I once had a patient in the nursing home who had Huntington’s Disease and I watched as she progressed from a standby assist to sleeping in an adult sized crib so she didn’t fall out of bed from thrashing around and hurt herself. Her son came every day when she was first there and helped her eat her breakfast and supper. These were the early days of genetic testing and eventually he was tested only to find out that he would suffer the same fate. He continued to stand by his mom’s side until her final days, but you could see that after he knew he struggled with his own emotions on an even deeper level.

As a genetic counseling nurse approached a couple wanting to have children knowing that they were both carriers for a genetic disorder we would need to explore a lot of things. The first thing I would explore is if each carrier was a dominant or recessive carrier and the probabilities of the child developing the illness based upon the parent’s genetic status. I would also explore what the parents know about the illness. I would discuss the implications of potentially having a baby with a serious medical condition that requires constant medical attention. I would advise that they also reach out to a genetic specialist in the field of the illness. Finally I would recommend they seek online support groups. I believe it to be helpful to talk to others who can relate directly to your experience and can not only empathize but sympathize.

References

Edens-Hurst A. (2018). Prenatal Genetic Counseling. Medline Plus, US National Library of Medicine. Retrieved from: https://medlineplus.gov/ency/patientinstructions/0…

Kaakinen, J.R., Coehlo, D.P., Steele, R., & Robinson, M. (2018). Family health care nursing: Theory, practice and research (6th ed.). Philadelphia, PA: F.A. Davis Company.