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Points for Reflection

Before Patrick’s child was born, he was worried whether his child could inherit sickle cell disease from him. What type of information would you provide for a couple today in similar circumstances to Patrick and his wife?

Patrick talks about the psychological impact on his condition of worrying about it. He also talks about the difficulties of planning ahead. What other difficulties are associated with living with a long term condition such as Patrick’s? What support could you offer?

Activities

1. Go to the NHS National Genetics Education and Development Centre website and find the document ‘Taking and Drawing a Family History’. Sickle cell disease runs in Patrick’s family. Using this information and the information given in his story, draw Patrick’s family pedigree.

2. If Patrick’s wife had been a carrier, what would have been the chance of them having (a) an affected child and (b) a child who is a carrier of sickle cell disease? Click here to check your answers.

3. Go to the National Institutes of Health (National Heart, Lung and Blood Institute) online clinical guide to find out more about the management of sickle cell disease. This is a free 206-page book informed by US policy and practice, and chapter 10 (p59-74) specifically focuses on pain management.

4.Midwives need to collect information on family origins for all pregnant women by completing the Family Origin Questionnaire. Patrick was told that the chance of his wife carrying a baby with sickle cell disease is very low, as she is Welsh. People with family origins from which countries are considered at low risk for the condition? Click here to check your answers; low risk countries are listed on page 2.

Quotes

"They wanted to see the doctor and when they saw the doctor the doctor told them you all haven’t got the medical knowledge so we can’t explain."

"Oh when I found out that the child won’t be affected it was relief because I wouldn’t wish the sickle cell pain on my enemy."

"I was glad they didn’t have it because up to now I tell them don’t think you are going to be able to adjust to life if you all had sickle cell."

"The nurses, well they didn’t know nothing at all like. They just do what the doctor tells them you know."

Further information

The Sickle Cell Society UK website provides information for those with sickle cell disorders and their families and also has a guide for GPs and other health professionals

Your Genes, Your Health website

US National Library of Medicine, Genetics Home Reference website - sickle cell

NHS Choices sickle cell disease

NHS Evidence, genetic conditions - sickle cell disease

Brent (The North West London hospitals NHS Trust) Sickle Cell & thalassaemia Centre website:

Sickle cell for health professionals

Midwives focus on sickle cell

Inheritance of Haemoglobin

Management of People with Sickle Cell Disease

Patient UK website: Sickle Cell Disease and Sickle Cell Anaemia.

The NHS Sickle Cell and Thalassaemia Screening Programme website provides useful information about sickle cell disease, thalassaemia and other haemoglobin disorders, the various tests offered to people at different stages of life, and the development of screening and care for people with haemoglobin disorders. Below are some useful links on the site:

Standards for the linked antenatal and newborn screening programme

Screening for sickle cell and thalassaemia - knowledge updates

Translated information in other languages and formats

Leaflets and Factsheets

There are variations in antenatal screening policy across the UK. For example, in England and Scotland, screening for sickle cell disease in pregnancy is offered to all pregnant women irrespective of their family origin; however, in Wales it is only offered to women with a higher chance of carrying the condition. In Northern Ireland no such policy decision has been made yet. Go to the: UK National Screening Committee website for more information.

NHS Choice – Map of Medicine website provides useful information about sickle cell disease (SCD):

Management of acute complications

Primary care

Basic management and disease modification

Location: The Stories
Pain in the sun: Patrick’s story
Living with sickle cell disease, an autosomal recessive condition

Patrick tells us about his experience of living with sickle cell disease as a child in West Indies and later as an adult in the UK. The story shows how a genetic condition can have an impact on individuals, relatives, families and communities.

Read the story on screen

Print out the story (PDF)

Print out the toolkit

View and listen to story clips

Clinical signs of sickle cell

Understanding a crisis

Learning how to cope

Will my unborn child be affected

The pain of a sickle cell crisis

Testing of family members

Support services

   How does this story relate to professional practice?

We have linked this story to the Nursing Competences in Genetics (NCG) for nurses, midwives and health visitors. Further information on the competence frameworks can be found here

Patrick’s story outlines how the management of his condition has changed over the years, as knowledge and understanding about this condition has gradually improved. Until he saw a genetics specialist, his treatment was highly dependent on the answers of health professionals about sickle cell disease (NCG 4). Indeed, in the earl years, Patrick’s treatment seems to have been completely contradictory to current management.

The lack of awareness amongst health professionals also resulted in Patrick encountering judgemental attitudes both when seeking treatment and in relation to reproductive choices; this story therefore illustrates the importance of realising the limitations of one’s knowledge (NCG 6), treating patients with sensitivity (NCG 2) and in supporting decision-making (NCG 3).

A turning point for Patrick came when he encountered a clinician who recognised his condition and Patrick was referred to genetics services (NCG 1). His episodes of painful crises were then managed appropriately.

Patrick clearly felt strongly about not wanting "to bring a child into this world that is going to suffer the way I suffer with the sickle cell." He wanted genetic information about his baby but it seems some of the health professionals he encountered did not appreciate how important this was for Patrick (NCG 5).

Content relating to the learning outcomes in genetics for General Practitioners will appear here shortly.

Content relating to the learning outcomes in genetics for medical students will appear here shortly.

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