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Points for Reflection

1. Really there are two issues here that Veronica has to cope with. First she has to come to terms with knowing that she passed on the gene change to her son. Secondly, she has to deal with the implications for her own health which she describes as ‘a huge black cloud hanging over my head.’ The potential outcome is a potent mix of emotions including grief, guilt and anxiety. What can health professionals do to help people like Veronica and her husband?

2. Once in hospital, and with the condition diagnosed, the client’s parents found that the staff did not know enough about adrenoleukodystrophy (ALD) to help manage the condition correctly. Consider how you would approach the care of a client who has a condition that you have not dealt with before. Would you know where to go to for creditable information? Consider whether you would know how, and to whom, you should make a referral, if appropriate.

3. Veronica’s experience may have been helped if she had felt that the health professionals had been able to anticipate problems and react quickly when faced with a condition they had little experience of. Think about how you would prepare yourself and colleagues to care for the patient. In light of this story is there anything you would do differently?

Activities

1. The parents in this story were affected by the way in which the diagnosis was given to them both in terms of how they were told and who was present.

-Find out if there any guidelines for delivering bad news that exist locally (i.e. within your Trust) or are defined by your professional body.

- Role play giving news of a new, unexpected diagnosis which can often be life-threatening, with a colleague. Discuss how you could prepare parents in some way before breaking the news to them.

2. Identify the steps you and your colleagues would take to ensure that pain and muscle relaxant management was effective.

3. ALD is an X-lined condition. List the features associated with this type of inheritance pattern. What are the possible combinations of sex chromosomes that could be passed on by a carrier female and unaffected male? You may find it helpful to use a diagram or punet square. You might find it helpful to refer to the NHS Evidence website for a summary of inheritance patterns (http://www.library.nhs.uk/geneticconditions/viewresource.aspx?resID=126544&tabID=290&catID=7827) or to the InnovAIT article (http://www.geneticseducation.nhs.uk/learning/downloads/Recognizing_the%20common_patterns_of_inheritance_in_families.pdf) on recognising the common patterns of inheritance in families in a primary care setting.

Quotes

"Medical schools need to spend more time teaching students how to break bad news in a sensitive way. Many of the medical professionals (particularly consultants and registrars) we encountered were arrogant and unsympathetic - they need to realise that they are not ‘God’".

"I’m not going to beat around the bush - it’s terminal". After that everything was a blur." "My husband went to pick my son up (he’d been playing football with one of the physiotherapists) and was asked to measure him up for a wheelchair when we got home."

Further information

ALDLife

InnovAIT article: Recognising the common patterns of inheritance in families in a primary care setting.

NIH GeneReviews - ALD

Lorenzo’s Oil(1992)

US National Library of Medicine, Genetics Home Reference website - X-linked adrenoleukodystrophy

PULSE - Informing, Supporting, Championing - A discussion forum for UK GP’s, junior doctors and medical students


Location: The Stories
Transcript

You can download the full transcript here

The loss of a much loved son: Veronica’s story
A mother’s account of dealing with a diagnosis of adrenoleukodystrophy, an X-linked condition

We started to notice a change in my son’s behaviour in the Spring of 2004 - Daniel, who was six at the time, appeared not to be hearing well. This got worse and worse and was accompanied by some other subtle changes and in September 2004 he saw the educational psychologist at school who was very concerned about certain areas of his comprehension. A brain scan in October 2004 revealed that Daniel was suffering from a rare degenerative genetic condition called adrenoleukodystrophy (ALD). Over the next six months he lost the ability to move, talk, and eat. In July 2005, at the age of 8 and just 9 months after the initial diagnosis, Daniel contracted pneumonia and died.

My life has obviously changed completely as I have lost a much loved son. I have also been confirmed as a carrier and this has implications on my own health. The ‘worst case scenario’ is that I end up in a wheelchair. This is like a huge black cloud hanging over my head and if I suffer from any unusual physical symptoms I worry that the condition is starting to take hold on my health.

The care we received from the NHS was largely poor. After the initial diagnosis we were given a considerable amount of mis-information by an inexperienced and yet overly confident registrar. The consultant at the initial department we were seen by took seven weeks to actually see us after the diagnosis. We were then offered an appointment four months from when my son had last been seen at that hospital. We then transferred my son’s care to another hospital where the staff were very much more sympathetic. However, they had little experience of the condition and were not able to anticipate problems or react quickly enough when they occurred. For the last three months of his life my son was in considerable pain. It transpired that his stomach was in a very poor condition as he had been taking daily doses of hydrocortisone. His body was also permanently rigid and his prescribed muscle relaxants did not appear to work. Neither of these problems was resolved and the last couple of months of my son’s life were very difficult for both him and us.

The experience I most remember was being told of the diagnosis. This was done in a very insensitive way by a registrar who was clearly lacked enough experience of breaking bad news. Four people from the hospital attended the meeting (two of whom we had never met) so we felt that we were being observed. The registrar gave us the good news (that the EEG had been normal) first, and then told us that the bad news was that my son’s brain had suffered degeneration. I can remember his exact words - "I’m not going to beat around the bush - it’s terminal". After that everything was a blur. My husband went to pick my son up (he’d been playing football with one of the physiotherapists) and was asked to measure him up for a wheelchair when we got home.

The care the NHS provided could have been improved in various ways. The NHS should appoint one consultant to specialise in rare conditions like this - this person should be available for parents and other professionals for advice and support. Medical schools need to spend more time teaching students how to break bad news in a sensitive way. Many of the medical professionals (particularly consultants and registrars) we encountered were arrogant and unsympathetic - they need to realise that they are not ‘God’.