Stephen

Stephen is 28 years old. He is becoming more and more concerned about his increasing muscle weakness. He shares his anxieties privately with his GP who refers him to the hospital for further tests. These confirm that Stephen is suffering from Myotonic Dystrophy. This means that over the years his muscles will weaken and he may have other physical and mental symptoms. However, his consultant assures him that at least for the time being, this condition should not affect his life too much. Myotonic Dystrophy is a disease that is inherited. This means that one of Stephen's parents must carry the defective gene that is causing the disease. It could mean that many other members of the wider family could be affected. Even if their own condition is mild, they could pass it on to their children in a very severe and even fatal form.  Stephen’s physician advises that he tell his family about their risk of MD, but Stephen claims that this information is private and he does not want to tell his family.  Stephen and his wife are also planning to have children, but Stephen is afraid that his wife, who has always dreamed of having children, will leave him if she finds out about the disease. Stephen’s physician is unsure if he has the right to tell Stephen’s family and wife about his condition.

-->

*http://prs.heacademy.ac.uk/view.html/prsdocuments/52