Rare Disease Day 2020

The 29th February was #rarediseaseday. Having Spinal Muscular Atrophy puts me in with the 300 million other people with a rare disease.

When speaking about my condition I’ve always pointed to what I can do. Indeed my career is about what most disabled people can do today, and how society can include us even more in to the future. It’s about living with a rare disease and thriving. With an acknowledgement to the most severe diseases that really do effect any ability to grab life.

Last week I was invited to Basel in Switzerland by Roche to speak at their Rare Disease conference. It was an amazing trip. I enjoyed meeting the team, learning about their research in to treating diseases, and had amazing feedback from my speech.

Along with Biogen and Novartis, these 3 companies have shifted the game for me and others with SMA. New treatments are either ready or in the pipeline. Something that just wasn’t a reality for most of my life.

The treatments are not cures. Until bigger innovations occur, I would still be relying on my care and equipment to live independently. The biggest hope is I wouldn’t get weaker in the future, as would currently likely happen. This is also reliant on being able to get access to such treatments. Which is a whole other post.

So whilst my message of inclusion continues for accessible places, products, workplaces and marketing campaigns. On a personal level I’m in a new place of research and evaluation as to what treatments could do to enhance my health. Considering any risks or downsides to taking them.

The fact the next generation of people with SMA may be more physically strong from the treatment is undoubtedly a positive. But I’m also aware of how amazing my life is, with having SMA as a beautiful part of that identify.

The possibility of eradicating such diseases does create an interesting internal dialogue about a world without SMA. My daily life is more of a challenge. That’s an understatement too! But it’s my reality. Along with my SMA family, it’s weird to imagine a world without it.

Its very difficult to express everything that living with a rare disease means to me. But I hope this helps 😀

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