The regular reader will know that I have an interest in rare diseases, in supporting people affected by them, and in lobbying for recognition and better support. I’ve been involved in setting up a network of local families, charities and other organisations. I’ve written papers and given talks. I do what I can do, and more than I thought I could.
I do this because of Herself. My mum had a rare disease, one we’d never heard of. She had Progressive Supranuclear Palsy– a degenerative brain condition. There is no effective treatment and no cure. Her GP was unaware of the condition. Most are. And yet, there are 20 or 30 people in NI with PSP. What about the families who are the only people affected by a condition? How do we support them? We reach out, we offer an ear, we lobby, we try to connect. We believe we are stronger together.
Herself died last year. That was both totally predictable, yet deeply shocking. The gap between what the head knows and what the heart knows is amazing.
The musician, actor and comedian Dudley Moore also had PSP. After his diagnosis, he participated in a short film. I recognise so much of this. He’s still fairly mobile, and able to join in conversation, but the gaps, the growly voice, the wobbling, the blank face- all that gives me pause.
Collectively, rare diseases aren’t rare. You probably know/ know of someone who has been affected by a rare disease. You may have one yourself.
I’m no health professional, but I know about the impact a rare disease can have. Patients and families need better services, and all the support they can get. Many rare diseases affect children, heartbreaking, cute children. But many don’t. It’s harder to front an awareness raising campaign as an adult. You can’t even fundraise if there’s no cure anywhere anyway.
I’m just going to have to keep on keeping on. Barging about support, shared working and the need to educate professionals. While having a wee weep at Dudley.