February 28th is Rare Disease Day. What? You didn’t know that? Well, let me help you out. Rare Disease Day is organised by Eurordis (the European Oragnisation for Rare Disease) and always falls on the last day of February. Here’s what Eurodis says about Rare Disease Day: “The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.”
I’ve recently started to work in rare diseases and I got really excited about this opportunity. If Rare Disease Day is all about raising awareness about the impact on patient’s lives then surely the team at Publicis LifeBrands—and our sister agencies Publicis Resolute and Real Science—have something to say about this. So I sought out some rare disease experts so we could “show our rare”.
Meet our rare disease “experts”. I use the word expert here loosely, not as a dis to my colleagues, but really because how can you be an expert in a field that consists of over 6000 existing rare diseases. Spoiler alert: you can’t. I’m not sure anyone can. However, I do think that I’ve gathered people with enough knowledge and experience to give you a sense of our collective experience in rare diseases.
Meet: Joe, Senior Account Executive, Real Science
Hit him up on LinkedIn here.
Meet: Victoria, Associate Director, Publicis Resolute
She’s a way bigger fish than Joe, so you actually probably want to hit her up on LinkedIn here.
Mac: How long have you worked in rare diseases and which ones?
Joe: Since I joined Real Science about a year and three quarters ago. So almost two years ago.
Vic: I’ve worked on rare diseases since my first day at Resolute. I joined in July 2008, so nearly 10 years.
Mac: Which rare diseases do you work in?
Editor’s note: yes, he did pronounce that perfectly.
Vic: I started out working in a rare hematologic disease ET at a Global and UK level. I have also worked in Hunter’s Symdrome, Gaucher disease, Fabry disease which they call LSD disorders because they affect areas of the metabolism where you are born without enzymes that you need to digest properly. I’ve also worked in Duchenne Muscular Distrophy—a rare disease that affects mostly boys causing their muscles to severely weaken. So, really probably more than most.
Editor’s note: yes, Vic has probably worked on more rare disease than your average person. And her pronunciation was impeccable.
Mac: What’s something about working in rare disease that has stuck with you?
Vic: How well connected and small the rare disease community is. There are families that know each other all over the world and all of the leading KOLs know each other personally and they talk a lot. Advocacy groups also know the families personally, by name. It’s a small, closed, and well–connected community that talks to each other.
Editors’ note: KOL stands for key opinion leader which usually means specialist doctors who are at the top of their field and help lead/shape the areas they work in. Also, healthcare loves their acronyms—in case you haven’t got that already.
Joe: Ok, so I can’t really go into details of the work but in HPP bone creation is affected which means you can get soft bits of bone popping up throughout the body and damaging organs. And the mortality rate of this is 76% at 2 years of age.
Mac: Ok, so I’ve realised that this blog post is now really long, so I am going to wrap it up. If you were to talk about your work in rare diseases say at a party and someone was genuinely interested in it (because that happens right?) what would you say to them?
Vic: It’s one of the ways I tell people what I do. When I try to explain to people what I do in Medical Education its really hard. What I try to tell people is that rare diseases don’t get the level of air time that the big 4 or 5 have (like diabetes or heart disease). Rare diseases are so under recognised and underreported, I feel like we have a responsibility in Med Communications to get the information out there about there.
Joe: People are actually interested or excited when they find out I work in rare diseases—which actually seems like a myth because I work in a very specific area within rare diseases so I take the time to explain what I focus on.
A problem in general about rare diseases is that people aren’t looking out for it. Many of the symptoms may seem really common so patients get passed around and it takes a long time to diagnose which I think can be one of the worst parts about rare diseases.
Vic: Absolutely, and that’s what makes our work so worthwhile. Being able to create meetings or materials that educate healthcare professionals around rare diseases makes my job feel meaningful. Because otherwise Paediatricians and doctors wouldn’t even know the possibility of the symptoms their patients are experiencing. Two symptoms may seem really unconnected but when they present together that may mean trigger something else to look for to help identify a rare disease.
There is a lot of nuance in rare diseases. There’s usually something about it that’s genetic but isn’t passed on directly and generally, they are debilitating or life threatening. They are rare for a reason.
Thank you to Joe and Vic for taking the time to chat with me. Hopefully after reading this blog post you’ve gotten a sense of what it’s like to work in rare diseases.