Adult 1 Case Studies

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

1.BOB & CAROL

Bob and Carol are a couple with 2 teenage children (Sarah, aged 18years and Mark, aged 16 years). Bob and Carol found out 18 months ago that Bob’s father had been diagnosed with Huntington’s disease at the age of 62 years. This was a complete shock, neither partner had known about this. Bob had never heard of Huntington’s disease although Carol had seen a television program about a family with the condition and knew it was ’pretty grim’.

The couple have searched the Internet and find out that a genetic test is available. Bob asks his GP about it and he is referred to the genetic service.

At their appointment, it is clear that Carol is very angry at the secrecy that has surrounded the diagnosis in Bob’s family. She feels cheated of their future together. Bob is desperately worried about the children and feels guilty that he may have passed on HD to them.

The genetic counsellor discusses the test and their feelings about all that has happened. She is concerned that the request for a test is based on Bob wanting to make it ‘all go away’. He is naturally hoping for a good news result, but is not able to face the implications of bad news for himself and his family. Carol says they have not yet told the children because they hope it will ‘not be necessary’.

The counsellor discusses with the family the need to consider all implications of testing. They speak about the benefits and diasadvantages of telling the children before Bob is tested. They agree to meet again in a month for more discussion, in accordance with UK guidelines for HD predictive testing.

At the next visit, the couple state at the next visit they want to proceed with testing. After further discussion it is arranged to meet again a month later and that blood will be taken for the test at that appointment.

At the result session 3 weeks after the blood is taken, Bob receives the news that he has inherited the gene mutation that causes Huntington’s disease. His response is one of disbelief. He and his wife decide to tell the children in a few months when they have finished their exams.

One year later, they have still not found the right time to give their children the news.

2. CATHY

Cathy is a 46 year old woman. She is divorced, and has two daughters aged 17 and 19, and a son who is 23 years old.

Cathy makes an appointment with her GP. When she enters the room, she bursts into tears. Her sister Marie has been diagnosed with breast cancer. Cathy is very upset about Marie, but is also terrified of getting cancer herself. Her mother and father died from it and now Marie is also ill she feels it is only a matter of time before she goes ‘the same way as Mum’.

Cathy’s GP refers her to the genetic service. She is asked about her family history and gives the following information:

Her mother, Gayle, was diagnosed with bowel cancer at the age of 63 years and died from liver metastases at 65 years. Cathy says her mother knew something was wrong for a while but put off going to the doctor, ‘she was such a private person’. Cathy was 23 when her mother died.

Cathy’s father, Bill, died of lung cancer at 57 years, having been a heavy smoker all his life.

Cathy was the youngest of five children.

Her sister Marie is 53 years and her breast cancer was detected through the breast cancer screening program. She is now having chemotherapy following a lumpectomy.

Cathy has two other sisters and a brother, all of whom are well.

Cathy’s mother was an only child, but her father came from a large family. One of his brothers also died from lung cancer at 72 years, and a sister had breast cancer at 69 years.

All of Cathy’s grandparents lived beyond their 60’s and none are known to have had cancer.

The cancer diagnoses in Cathy’s parents are checked and confirmed through the cancer registry, this requires their full names and dates of birth and death. Marie is asked for her consent to check her medical records, and her diagnosis of breast cancer is also confirmed.

Cancer is a common condition, particularly of old age. Most forms of cancer are not due to an inherited tendency. Clues that an inherited gene mutation is increasing the predispostion to cancer in the family are:

• the same type of cancer occurs frequently in the family
• family members are affected at an earlier age than is usual for that type of cancer
• there is evidence of people with a gene fault being passed from one generation to the next.

The genetic nurse discusses the family history with Cathy and explains that she is not at high familial risk of developing cancer. This is because:

• her father’s lung cancer (and his brother’s) is most likely to be due to environmental influence of smoking.
• her mother was not diagnosed with colon cancer till her 60’s, and this is therefore unlikely to be due to an inherited gene fault
• her sister was not diagnosed with breast cancer till she was 53 years. A single case of breast cancer in a first degree relative does not significantly increase the risk of other family members unless the relative is diagnosed before the age of 40 years.

Cathy listens to the explanation, and says she understands but is still worried. The genetic nurse talks to her about her background, and learns that Cathy is afraid of leaving her children alone, just as she feels she was left when her mother died. They discuss the ‘normality’ of these thoughts and the nurse makes a further appointment with Cathy for follow-up. She also refers Cathy back to the practice to learn breast self-examination as Cathy says she is not confident about doing it. .

Three months later Cathy is a little more positive. Her sister is doing well and the practice nurse in the GP surgery had shown Cathy how to examine her own breasts properly. She says the explanation about her risk was helpful, but it is hard to shrug off the fear of decades.

3. DENNIS

Dennis is a frightened young man. At 27, he knows about the family history of bowel cancer. His 4 sisters urge him to have a screening colonoscopy but he can’t bring himself to go through with it.

Dennis’s father, John, died from metastatic colon cancer at the age of 47 years. Dennis and the other children watched him die in terrible pain; he refused to go to hospital or even have the district nurse call in to give him painkillers. John had been suffering for year, his children knew all too well the sight of blood around the toilet bowl, but it was not until he had a bowel obstruction that John was taken to hospital, to have a colectomy and colostomy. The ‘bag’ was a badly-kept family secret.

Dennis has been passing blood from the rectum for years, but also refuses treatment on the grounds that his father died after having the operation. Other members of the family have been diagnosed with multiple bowel polyps, a condition known as Familial Adenomatous Polyposis (FAP), and rectal bleeding is a sign of that condition. If the polyps are not removed, cancer of the bowel is almost inevitable. Dennis has a sister who has already had surgery to remove her large bowel and she feels it has saved her life.

The GP, practice nurse, genetic nurse and his family all try to persuade Dennis to have a colonoscopy. He agrees, but does not attend the appointments.

Dennis and his girlfriend decide to start a family. They have a daughter, and Dennis is so concerned to be around to bring her up, he goes for his colonoscopy. Heavy sedation helps him get through it, but afterwards he is told he already has a tumour, as well as hundreds of polyps. Surgery is urgently required.

The outlook is not good, but amazingly Dennis does very well and 3 years later is offering to talk to other families about the benefits of having screening. He is determined his own daughter will not have the same fear, and regularly shows off his stoma and ‘bag’.