Is it a painful inheritance?

What are you asked when you attend for your clinic appointments? “How is it going?” “How are you?”
Yes, me too, and I think the expected answer is “Fine, thanks” or “Good”
Aware of the doctor’s “precious time” and perhaps swayed by the fact he is a physician and not a psychiatrist, I rarely say more and certainly don’t want to be seen as “complaining”. It seems I have a need to be a compliant patient that obscures any chance that I might say-it-as-it-is or open the Pandora’s Box of what it is actually like to have ADPKD.

Fire sponge: a painful encounter (note the similarity with a cystic kidney)

Fire sponge: a painful encounter (note the similarity with a cystic kidney)

And what is it actually like?
A paper published earlier this year,  entitled “A painful inheritance —patient perspectives on living with polycystic kidney disease: thematic synthesis of qualitative research”,  attempted to identify recurrent themes in previous studies that have touched on the psychological burden of having ADPKD. This is my condensed version of that paper with the addition of my own opinion which should not be considered as academic commentary.

Firstly the authors are experienced at undertaking thematic synthesis, having produced similar papers covering chronic conditions such as SLE, cystic fibrosis and other chronic kidney diseases. This lends a degree of validity to their methods and paper.

To go back to the basics, quantitative research looks at figures and measurements and qualitative research looks more at the descriptive elements. A study of patients’ attitudes would be qualitative research, while a study of patients’ blood pressure is quantitative. Thematic analysis is a way of identifying patterns across data sets used for “soft” data such as that obtained in qualitative research. There are different terms in use (thematic synthesis, thematic discourse) that will have specific meanings for the experts in the field, but the essence is that they have tried to extract the common ideas from within a set of studies and bring them together in a useful manner.

So the group have done a comprehensive search for qualitative studies on living with polycystic kidney disease, with the parameters ‘written in English’ and ‘published in a peer-reviewed journal or doctoral dissertation’. In this way they have eliminated poorer quality studies, but have also limited the value of the findings since they have only considered English speaking and high income countries.

They have used a validated search database to analyse the text of the papers and the quotes from patients. Rather like a word cloud, this process highlights common repeated themes which the researchers have then used to identify conceptual links.

For example, the recurrent themes “medical trivialisation of pain” and “inadequate pain relief” have been grouped into an overarching concept of “unvalidated pain”.

Finally they have selected the five most prominent themes:

  • unvalidated pain: trivialisation of pain, insufficient medication
  • persisting uncertainty and ambiguity:disempowered self-care, unpredictability, lack of diagnostic clarity
  • genetic guilt and resentment: blame parents, self-blame, guilt
  • precariousness in pursuing parenthood: uncertain prognosis, making the decision
  • defining responsibilities with respect to genetic testing: child autonomy, necessity of tests, preserving normality

As with any paper, this is structured with sections on background, methods, results and conclusion. In the background section they refer to a paper from 2014 that poses the question: Do we underestimate the physical and emotional impact of early stage ADPKD?

Clearly the hypothesis of the paper “A painful inheritance” is that it is underestimated.
The results seem to align with the “nobody understands” viewpoint, but I want to make some observations.

  1. First, the number of patients with ADPKD included in this analysis is small: just 247 patients from just 21 studies. I belong to a support group on Facebook for PKD that has over 4,600 members. While I accept that some of these will be partners or relatives, the majority are patients and my understanding of the burden of the illness has grown in a logarithmic fashion since I joined. So analysis of less than 250 patients, in perspective, is looking rather like the proverbial pinch of salt.
  2. Secondly, some of the 21 studies were in fact single-patient case studies. These are valid and have their place in educating doctors but are less useful for planning service changes, yet the authors of this paper do make suggestions for making such changes based on their results.

I am a little bothered by the didactic terms used in the final paragraph, where the implication is that ALL PKD patients are socially limited by their illness to the extent that they cannot “establish and pursue their long-term life goals”. A fairer conclusion would be that PKD CAN affect patients in this way, not that it is inevitable.

There are parts of this study that I like very much – that it points to a need for increasing patient-centredness, for more shared decision-making between patients and health care teams. The authors emphasise that to understand a patient and offer the best advice then the doctor needs to know something of the patient’s beliefs and attitudes, to ask them about their experiences and learn what they value. This IS taught in medical school, we are not all doing time on the job as a path to the golf course, but in the pressures of a clinic then it might need more than a simple “How are things?” to elicit useful information about the patient’s perspective.

It appears requisite to conclude in any scientific paper that “further research is suggested” and we are not disappointed as we finish the discussion section – the mentioned knowledge gaps are as large and numerous as an individual patient’s cysts. The trouble with a qualitative approach can be that it generates fluffy sentences, or phrases such as “the development and evaluation of interventions that align with patient values” – I just lean back in my chair and say “what exactly does this mean?’ I am sure it will mean something to someone.

So do I concur with the slant of this paper? (verbosity is catching)
Going back to the five themes: I have not, as yet, had unvalidated or untreated pain or anyone suggesting I am exaggerating; I am bothered often by the uncertain outcome and that I do not know which genetic mutation I carry; I do not hold any resentment or guilt, though when I have been depressed in the past have focussed a little on self-blame; my diagnosis did not have any bearing on our decision to have a family but I did struggle with the decision “test or not” for the children.

As for “preserving normality” – nothing about me is normal and my family are certainly following in my footsteps there, but that’s not in the slightest related to PKD!

Paper reviewed: 

A painful inheritance—patient perspectives on living with polycystic kidney disease: thematic synthesis of qualitative research
Nephrol. Dial. Transplant. (2015) 30 (5): 790-800 first published online January 29, 2015 doi:10.1093/ndt/gfv010

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