One in a million - Living with rare disease
This blog is coming to you a tad (very) late, but better late than never! It has only taken me about 6 weeks, with one draft deleting itself, and dealing with life's hurdles and balancing work/life/health etc etc! But it's here, and it's an important one.
Did you know that Monday 28th February was Rare Disease Day? As the name suggests, it is a day dedicated to raising awareness about rare diseases.
Did you know that a disease is 'rare' when it affects less than 1 in 2000 people? So, rare isn't as rare as you'd think! We're not all one in a million.
Obviously, I have cancer (if you didn't know that, where have you been?), and as we all know, cancer is not rare. In fact, statistically, 1 in 2 of us will get cancer in our lifetime. However, something that has frustrated me ever since my diagnosis in 2016 is that we use 'cancer' as an generalised term and put every cancer patient under the same umbrella. But, as I was told when I was first diagnosed - there are hundreds of different types of cancers. So, sure, 1 in 2 of us will get cancer in our lifetime, and sure all 'cancer' is a bunch of malignant mutated cells, but every single cancer in every different person is completely individual, the cells look and act differently, and each case requires an individual treatment plan. Moreover, each cancer can be 'staged' and 'graded'. So even if you have the same 'type' of cancer as someone else, you may be at different stages (1-4) and have secondary cancer in different places which would mean your experience of the disease could be completely different.
This is where rare cancers get messy. As so few people have it and so few have had the cancer in the past, it's harder to spot patterns, to run clinical trials, to research prevention/causes. If a handful of people are diagnosed with a particular disease in a year, the sample pool is simply too small to gather data and draw reliable conclusions. So, it can take much much longer for new effective treatments to be discovered.
This is part of the reason I'm on a drug that has not been approved yet and has only been through Phase 2 trials for my cancer. Cediranib, the oral chemotherapy currently working to stabilise the 'innumerable nodules' in my lungs, is effective but apparently not effective enough to warrant it being approved and used as a regular treatment option on the NHS. Cediranib can also be used to treat Ovarian cancer, interestingly, but again it is not approved. It's essentially still in trial phases and who knows if or when it will be approved. I've been granted it on 'compassionate' grounds, which is great, but accessing this type of drug would be a lot easier if it were approved. Don't even get me started on the whole 'cost effectiveness' business and profitability of drugs - surely saving lives should come before profits? As Sarcoma UK put it: "Pharmaceutical companies do not feel incentivised to conduct research into new sarcoma drugs, under fear that even if the drug is successful, they will not recoup the money spent on its development."
Further, it's not just that it is difficult to research rarer diseases but that there is a lack of will among scientists to do so. Why research a disease that affects very few people when you could research a disease and potentially save thousands of lives? I'm no scientist so can't pretend to understand the ins and outs of how clinical research works, but this just seems the way. About 1 in 5 cancers diagnosed in the UK are rare cancers. Many of these have had no advancement in treatments for over 40 years. This is much slower in comparison to many more common cancers (of course, this is not the hard and fast of it, and many common cancers have had very little research too). Where's the incentive to do more? Hopefully, with the help of amazing charities such as Sarcoma UK, who advocate for people like myself, research into rarer diseases will start to improve.
In fact, hopefully in June I will be attending and speaking at an event hosted by Sarcoma UK - the launch meeting of their new Sarcoma UK PhD Student Network. Their goal is to bring the PhD students funded to research sarcoma together and improve the drive to continue in the field. I'm nervous to share my story in front of strangers, but I am excited by the prospect and hope it helps to improve motivation to continue researching! I'm all here for guilt-tripping people into finding me a cure :D (I jest...)
I can only apologise for how late this blog is coming out to the universe, but I hope it has inspired you to think about rare disease and maybe do a bit of research, or perhaps donate to a small charity doing work to improve prospects for those of us who will be diagnosed with a rare disease.
If you are living with a rare disease, I'd love to hear how it impacts you. For me, living with a rare disease for the past 6 years has been lonely and scary. It's people never having heard of it, my consultant not even knowing what my treatment options are, health professionals never having heard of my medication - my medication not even appearing on their databases; there being few support groups for me; only meeting someone with my disease for the first time last year and her living miles and miles away. At times I have felt completely isolated in my experience. The age old phrase 'you're never alone' just didn't ring true to me - I literally knew nobody who was 18 and going through a rare incurable cancer diagnosis, certainly not living in the UK. Living with my rare disease is living with a very uncertain future, sometimes living day to day, week to week, month to month. I've had long periods of stability, and for that I am very lucky, but it is never going away and I'll always have to live with it and everything it comes with. But, I have met some of the most amazing people, and so many other RARITIES (in more way than one), and I am so grateful and humbled by that.
Please share with me - what does rare disease mean to you?
If you could comment on this blog, that'd be great, but even if you contact me on Instagram or by email, I'd love to chat! If I get some interesting responses I may compile them (anonymously)...
Thanks for reading, as always.
Some useful resources/orgs I'd love you to check out:
If you are going through cancer and need support, there are many amazing charities: