imbecility, feeble-mindedness or epilepsy” could be sterilized (Landman 1932, p. 84). The sterilization of Carrie Buck is one of the most famous cases in United States history. Justice Oliver Wendell Holmes Jr. ruled that Carrie Buck, her mother and her 6 month old daughter were feebleminded and all three were sentenced to sterilization. It was said by Supreme Court Justice, Oliver Holmes that “three generations of imbeciles are enough” (Lombardo 2003, pp. 2-4; Paul 1965, pp. 97-507).
Because of this law and other similar state laws over 60,000 people were sterilized throughout the U. S. (Fulde & Lykens, Mar. 2006). Another ethical implication regarding personal genetic information is it may decrease the right to privacy and confidentiality which can often lead to genetic discrimination. An individual may fear that his or her employer or the insurance company will use the results from the genetic test and use the information against them. Some fear they would not be covered by insurance companies, have their benefits decreased, or premiums increased once they found out they were carriers of a mutated gene.
When dealing with one’s privacy, the question remains “who needs to know the results? ” If a result affects multiple people, do they have the right to know and who can tell them? It is a hard ethical decision on the physician and the individual. If an individual has a genetic disorder, then not only may their children be a risk, but the individual’s siblings, parents and other extended family member’s. This genetic test result may affect all aspects of their life. A third ethical implication of genetic testing is the results of the test may alter one’s life decisions.
The information may persuade the individual from ever having children, getting married or even choosing a different career path. With all the ethical decisions to be made, it is clear, the individual being tested must be given all the options involved along with education of the diagnosis, treatment, prognosis, referrals and support groups. This will allow for coping and management of the individual’s changed life. Personal Views Although every person is different and every circumstance is different, it would be a very hard decision to make.
I understand their decision to keep the baby and not abort. They had been trying to conceive a child for multiple years and to finally become pregnant brings a lot of joy. However, being a parent of a special needs child, I am not sure that I agree with the Trosack’s decision to keep the infant. I feel that it is a selfish act on their part to subject the baby to that kind of a life. I think that all they can see right now, is a baby. Not a baby who will need tube feedings, not a baby that will need to be on a sedative and not a baby that will seize uncontrollably for hours on end.
Right now they are blaming themselves, or denying altogether; but I can’t see them wrapping their minds around the magnitude of this disease. I understand how hard it is raise a child who is disabled. It is a 24 hour job for the rest of my life; and even then the responsibility will fall onto my other children to be the primary care taker of my daughter (if she lives that long). I did opt out of the genetic testing when I was pregnant with her. I was unaware of the hardships we would go through. Would I do it again, if I had known? I am not sure. I do know that my child was not given a death sentence by age 4.
I do know that she does not suffer from blindness, dementia or paralysis. So it is difficult to answer, but to say I would do it again in a heartbeat would be a lie. I do believe that everyone has a right to make their own decisions without being swayed one way or another. I would totally support the Trosack’s with their decision by providing them in the education and knowledge they would need to have this child. I would provide them with the education needed not only verbally, but in a written form as well. I believe that more ways to give the information, the more likely they will learn from it.
I would also allow them to vent their feelings, frustrations and fears. It is very important that they, the Trosacks have someone they trust, so they feel free to discuss their feelings. I would be their voice, their advocate, and help them gain the assistance they need. I would fight for their rights and the rights of the fetus by assisting with insurance coverage, getting them the referrals they need and if nothing else be a sounding board for them so they can vent. A legal consideration that affects the couple keeping the baby is the gestation of the fetus.
In many states an abortion is only performed within the first 16 weeks. An ethical consideration that affects the Trosacks is their religion of Catholicism. Catholics oppose abortion due to the belief that human life begins at conception. After many considerations, both ethical and legal, the Trosacks made a decision that is best for them. Tay-Sachs is a horrible debilitating disease that affects too many children in the world. To date there is no cure, but thanks to many for raising funds for research, scientists are getting closer. Hopefully, one day this disease will have a cure.