'Shining A Light On Rare Conditions', the documentary created by ITN Productions with Genetic Alliance UK in celebration of Rare Disease Day 2022, is probably long overdue. This is possibly because the concept of a 'rare condition' in itself might raise more questions than it should do: in a research environment with limited funding, why should we study a condition which affects a pinchful of the population when one in two of us will likely develop cancer, and one in three will suffer from dementia? Additionally, with techniques to identify rare diseases such as whole genome sequencing now provided by the NHS, it is not unreasonable to suggest that the public deserves an explanation of how their taxes are being spent. Fortunately, 'Shining A Light On Rare Conditions' is thorough, sensitive with the subject and, most importantly, provides the clarity that has been missing until now.
The main point stated by the documentary, which is repeated multiple times over the course of its sixty minutes, is that while these conditions are individually rare, actually having a rare condition is relatively common. A rare condition is defined as one which affects fewer than one in 2000 people and so, with over 6000 known rare diseases, the European Commission estimates that one in 17 people will suffer from one of them during their lifetime. Due to their infrequency, many rare diseases have no known treatment, with pharmaceutical companies sometimes reluctant to develop suitable drugs. Healthcare providers may misinterpret symptoms or simply be unaware of the condition, meaning that some patients must wait multiple years for a correct diagnosis. One GP interviewed for the programme who suffers from Cushing's disease, caused by excess cortisol, was told by a doctor 'You can't have Cushing's. It's rare'.
The documentary, anchored by Sangeeta Kandola, consisted of interviews with industry experts and news items, as well as brief profiles provided by organisations leading the charge against rare diseases. Many of these videos, which included discussions with patients, often children, as well as their families were emotionally affecting, both by displaying the toll these rare conditions had taken on these families, but also due to their potential preventability. Spinal muscular atrophy, for example, if identified early by screening technology, can be prevented before the subsequent motor neuron damage becomes irreversible. Laurent Servais, professor of paediatric neuromuscular diseases at Oxford University, said in an interview that '[screening] doesn't just make compassionate and medical sense, it makes financial sense too', as while screening can cost around £3-4 per child, the costs of one person living with the condition, including a full life in a wheelchair and, most likely, one parent giving up work, are estimated to exceed £5 million. Whilst I think that it is necessary to be convinced by these harrowing personal accounts, I would also argue that Professor Servais' message surrounding the financial implications of rare diseases is equally necessary to hear.
That said, rare conditions also provide a plethora of unique difficulties. It is estimated that 70 percent of rare diseases have a genetic basis, meaning that carriers could pass these conditions on to their children. Margaret Hart, a carrier of retinitis pigmentosa of which her father suffers, says that her awareness of this has given her 'a bigger sense of responsibility' concerning her future decisions, in particular how she will go about starting a family. It was encouraging to hear how new research is providing patients with the opportunity to make informed decisions which will benefit both themselves and their families.
Additionally, the emergence of these conditions can also have an unimaginable effect on families in the present, especially as rare conditions most often affect children. The most striking aspects of the documentary for me were the interviews with parents of patients, who talked about giving up their careers and having their lives transformed by a condition with hugely limited available information. A section on mitochondrial disease, which followed Valerie Hill whose daughter, Emily, had gone from being an 'independent, young girl' to a 'dependent, young lady', was particularly shocking. That said, like much of this documentary, there was a resounding message saying that, while there is undoubtedly a long way to go, the near future seems much brighter.
Whilst many of the interviews in these clips, from both doctors and patients, were obviously intercut with requisite footage of scientists in lab coats studying their monitors and pipettes, this did not detract whatsoever from the focus of the documentary. I might have initially figured that a whole hour might be excessive for detailing the necessity for rare disease research, but I am relieved that ITN and Genetic Alliance UK took the opportunity to dive deep not just into the research, but into the lives of the people most affected by rare diseases and discuss how their lives can be transformed for the better. My only hope is that this documentary can reach as many people as possible.