My first encounter with myalgic encephalomyelitis (ME), also known as chronic fatigue syndrome (CFS), was through my flat mate when I moved to London in 2015.
Having worked in the biomedical field for 15+ years, I had not heard about the disease before meeting Sarah (not her real name), then in her late 40s. I could not help myself but raise a doubtful brow when she first told me about her decade-long struggle with both, the disease, and the medical care (or lack thereof). The combination of symptoms, from outright exhaustion and brain fog to intricate food-intolerances seemed bewildering and skittish to me. However, witnessing one of Sarah's relapse crises, made my scepticism vanish promptly. In fact, seeing her collapse and shake, then recover her senses slowly but not being able to stand or walk by herself for hours, was scary, to say the least.
Indeed, the clinical understanding of ME/CFS is vast and at times confusing, as symptoms and disease progression vary greatly between patients. Profound fatigue and inability to cope with physical and/or mental effort are at its core. Chronic pain, recurrent infections, low mood, and cognitive impairment are also common. The causes behind the illness are equally mysterious, although a previous episode of viral or bacterial infection has been linked to at least a subset of cases. Not surprisingly, there are parallels to be drawn between ME/CFS and the emerging picture of long COVID, as they share several key symptoms.
Not only is ME/CFS a devastating disease, but patients are left painfully alone with it.
The Genetics Podcast, hosted by Dr Patrick Short, brings this message across with power and dignity. This episode has the format of a round-table with three founding members of DecodeME, a project led by Professor Chris Ponting from the University of Edinburgh. Professor Ponting's team has secured funding for the first large scale genome-wide association study (GWAS) into ME/CFS and recruited 25,000 participants to identify gene-variants linked to the disease. Sonya Chowdhury, CEO of Action for ME, and Andy Devereux-Cooke, co-founder of the Science for ME forum were the other guests from the DecodeME project.
Dr Short, himself CEO of a start-up for genetic research on personalised medicine, hosted the show with ability and discretion, asking the right questions at the right time without disrupting the flow of conversation. Although his three guests represent the same initiative, they each contribute a specific expertise and personal experience, making the discussion well-rounded and balanced while keeping it diverse. Professor Ponting covers the science behind the project, Devereux-Cooke represents the patient side, and Chowdhury links the two through her comments on public policy and the care sector.
Importantly, all three also have a private history with ME/CFS: as a life-long patient, friend of, or mother of a patient. These personal testimonies add relatability and edge without tipping into melodrama. I thought that the opening made by Devereux-Cooke, summarising his 40 years of coping with ME/CFS, was very powerful and made clear the urgent need for more solid research to be undertaken into the causes and mechanisms of this poorly understood disease.
Devereux-Cooke's story illustrates the two parallel tragedies that many ME/CFS patients experience: one relating to the debilitating nature of the disease, the other to the fact that there is no understanding, no cure and often enough no straightforward diagnosis or even recognition of the illness. At worse, medics have been reported to accuse patients of malingering.
The first part of the podcast captured my attention and left me eager to find out more about the DecodeME project and the science behind it. Unfortunately, these aspects were less well communicated.
In my opinion, Professor Ponting's overview of the methodology and scope of a GWAS lacked the detail one would expect from a genetics podcast. I thought he fell prey to oversimplification and failed to convey why genetic studies are so well placed to enable personalised treatments (see BioNews 1118).
I was also disappointed that there was not more information given about our current understanding of the disease. While I appreciate that there are more gaps than knowledge about ME/CFS, I do not think it is accurate, nor fair, to claim nothing at all has been achieved.
Despite the lack of diagnostic and therapeutic tools for ME/CFS, I believe that scientists and physicians in the field agree on several physiological pathways that are likely to be affected and could be targeted by treatments. Altered immunity, chronic inflammation and hormonal imbalance are a few of these.
As a bottom line, the podcast stays true to its title: it is all about the challenges of coping with ME/CFS, in terms of disability and lack of care. However, for those interested in understanding more about the science behind the disease, or the research being conducted into it, the podcast will not offer much new insight.