We are excited to share the following blog post from Lindsay Randall.  Lindsay is the founder of Arthur’s Quest, our partner SLC6A1 community in the United Kingdom.  

On October 10th, my daughter’s 4th Birthday, I attended the 4th Annual MarketsandMarkets Orphan Drugs and Rare Diseases Conference in London, as a speaker. My Husband Daniel, and friend and Trustee of Arthur’s Quest, Alex attended with me. We had to leave home at 5.50 am to catch the 6.15 am train to London. I needed a coffee, but there was no time!

We arrived early to the conference, so we waited in the foyer of the adjoining hotel. Once inside the conference building, we were able to circulate the stands and find some seats. Thankfully, Daniel noticed that there were in fact 3 separate rooms, and 3 separate conferences taking place, and we were set up in the wrong one. Once in the correct conference, we settled down. I was up at 12.15 pm. The initial talks were fascinating: Dairine Dempsey presented the latest developments in Orphan Drug Regulation, Pedro Borga, on Market access for rare disease drugs: a mindset not a function, and Rudiger Schulze, on Launching Orphan Drugs in Small Markets. After a coffee break, Simon Guiver, of UCB, presented on Navigating Operational challenges in rare diseases. Then it was my turn.

As this was my first public speaking event for SLC6A1, I was extremely nervous, but once I could see all the tech was in place, and I started talking, I calmed down. I spoke about our personal journey and experience of SLC6A1, about the research and the Phenylbutyrate trial in the US, and about the struggle to gain access in the UK. I spoke about the positive effect Ravicti is having on patients in our community, beyond the trial, and why it is so important for families to be given access to trial this drug. I then presented information about the new formulation being worked on with Aayam Therapeutics, and plans for the future regarding this drug. I received a heartfelt round of applause. During lunch, I was approached by several members of the audience who offered praise, support, advice, and networking opportunities. I received contact details of people who may be able to help, and I was invited to speak at another event in London in November. As the break ended, I was approached by Anthony P, who told me that he was really touched by my presentation, and he was trying to think why he knew the drug phenylbutyrate, then I said Ravicti, and Horizon, and it clicked into place, he was part of the research team involved with Horizon and the original trial for Urea Cycle Disorder! I couldn’t believe it, and neither could he. He told me how wonderful it was to hear that this drug he worked with many years ago was actually having a positive effect on other rare conditions. In his excitement had already sent text messages to others who he worked with back then, to tell them.

What a coincidence!

I left the conference feeling really positive about some of the connections made, and have already jumped into action contacting them.

Thanks, Lindsay

Kevin McEntee

I am an SLC6A1 Dad working to find a cure!

1 Comment

Júlia Ferreira · November 22, 2023 at 7:19 pm

Thank you so much, Lindsay! Thank you so much for your work!

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