Rare Disease Day 2019


Rare Disease Day is an international day designed to raise awareness to the public and those in government about rare conditions and how they affect people across the world. The day falls on the last day of February every year and sees thousands of events happening internationally. The AKU Society team travelled across the UK to represent our patient group at three events in England and Scotland. 

Findacure ‘Drug Repurposing For Rare Diseases’ 

On Wednesday 27th February, Nick, Juliet and Ciarán travelled to the impressive Royal College of Nursing building in the heart of London. They were there to attend Findacure’s Drug Repurposing for Rare Diseases conference. Findacure hold a similar event around the same time each year and use Rare Disease Day to champion the need for more rare disease treatments using the repurposing model. Each year the event features talks from some of the leaders in the rare patient advocacy and industry sector. 


Findacure/Arnab Ghosa

After welcome coffees, the event started with an introduction from Findacure CEO Dr Rick Thompson, who gave an excellent presentation on the purpose of the day and the need for repurposed medicines in this sector. 
Next came a fascinating talk from Rachael Bloom Stevenson, Executive Director, Reverse Rett & Becky Jenner, CEO, Rett UK who have joined together to create a partnership to assist in the running of the first ever clinical trial into a drug for Rhett Syndrome. The talk highlighted the need for patient groups to not only work together but for clinicians and hospitals to listen to the patient voice so they can improve the experience of patients and their families enrolled in clinical research. 

The next talk was from Prof. Ranganath, AKU Society trustee and clinical lead at the National Alkaptonuria Centre in the UK. Ranga used the example of AKU and DevelopAKUre to further explain the repurposing model and how effective it can be when partners from every corner of industry and health care come together for a common goal. Ranga’s talk educated the audience in what repurposing and collaboration look like from a practical doctor’s perspective.


Findacure/Arnab Ghosa

He was followed by a last-minute addition of Dr Pan Pantziarka from the Anti-Cancer Fund. His talked focused on the need for generic or off-patent medicines use in treating complex diseases. His talk was balanced and gave the problems and the solutions to this approach. 

Next came a joint talk from Catherine Lawrence from Santherea and Janet Bloor Chair of Action Duchenne. Their talk focused on their collaboration as a patient group and pharmaceutical company. Janet gave her valuable perspective of drug repurposing as a seasoned patient advocate for Duchene Muscular Dystrophy. 

After another break, it was time for Findacure’s trademark lighting talk session. These are small micro presentations where you must finish within 5 minutes or hear the dreaded bell. These included talks from companies who can aid clinical trials to help hard to reach patients by sending research nurses to where ever they are, and innovative new ways patient data can be used to improve treatment outcomes. 

The final talk of the day was from Suzanne Morris a patient with PNH (paroxysmal nocturnal haemoglobinuria). Her passionate speech highlighted her journey and how things have changed for rare diseases patients over the years. She underlined the need for positive attitudes for rare disease patients, even when they can’t see any treatment or cure. Her take-home point was that she hasn’t and won't let her condition limit her life in any way. Her story is a must for anyone who is feeling downhearted due to living with a rare disease. 

After a panel talk, we had the chance to network with other attendees over a glass of wine and canapes. A fitting end to a brilliant day. 

Rare Disease UK Parliamentary Reception to mark Rare Disease Day

Also on Wednesday 27th February, Ciarán, our Communications Manager, travelled to Westminster to attend the parliamentary reception at the Houses of Parliament along with 150 other patient, industry and governmental representatives. The day was held in the impressive terrace that overlooks the River Thames and the London Eye. It was a brilliant opportunity to talk to other patient groups in a relaxed atmosphere while rubbing shoulders with MP’s and industry representatives interested in rare diseases.  


Genetic Alliance UK/Josh Tucker

The main announcement of the day was the launch of the National Genomic Healthcare Strategy by Baroness Nicola Blackwood, the minister in charge of rare diseases and a rare disease patient herself. The new strategy aims to speed up diagnosis and help for all rare disease patient in the UK by offering them whole genome sequencing. This will allow doctors to look at the genetic makeup of a patient and hopefully lead to them receiving a definite diagnosis. The strategy is the successor to the 100,000 Genome project and will fall under the NHS’s long-term plan.


Scottish Parliament Holyrood Reception

On the 5th of March our fundraising officer, Juliet, travelled up to Edinburgh for the Holyrood Rare Disease Day reception at Scottish Parliament. It was an evening reception to campaign for better treatment of those in Scotland with rare conditions. The first part of the evening was a networking session with wine and delicious canapes to get the conversation rolling, many rare disease groups were there, discussing their issues with living with a rare disease in Scotland.



MSP Bob Doris chaired the session following with rare disease patients talking about their experiences living with their disease and how they were diagnosed. These patients told us moving stories on how they live with their condition, we heard patients talk about living with sickle cell and patients living with primary ciliary dyskinesia, including a parent who told us about her experiences with dealing with her daughter having primary ciliary dyskinesia. Singer/Songwriter Nicky Mcdonald then talked about his experiences with long QT syndrome, including a video highlighting his condition and experiences growing up with it. 

Scottish Minister for Public Health, Sport and Wellbeing, Joe FitzPatrick began to close the evening and discussed what Scotland is doing to raise awareness for Rare Diseases, wanting rare disease patients to have better access to information and more integration of services. Bob Doris ended the night by reflecting on the moving stories we heard from rare disease patients and what issues there are with living with a rare disease in Scotland. We are sure to attend next year to see if there have been any changes for rare disease patients in Scotland. 






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