A mother shares her story of the death of her son from Brugada syndrome and the impact on her and the family. She relates how she had to fight for any answers and the inequity the family experienced regarding access to services in Wales and England. As well, the role of the police officers, coroners and pathologists is discussed as being crucial to help provide evidence of this condition.
Point for reflection
- This story highlights the need for police officers, coroners and pathologists to have a level of awareness and sensitivity when faced with adults who die suddenly, with no apparent cause. How are you able to use this story to inform your own care of families in this situation?
- Geraint’s mother felt there were a number of health problems that were unusual in her family. Families are often the first to perceive a pattern of differences that is consistent with a genetic diagnosis. How should a person with these types of concerns be treated by health professionals?
- What has been your experience of sudden adult death syndrome families?
- With colleagues, role-play a situation where a mother comes to you to discuss the sudden death of a child and her concerns for her other children. In particular, what do you learn when you take the part of the mother?
- If you were contacted by Geraint’s mother, would you be able to inform her about your local genetics service? Use the British Society for Human Genetics website (or other national genetics organisation website outside the UK) to locate the service that covers your own area.
Quotes to reflect upon
"Can someone die of "nothing" for no reason at all?"
"..people who have not experienced Sudden Adult Death Syndrome would not appreciate how hard it is to lose a child or any family member and be expected to accept that they died of nothing. There must be a reason for death but people should be helped, not have to fight and struggle as I did."
"I knew I had to get on with my life, but I just could not except that Geraint had died of nothing. I just did not know which way to turn. Every avenue I went down was a dead end."
"He told me quite bluntly that if I went down the road of looking for things for my family to have I was likely to end up having Munchausen’s by proxy. His advice to me was to accept my son was dead, go home and get on with my life."
- SADS UK, Ashley Jolly Sudden Adult Death Syndrome Trust - http://www.sadsuk.org/
- British Heart Foundation - http://www.bhf.org.uk/
- British Society for Human Genetics: the contact details of all regional genetic centres for the UK are listed on this site - http://www.bshg.org.uk/genetic_centres/uk_genetic_centres.htm
- EuroGentest (http://www.eurogentest.org) is an EU-funded Network of Excellence with 5 Units looking at all aspects of genetic testing - Quality Management, Information Databases, Public Health, New Technologies and Education.
- CRY (Cardiac Risk in the Young) website (http://www.c-r-y.org.uk/my_story.htm) - includes a stories section containing personal accounts of loss due to young sudden cardiac death and young people’s stories about living with rare heart conditions.
- Arrhythmia Alliance - The Heart Rhythm Charity - http://www.heartrhythmcharity.org.uk/
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]
None of the health professionals was alerted to the fact that there could be a genetic condition in the family and as such, failed to recognise that the family would have benefited from genetic services and information earlier, rather than later, after attempting to access many different professionals for an explanation of his death (NCG 1).
Genetic information has been useful for the family as it has allowed other family members to be tested (NCG 5). As a result, various treatment options have been started and a monitoring process can be put into place.
Content relating to the midwifery competencies in genetics will appear here shortly.
Learning Outcomes for GPs
We have linked this story to the learning outcomes for GPs listed in the Royal College of General Practitioners Curriculum Statement 6 ‘Genetics in Primary Care’, which describes the knowledge, skills and attitudes that a GP requires when relating to patients and families with genetic conditions. Further information on these learning outcomes can be found at: www.rcgp-curriculum.org.uk/PDF/curr_6_Genetics_in_Primary_Care.pdf
Geraint’s mother struggled to obtain any specialist help or information to help ascertain the cause of her son’s death. From her own research, she suspected the cause to be Long QT syndrome and was advised to see her GP to request testing. Her GP disregarded the possible signs that might have indicated a familial condition and dealt with the consultation in a very insensitive way. Cardiac genetics is a rapidly evolving area and the GP might have been able to help her in her search for a diagnosis by keeping up-to-date with advances (GP-9) and knowing where to obtain specialist help and advice (GP-8a).
Geraint’s mother had to try and identify someone with genetics knowledge who could help her. Until the family finally had a consultation with a genetic nurse, none of the health professionals they encountered, including the GP, enquired about family history or considered the possibility of a genetic condition in the family (GP-1b; GP-1c). Once a genetic condition was suspected, the family should have been referred to the appropriate genetics services (GP-1g).
Once a diagnosis of Brugada syndrome had been ascertained, the family were offered testing. Geraint’s father and sister were found to be affected and the appropriate treatment was offered. Whilst his sister chose to have an ICD fitted, his father declined the treatment. The grandchildren were also tested and found to be unaffected. This aspect of the story not only highlights the different views towards the management of genetic conditions individuals can have, but also reminds us of some of the ethical issues surrounding the management of genetic conditions including testing of children (GP-8b).
Learning Outcomes for Medical Students
Content relating to the learning outcomes in genetics for medical students will appear here shortly.