Huntington's disease is a genetic neurological disorder that is characterized by the progressive deterioration of the nerve brain cells. HD has a large impact on an individual’s ability to function and typically causes cognitive and psychiatric syndromes. Even though HD patients with symptoms are seldom found during pregnancy because most people develop symptoms in their 30s and 40s, it is a more common occurrence to see older women pregnant nowadays, so doctors should expect to find pregnant patients with HD (Hoskins, 2007). An extensive search of the PubMed database from 1965 to 2008 resulted in hundreds of research studies written on the diagnosis a treatment of prenatal healthy patients that are at risk for developing Huntington’s. Zero of the studies reports on women with advanced HD and pregnant. Therefore, this case study explains the descriptive complex path of a patient, whom notwithstanding the obstacles, are capable to provide a successful delivery with the backing of family and good medical care.
At 29 weeks, she was taken into preterm labor, but was halted when her cervix dilated 3.5 cm after she was given premature birth suppression drugs for lung development. As a result of her rare form of diabetes (DI), she produced thirstiness with an immense desire to drink tons of liquids and also expelling a lot of urine. Another aspect of her symptoms included acute renal failure thus she was treated with a desmopressin to alleviate the elevated flow of body fluids and her body responded positively to this. After delivering the baby, the doctors unsuccessfully stopped the patient dependence on the desmopressin drug and therefore remained on a maintenance dosage. The patient’s pain in swallowing caused greater malnutrition so the doctors switched to direct feeding into the duodenum via feeding tubes. Dealing with internal tube feeding proved to be challenging with the regular tube displacement and the woman’s inflamed lungs. PEG was used to drive the tool through the abdomen into the stomach (Sneider, 2007). However, the technique failed as well because the patient’s stomach was distorted amongst other problems. Antibiotics and absolute eternal feeding were commenced.
The patient also began exhibiting kidney inflammation caused by a microbial infection. Still, her body reacted to the right antibiotics. At 34 weeks, the fetal membranes became inflamed as a result of bacteria contamination so the doctors induced her labor. She was administered an epidural anesthesia and naturally gave birth to a little boy with the positive and promising Apgar scores for physical condition. Her central line was superseded 24 hours following her delivery due to questioned site infection. The patient reacted to a large range of antibiotic medications and the PEG tube was effectively positioned 1 week subsequent the delivery and enteral feeds restarted. She was cleared after two weeks subsequent her delivery and the baby was sent home one month later.
Discussion
The patient’s gender, of course, influenced the outcome and treatment of the disease because she is a pregnant woman. This patient underlines numerous concerns imperative to pregnant women with compromised psychological, autonomic and bodily skill such as symptomatic HD patients. While involuntary actions are controllable, the patient’s trouble in swallowing signified fatal illness and substantial jeopardy for aspiration syndrome and mortality. Hence, recommending pregnancy cessation early in the pregnancy is rational. Although prenatal diagnosis is accessible, it is very debated, as cessation of pregnancy is infrequent because of the late, adult onset of the illness.
The difficult trials endured with the gastric tube dislodgments made enteral feeding tube the lone viable alternative throughout pregnancy. Augmented abdominal stress, gastric distortion in gestation, sphincter and muscular dysfunction accompanying with HD, likely added to the probability of aspiration and the unsuccessful tube positioning efforts.
Another obstacle was the patient’s incapacity to communicate well, particularly concerning uncomfortable contractions. Family sustenance was also important as they became knowledgeable on how to examine contractions and helped maintain daily life tasks like eating and moving. Physical therapy also played a role in optimizing the patient’s treatment.
While there is no straight connection amongst diabetes insipidus and Huntington’s, studies indicating reduced amounts of hypothalamic neuropeptides in model organisms of Huntington’s propose a link (Simpson, 2009). The incident of kidney inflammation could be connected to a number of things including the pregnancy, limited activity and physical dysfunction of HD, which produced a greater threat for bacteria contamination. The positive outcome of the case study patient’s pregnancy was likely made possible by the medical staff and familial support.
References
Hoskins, H. E. (2007, October 9). Pregnancy and active Huntington disease: A rare
combination. Retrieved February 13, 2016, from
http://www.nature.com/jp/journal/v28/n2/full/7211874a.html
Scneider, S. (2007, June 19). The Huntington's disease-like syndromes: What to consider
in patients with a negative Huntington's disease gene test. Retrieved February 13,
2016, fromhttp://www.nature.com/nrneurol/journal/v3/n9/full/ncpneuro0606.html
Simpson, S. (2009, April 12). Prenatal testing for Huntington's disease: Experience
within the UK 1994-1998. Retrieved February 13, 2016, from
http://www.nature.com/jp/journal/v28/n2/full/7211874a.html