Child & Adolescent Case Studies

(links to other cases at bottom of this page)

1. JASMINE

Jasmine is a five-year-old girl who attends the local primary school. She is seeing the school nurse with her mother because she has increased in weight considerably and her mother is concerned about this. Her mother says she is always hungry and searching for food.

At birth Jasmine was small and difficult to feed. Her development was slow and she reached her developmental milestones late. Her speech was also delayed. She attended a special nursery where she was given extra help and regular speech therapy. She progressed well and was therefore able to attend a mainstream primary school.

Her mother told the school nurse that at a recent appointment with the paediatrician she had been told that a blood test had revealed that Jasmine had a condition called Prader-Willi Syndrome. Although the syndrome was explained to the parents she did not take in what the doctor had told them.

The mother asked the nurse what this syndrome might mean for Jasmine for the future. She also told her that she and her husband wanted to have another baby and they wanted to know if it could also have this condition.

The school nurse said that she had never heard of Prader-Willi syndrome but she would try to find out more information for them.

2. JANIE.

Janie is only 14 years old, but she knows what it means to lose someone you love. Two years ago Janie’s big brother Justin died from Duchenne muscular dystrophy (DMD). Justin had been in a wheelchair as long as Janie could remember. She didn’t say so, but she loved him more than her other brother Gary, who was too busy going out with his mates to pay much attention to her. Justin always had time and they would play music as she danced around the living room while he played his ‘air guitar’.

When Justin died Janie’s world fell apart. She couldn’t talk to her parents about how she felt. They were so upset and she didn’t want to make it worse for them. Gary went out even more than before. The house was too quiet. There had been so many visitors when Justin was alive……paediatric home nurse, social worker, carer support, but now there was no reason for them to call.

Janie’s class tutor became concerned about her and asked the school nurse to have a word. It was then that Janie told her about Justin and how she didn’t feel she could ever risk having a baby. The school nurse said ‘ It’s a bit early to be thinking about that!’

When Janie was next seen at her GP surgery for her meningitis jab, the health visitor recognised her as Justin’s sister. When she asked how the family was getting on, Janie became upset and the health visitor made an appointment to talk to her when she had more time. She was aware that DMD could be carried by female family members, and referred Janie for genetic counselling to talk about the risks to her own children.

Although Janie was only 14 years old, she understood the effects of the disease and what testing meant. She was tested to see if she was a carrier for DMD and to her relief she was not. This meant her own children could not inherit the condition.

Although Janie’s children are not at risk, her little sister Helen has not been tested and could be a carrier. Janie worries for her and will not be able to relax unless she finds out eventually that there is no risk of any other member of her family having the disease.

4. JAMES.

James is having careers advice at school. He is keen to be a driving instructor, but is a bit concerned because his mother wears strong glasses and has been told she shouldn’t drive. Her brother is the same. The careers teacher asks the school nurse if James needs an eye test.