Question

A four yo male has been diagnosed with Duchenne Muscular Dystrophy (DMD). His diagnosis is confirmed by genetic testing. Duchenne Muscular Dystrophy is a severe, debilitating and progressive muscle wasting disease in which children become wheelchair-bound by their early teens and usually die in their twenties. Duchenne Muscular Dystrophy is an x-linked recessive genetic condition and whilst it is carried by girls it is only (with very rare exceptions) boys who are affected.

The boy’s mother, Alison, is shown to be a carrier for the mutation. Carrier women do not show symptoms of the condition, but half of their sons will inherit it from them and will be affected. Alison has a sister, Sue, who is ten weeks pregnant and who has just been scanned by a colleague in the same center as Alison had. At her first meeting, Sue told her clinician about her nephew’s speech and development delay, but said she was not aware of any diagnostic label. She said she was anxious about the implications of this for her and her pregnancy and also said, later in the discussion, that she would terminate a pregnancy known to be affected with a life threatening condition. Speech and development delay are features of a wide range of conditions and would not of themselves indicate carrier testing for DMD. In addition, because the DMD gene is large and there are a number of possible mutations, testing without information about which mutation is responsible for the nephew’s condition is unlikely to be informative.

Alison knows that Sue is pregnant and that the pregnancy could be affected but she has not told Sue of her son’s diagnosis, or about her own carrier status, since she feels that if she tells her sister, Sue would be likely to terminate the pregnancy if it turned out to be affected. Alison feels that this would be wrong. She knows that her sister does not share her views but she has thought long and hard about the issues. She has discussed it with her family doctor and her geneticist and has decided she wants the results to remain confidential and not to be disclosed to any third party, including her sister.

Both women are patients of the regional genetics service. At the regular team meeting, clinicians and counselors say they feel they have a duty of care to both of the sisters. To tell Sue would be to breach Alison’s confidentiality. But, Sue has a one in four chance (without her carrier status being confirmed) of having an affected child. A genetic test would allow Sue to make a more informed reproductive choice.

How the Registered Nurse Might Be Involved In the Case Study

your reflection of the case study

Answer 1

The Registered Nurse can be involved in the case study in the following way

• By educating about the importance of genetic testing to the pregnant women when an expected genetic disease is actively running in the family though her chance is low .
• The RN can be involved in preparation of the patient

The reflection of the case study is, it describes a hereditary or genetic disease named Duchenne Muscular Dystrophy which makes a child wheelchair bound by teenage and death in twenties .Also the importance of maintaining confidentiality of patient information. At the same time being non maleficience to others by intentionally or non intentionally harming a client or an unborn fetus.