In reading this case study and other articles online, I find this a heartbreaking disease and am thankful that I have had the healthy children that I have. There are several key interdisciplinary members that I would place on the team for this family. I would utilize an obstetrician, geneticist, social worker and clergyman or priest. I feel there are many other additional appropriate team members that could be involved as well, but I will focus on the above listed. I chose the obstetrician because Mrs. Trosack is pregnant, and although her age is greater than optimal for childbearing, she is generally in good health.
The obstetrician will provide management and care of the pregnancy by monitoring the stages and health of the baby in utero, as well as signs and symptoms of distress. He/she would also supply Mrs. Trosack with teaching regarding diet and exercise, proper body mechanics for her changing body during pregnancy, prenatal vitamins, labor and delivery expectations, breastfeeding and how to stay healthy during pregnancy and after birth. The next team member would be the geneticist.
Because this is a genetic disease, I think it would be extremely helpful and comforting to the family to have a specific and knowledgeable genetics professional on the team. That member would share with and teach the family the many intricacies of the disease, as well as hopefully quell any misconceptions that the parents had somehow “caused “ this to happen to them, by something they had or had not done physically or through their lifestyle choices. I feel it would be very important to let them know that they are in no way at fault for this disease.
The social worker is the next team member on my list. Being in home health myself, I have seen that there are so many implications for social workers and their input and resources that can and are helpful to many people in the community. In this case, social worker could provide resources for family, grief and coping counseling, home health care services, government agencies that could benefit them, such as Medicare. They would also advocate for the family to help them receive these services, as well as follow up with them to ensure that they are effective. [ (Bureau of Labor Statistics, 2012) ]
The last member would be the clergyman, depending on the faith that the couple decides to follow and utilize, if they decide to receive support from any. They may decide to adhere to one faith or another if, and when, they realize and accept the gravity of their situation. It may be a comfort and peace to them to seek solace in a higher power as well as a possible guiding factor to any decisions that they need to make for the future of their family. The clergyman can reassure the parents that this disease was not caused by them and help them to cope spiritually to their situation.
The teaching plan for the Trosack family would include information on the following areas. Genetics: It is an autosomal recessive disease, meaning that a child must inherit one defective gene from each parent. It is a neurologic disorder that progressively destroys the neurons (nerve cells) of the brain and spinal cord. This is due to the mutations in the HEXA gene. The HEXA gene provides instructions for making the enzyme beta-hexosaminidase A, which breaks down fatty GM2 gangliosides and toxins in the lysosomes.
In mutated HEXA genes, the ability to break down these toxins and fats by the beta-hexosaminidase A is disrupted, and the toxic substance accumulates on the neurons in the brain and spinal cord, and destroys them. The progressive damage of the neurons causes the signs and symptoms of Tay-Sachs disease. The disease instance is significantly higher in Eastern European Jewish populations, Non-Jewish French Canadian communities in Quebec, the Old Order Amish community in Pennsylvania, as well as in the Cajun population in Louisiana. (Genetic Home Reference, 2012) ]
Treatment: At this time there is no cure for Tay-Sachs disease. Researchers are actively looking for possible ways to treat this disease through gene therapy, bone marrow transplantation and enzyme replacement. Even without a current cure, there are many ways to moderate and slow the onset of the affects of the disease. Diet, exercise, physical therapy and medication therapy can all be a part of the plan to increase quality of life for the patient as the disease progresses.
Tube feedings would provide adequate nutrition through supplements so the patient could maintain weight and growth. Frequent suctioning would help maintain an open airway and help resist infection and breathing problems. Vigilant skin care regimens would prevent and treat pressure ulcers if the child/patient was bedridden. Stool softeners and laxatives would help relieve constipation. [ (Tay-Sachs disease, 2005) ] Prognosis: In the most common form of infantile onset, the prognosis is quite guarded.
When an infant is diagnosed, death usually occurs within 4-5 years, following progressive mental and motor deterioration, increased seizures, and with the death usually caused by pneumonia. If the onset is in later years (Juvenile, ages2-10), the life expectancy depends on the rate and severity of progression. Main signs in Juvenile form are clumsiness and trouble talking, and are usually followed by seizures and decreased mental function. Eventually, blindness, rigidity and unresponsiveness are followed by death between 10-15 years of age. Chronic (adult form) trouble walking, increasing clumsiness, and troubled speaking ability.
Sometimes characteristics of adult onset can be mistaken for ALS or Lou Gehrig’s disease. [ (Tay-Sachs disease, 2005) ] Support groups and appropriate referrals: There are many groups and organizations available for family support. The organization that comes to mind first is The March of Dimes. In Chicago specifically there is a group called Chicago Center for Jewish Genetic Disorders. They have support group meetings, a newsletter and a blog where the Trosacks can find others to connect with and share experiences, problems and positive moments. Center for Jewish Genetics, 2002)
Having the knowledge that your baby is going to be born with a severe and debilitating disease could be somewhat disheartening, and I would hope the doctors would suggest some psychiatric and couples counseling to prepare the Trosacks for that. Pregnancy information: Basically, in the physical respect, the pregnancy would be similar to any other pregnancy. The obstetrician will provide information regarding nutrition and exercise to keep Mrs. Trosack healthy as well as some suggestions to help quell the morning sickness and fatigue.
Decreasing hours at work would be a good start for her, too. Prenatal vitamins that provide needed nutrients and minerals for the growing fetus would most likely be advised, in addition to any other medications and therapies that could improve the mother and baby’s health and well being. There are several ethical implications regarding the availability of personal genetic information about expectant parents, and especially for parents who may be possible carriers for certain hereditary diseases. These include clinical issues, personal and family relationship issues and future reproductive issues.
If parents think they may have genetic predisposition to certain diseases, such as Tay-Sachs, doctors and nurses should be asking all the appropriate questions regarding family history and known illnesses that have occurred in past generations, and they can recommend and refer the parents to the appropriate professionals for the needed genetic testing to determine whether either of them are carriers, or if they are at risk for having a child with the disease. For future reproduction issues, if they are tested before getting pregnant and find they are at high risk, they can decide whether or not to become pregnant.
If testing is done during pregnancy, and it is positive for this or other progressively degenerating disease, they can have the choice to abort, adopt out or to keep the baby. What about people who just want genetic testing so they can, “make sure”, their baby won’t be born with any defects or diseases. Once a couple knows they are having a high risk pregnancy, or they find that their baby will be born with a certain disease, this can impact their relationship with each other as well as with other family members.
There can be stigma associated with certain diseases depending on culture or economic status. I don’t think any test is 100% accurate for screening out all diseases and defects. These tests are expensive and if patients don’t have insurance that would cover them, it might be a matter of who can afford them. I think that if people have a genetic predisposition for disease determined by family history, geographical location or ethnicity, then they should be covered by insurance to get the tests performed.
Reflection: I personally think the Trosacks are making the right choice in keeping their baby. I believe that every child is a gift from God and there are reasons for everything that happens to us. Even in difficult times we can learn and grow and see all the blessings that He gives to us. I am always thankful for having had children that were healthy and complete, but I think I would love a child no matter what condition it was in when born, or what handicaps we would have to deal with.
I know acceptance can be a hard pill to swallow sometimes, but with acceptance, comes peace, and with that, the ability to be able to handle the difficult times that are sure to be ahead. I lost a child to SIDS many years ago. I remember the difficulty in trying to understand why a perfectly healthy baby can just die for no apparent reason. I think when the Trosacks finally come to realize and accept the disease as a given, they will have a better ability to care for and love the baby when it is born, as well as love and support each other in their different ways that they may grieve.
I would advocate for the couple by getting them in contact with any and all resources that they could want, that I would have access to. From reading materials, symposiums and doctors who specialize in hereditary diseases, to support groups that can help them cope with pregnancy, birth and caring for a handicapped child. Ethical considerations that could affect the couple could come from friends and family. They may think that it is wrong to bring a child into the world if it is only going to suffer, and cause anguish for family.
They might feel that the child would cause a hardship due to all the extra care the child would need, both domestically and medically. Medications, special equipment, possibility of in home care givers, besides the family, could cause a financial burden on the family. As for legal implications, there should be no contest from anyone on the legal forum if the family wants to have this baby. This should be a personal choice, and if they want to let this child be born, care for it, love it, and provide all it needs for its life and care then they should be able to do it.
Courtney from Study Moose
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