We Need To Talk: Opening Up and Helping Out With Rare Diseases And Orphan Drugs

In Orphan Drug Congress by Hugh Blackstaffe

Stand By Me


I couldn’t possibly imagine what it is to be someone with a rare disease. I don’t have the personal experience or anyone in my family (that I know of) who has one. Frankly, when dealing with the topic of orphan drugs or rare diseases, I do not purport to be an expert. I am not a scientist or a patient.


I can only imagine what it must be like, and in my mind, it seems to be a place of isolation, desperation, and hope, regardless if you have the disease or a family member has it. For the several thousand rare, ultra rare, undiscovered and untreated rare diseases, there exists a handful of therapies. And these are not necessarily cures, but drugs that keep the disease in check, enabling sufferers to have as a fulfilling life as they are capable of. I have heard from patient advocates who represent patients and I have spoken to patient advocates who have family members with the diseases or maybe have experience of it themselves and from what I can see, whilst progress is being made, it’s honestly not enough.

The problem here lies with the Chain of Orphan Drugs, a concept I use to help how understand the system works. This chain is comprised of several large, intersecting links, each with a major significant role to play in the orphan drug world. Each link is representative  of a component of the orphan drug sector, the patient link, the clinical research (CRO) link, the pharmaceutical link, the law maker and policy shaper link etc etc. Every link is intrinsically connected to the rest, and whilst they may not be in direct contact with the majority of other links, their actions directly affect everyone else.

Every section of this chain is vital to finding, developing and marketing drugs to essentially save and improve lives. And if one link is weaker than the rest, then the whole system is in trouble, and it’s the duty of the other links to help the weaker one.

With orphan drugs and rare diseases, we have a duty of care to each other. It’s a two way street. You help me so I can help you. And this is something that goes beyond just the money (though lots of the issues are based around a lack of money), it’s something that should be down to our very human nature.


And humans are really good at two things: Creating and Destroying.

And nobody wants to see the latter happen in orphan drugs…except if it’s destroying all the rare diseases.


So, here’s the rub. We all have our priorities and our responsibilities, whether that be managing a multibillion pound pharmaceutical corporation or caring for a rare disease patient, and we all have our resources, as little or large as they might be. Every link on the Orphan Drug Chain has their own priorities and focuses, their own business goals or primary objectives, and these are predominantly work related goals…so how about broadening the horizons a little and improving those relationships with the other chain members? Engage with more patient groups beyond your current corporate remit or get in touch with some of the funding bodies available to drive your own research into the diseases? There are ways to overcome and conquer all challenges, and more often than not, we need someone else to help us.

Now, of course there is a certain critique to this, “It’s just not realistic in this modern day and age, Hugh” or “Come on, you fail to see that companies have shareholders and board members to consider, profits that have to be made” and a number of other ‘just-not-realistic’, but honestly, once you strip that away and look beyond it, you’ll see that essentially all we need to do is connect with each other better. And that connection is what is going to start making a difference. Simply, we are in a fantastic position to start making a real difference to peoples lives because we have the resources, we just have to push ourselves to go a little but further, cast nets a little bit wider and have a few more conversations outside of what we normally do.

Every part of the chain needs to do more to cement the relationships that will make a real difference. It’s going to be a challenge, but the links, companies and groups that start pushing themselves out there a little more are going to see some fantastic results.

And that’s what I’m trying to do with my event, make it the opportunity for everyone to make those connections, cement those relationships and start making a difference, because no matter where you sit on the chain, we all know it’s time to start doing it. So get to it.


Thanks for reading, if you’d like to find out more, please visit the event website.

On the 28th of February, it’s Rare Disease Day, and it’s a fantastic opportunity to make your voice heard around the world and hopefully start making a difference.


If you’d like to get in touch, feel free to email hugh.blackstaffe@terrapinn.com or follow me on Twitter @HBlackstaffe


Thanks for reading




P.S This week, I wrote the blog listening to a playlist of The National, who feature on the soundtrack of ‘Warrior’ (Gavin O’Connor, 2011)