Two weeks ago Duncan Batty went to speak at the World Orphan Drug Conference in Belgium. Duncan is a volunteer for us here at the AKU Society, and is himself an AKU patient. In this week’s blog he gives us an insight in to the conference, and what it was like giving a patient perspective.


Being invited to talk at any Conference is an honour, doubly so when the conference is about orphan diseases. For anyone who hasn’t attended a scientific conference, then it is a rare beast indeed, and I would recommend it. You may not understand some of the science, but the commitment and enthusiasm of patients, advocacy groups, clinicians, researchers and pharmaceutical companies is awe inspiring.

The World Orphan Drug Congress is a three day event, and I was talking on the final day. My presentation, entitled “Clinical Trials, Research and Advocacy – A Patient’s Perspective”, centred on two journeys. The first story was mine as a patient with an orphan disease, and the second the story of the AKU Society, from its formation to the present day, highlighting the role of the Society in the latest clinical trial.  These two threads were underpinned by some of the science behind AKU, and centred on why nitisinone is an ideal candidate to become an effective treatment for AKU.

As I was limited by time, I could only touch on the highlights for both journeys. However, I was able to include a small section on the high density mineralised protrusions found in a hip joint of an AKU patient, reported earlier this year and covered by the Daily Express in August, and the importance of identifying those fundamental diseases that can be used as models for more common medical conditions.


My talk was well received. One senior doctor from Northern Ireland commented that she wished she could have found informed patients to talk to Medical Students when she had a teaching position. Many of the medics she trained were so focused on curing/treating patients, they failed to appreciate the science behind the conditions.  I used the phenylalanine-tyrosine metabolic pathway effected in AKU as an example of why it is important to understand the biochemistry.

I was also invited to sit on a panel of experts to discuss what challenges are facing the orphan drug community over the next 5-10 years.  I focussed on the needs of the patients, reiterating my belief that drugs already on the market, with a proven safety record and a potential to make a difference for rare disease patients, should be made available.


There were several other patients with rare diseases at the conference, each with their own unique story. I’d just like to mention Katherine Lyons from the SCAD Alliance (Sudden Coronary Arterial Dissection) who came over from America. As a patient advocacy group, there are a lot of parallels between the SCAD Alliance and the AKU Society. In a very short space of time, both have gone from having a few patients with no direct contact with each other, to a well co-ordinated group initiating research into the condition in both the USA and UK.

Why did Katherine hunt me out? It is because my sister-in-law had a SCAD heart attack 3 years ago. There are so many rare diseases out there. Over 7000 was often quoted. You are likely to have a friend or family member who has suffered from a separate condition.  It’s a small world!

As an aside, getting to Brussels was a lot more straightforward than I thought it might be. I travelled using my small mobility scooter and used trains throughout. Catching the train from Cambridge to Kings Cross, and a quick hop over the road to St Pancras for the Eurostar was all it took. Like many organisations, Eurostar makes allowances for people with disabilities. The standard package for those using a wheelchair/scooter is to automatically upgrade you and your carer, which includes a meal for the price of a standard ticket.

The slides for my presentation are available from the AKU Society, and if you would like to get in touch or ask me any questions, you can email [email protected]