A story from Linda, a mother of two children with ectodermal dysplasia.
Linda is a mother of five children, two of whom are affected by ectodermal dysplasia (ED), a group of genetic disorders affecting the development or function of the teeth, hair, nails and sweat glands. In this story, she tells us about how ED has an impact on her whole family, not just the two children with the condition. She also talks about the common symptoms of ED and her involvement with the Ectodermal Dysplasia Society.
Point for reflection
What practical support might you be able to offer to Linda’s unaffected children?
- Two of five Linda’s children are affected by ED. Could you think of any emotional needs that her unaffected children may have and how you might be ale to help support them with these?
- Go to the US National Library of Medicine, Genetics Home Reference - Hypohidrotic ectodermal dysplasia website: http://www.ghr.nlm.nih.gov/condition=hypohidroticectodermaldysplasia
- What are the inheritance patterns associated with ED?
- Which is the most common one?
- Find out how skin structure and function can be affected in ED?
- What might be implications for oral health in someone affected by ED?
Quotes to reflect upon
The GP, nurses and health visitors knew nothing at all about ED
"ED has an impact on the whole family, not just those who have it"
"To date, there is still very little information available for the lay reader, but plenty for professionals"
- Ectodermal Dysplasia society - http://www.ectodermaldysplasia.org/
- Ectodermal Dysplasia - international network - http://www.edsinfo.org/
- US National Library of Medicine, Genetics Home Reference website - Hypohidrotic Ectodermal Dysplasia - http://www.ghr.nlm.nih.gov/condition=hypohidroticectodermaldysplasia
- Gene Reviews - Ectodermal Dysplasia - http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=x-hed
- National Foundation for Ectodermal Dysplasias - http://nfed.org/
- National Institutes of Health, Medline Plus - Ectodermal Dysplasia - http://www.nlm.nih.gov/medlineplus/ency/article/001469.htm
- Contact a Family - Ectodermal Dysplasia - http://www.cafamily.org.uk/Direct/e14.html
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]
Clinical features of ectodermal dysplasia may be apparent at birth or occur in the early years of a child’s life. Linda feels that families can benefit from an early diagnosis if healthcare professionals are able to recognise features and symptoms of this condition and know how to refer to genetic services and support groups, as the dentist did in this case (NCG 1). Linda now runs the Ectodermal Dysplasia Society, a patient support group, where she received lots of support initially.
Linda says that the GPs, nurses and health visitors knew little about ED and found that the information given was insufficient when her first son was diagnosed. She indicates the need for health professionals to recognise the limits of their genetic knowledge (NCG 6), and to know where to obtain accurate information for themselves and for clients (NCG 7). An understanding of the role of genetics that can play in a condition is also highlighted (NCG 4).
Having had one son with ED, the family acquired knowledge and experience of the condition and when their next son was born, they recognised the signs of ED immediately and were able use their expertise, saying "the road this time was a lot easier, we knew more about ED, we knew how to care for a child with ED". This reminds us of the need for healthcare professionals to recognise the expertise of individuals and families that develops over time and with experience (NCG 8).
Content relating to the midwifery competencies in genetics will appear here shortly.
Learning Outcomes for GPs
Content relating to the learning outcomes in genetics for General Practitioners will appear here shortly.
Learning Outcomes for Medical Students
Content relating to the learning outcomes in genetics for medical students will appear here shortly.