Infancy Case Studies

(links to other case studies can be found at the bottom of this page.)

1. JOE

Joe, a nine-month-old baby, attended the Accident and Emergency Department with his parents after they noticed that he was not moving his left leg. After X-rays were performed a diagnosis of a fractured femur was made. The nurse admitting Joe was concerned that the parents did not seem to be able to explain the reason for his injuries. They said they found him like this in his baby walker. The nurse discussed her concerns with the senior nurse and the casualty doctor, as she was afraid that this injury might have been as a result of non-accidental injury.

Further questioning of the parents revealed that Joe’s father had broken bones on many occasions during his childhood. He stated that his sister had also had the same problem and a doctor suggested that they might have had brittle bones. A geneticist never saw them and as they became older the incidence of fractures became less. On checking Joe’s hospital notes it was found that he had been referred to the Clinical Genetics Department and they were able to confirm that this was the case.

How might the nurses, reponses have been changed if she had considered the possibility of a genetic influence for the problem? What information sources might she seek to enhance her knowledge?

2. CHLOE.

Melanie and Dan have a baby called Chloe, with serious congenital problems, both physical and mental. The family are seen by the Genetics Service and told that she has a genetic problem caused by unbalanced chromosome arrangement and the outlook for the baby is very poor. Chloe may not survive, and even if she does she will need a lifetime of care. They are very upset and guilty, feeling it was their fault. They ask their Health Visitor and doctor to ‘keep everything very confidential’ as they live in a small village where everyone knows everyone else, and they can’t bear to be gossiped about. They are reassured about the requirement of all healthcare professionals to maintain confidentiality.

Four months later Dan’s (Julie) sister phones the genetic service. She doesn’t know you have seen the baby. She says her brother has had a severely retarded baby, and she is scared that she might have one too. She asks your advice.

You go back to the original family and ask whether they have told others in the family about the potential risk of having a child with an abnormality. They say they have not told anyone it is a genetic problem, they have fallen out with Dan’s family and don’t have much contact with them. You ask if they will give permission for you to contact famliy members to give them information and they will not give permission for Chloe’s diagnosis to be discussed.

Dan’s sister may be at risk of having a child with similar problems to Chloe. The fetus could be tested in a pregnancy using an invasive test that carries a risk of miscarriage.

3. ELLIE.

Ellie is a baby of 3 months, admitted to the paediatric ward with failure to thrive. Ellie’s mother reports that her stools have been very smelly since birth, and Ellie is not a contented baby. She has required antibiotics for a chest infection on two occasions Ellie is diagnosed with cystic fibrosis after having a sweat test. The physiotherapist calls to see Ellie on the ward. She starts to teach Ellie’s mother how to give Ellie her chest physiotherapy. The mother breaks down and asks if there is any chance she could have more children with the condition.