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Rare Diseases Q1 2023

Living with a rare disease doesn’t mean you have to struggle alone

Photo credit: Sophie Buckley

Nikki Lilly (pictured above)

Charity Campaigner, Founder of the Butterfly AVM Charity, Digital Creator and Presenter

Nikki Lilly shares her experiences living with the rare disease arteriovenous malformation (AVM) and how she helps raise awareness.

Q: What are your interests/passions? 

NL: I started making videos online when I was eight, to cope with everything and find new interests and hobbies. I found such a love and passion for making videos online. Baking and makeup helped me express myself at a time when I felt very isolated from the world.  

Q: How did you find out about your condition?  

NL: I was diagnosed at six years old, and it took a lot of referrals. There was such a lack of information on AVMs back then. It wasn’t even in the NHS directory.   

AVM is a problem with the vascular system and is a condition I was born with. My AVM is on the right side of my face, top of my head and gums. A facial AVM affects three in a million people, so it’s extremely rare.  

Because AVMs are so rare, online information is lacking and often outdated.

Q: How does AVM impact your day-to-day life? 

NL: Common symptoms include chronic pain, fatigue, swelling and bleeding. Bleeding is a big one; it’s also the most life-limiting for me. I get life-threatening nosebleeds which can be really scary, and I never know when they’re coming.  

You end up living life with a lot of anxiety and uncertainty. From an early age, my parents and I had to make life or death decisions regarding treatments and operations. Having a chronic disease is a constant day-to-day battle and rollercoaster of emotions. 

Q: How has the (Butterfly) AVM Charity helped you and others? 

NL: Because AVMs are so rare, online information is lacking and often outdated, especially back when I was diagnosed. As the first registered AVM charity, we wanted to provide emotional support to AVM sufferers and their families and talk to them about doctors and available treatment options worldwide. 

Q: What action needs to be taken for rare diseases? 

NL: Firstly, raising awareness is vital. Many pharmaceutical companies are not willing to invest in an illness that occurs in such a small percentage of the population. Funding for research could not be achieved without volunteers who selflessly dedicate their time and efforts to help raise money — from running marathons to baking cakes.  

Our researchers have now found one of the genetic mutations that cause AVMs. Focused research has the potential to provide breakthroughs; this hope keeps me — and people with a rare disease — going.  

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