We are proud to announce the first #RARETalk interview, a chat series that involves #RAREvolutionary people active in the rare diseases scenario.
Our first guest is Nicolas aka Nick Sireau, a dad and a pioneer in developing rare and orphan disease awareness. Discover more about Nick’s story and mission in the following interview, where he shares its personal experience about Alkaptonuria.
If you want to collect more information about Alkaptonuria, visit the dedicated disease page on the RE(ACT) Community. Once reached the threshold of 25 followers, a disease will be unlocked and people can start donating for supporting the related research projects.
1. Welcome on the RE(ACT) Community Nick. Can you introduce yourself for our readers?
Hello everyone, I am Nick Sireau and I am the Chairman of The AKU Society - where AKU stands for Alkaptonuria, also called the Black Bone disease. I am also the Chairman and Founder of another charity called Findacure, which is building the fundamental diseases community to drive research and develop treatments.
2. How your life changed after discovering Alkaptonuria affected your children? Which is the most important takeaway you have learned from your story?
I discovered in 2001 that my child had Alkaptonuria. My wife and I were changing his nappy and it was red-black. We called the emergency doctor and he thought the reason was the baby assumed red cabbage throughout the breast-milk, so the urine was red. In a few months we discovered the real diagnosis. It opened to me the doors of the rare diseases world, which was totally unknown to me. Furthermore, I have learned that the number of people affected by rare disease in the world is really high and nobody talks about it. But we can change the current situation and I am trying to do so connecting people who are concerned about rare diseases in order to spread the voice around the world.
3. In a speech made for TEDx Imperial College, you have talked about 'Rare diseases' as 'Fundamental disease'. Why?
Many rare diseases are fundamental to understand human biology and can help to understand common diseases. Alkaptonuria, for example, can help to understand better osteoarthrosis – a real common disease. So Alkaptonuria is a fundamental disease for osteoarthrosis. This is the reason why I prefer to talk about fundamental diseases instead of rare diseases.
4. In your opinion, which are the main issues linked to the Rare and Orphan diseases research? How can the RE(ACT) Community and the projects you are working on change the current scenario?
The RE(ACT) Community plays a very important role, because the main issue linked to rare and orphan diseases is the lack of funding. Researchers struggle to find supporters for their projects and industries are not interested in investing in this field. So the RE(ACT) Community offers ways to crowdfunding for rare and orphan diseases, often ignored by people.
5. Why people should be interested in donating for Rare and Orphan diseases research?
Basically, people who are not direct involved in rare and orphan diseases should donate because the research on that kind of diseases can help to better understand common diseases and human genetics. So, research on rare disease can give a wider hope for the evolution of scientific research, helping people who are affected by rare diseases to feel not isolated anymore.