Our personal situation determines what we notice in the world about us- a newly pregnant or miscarried woman sees babies and toddlers everywhere; a divorcing woman finds herself surrounded by annoyingly happy couples… oh, maybe that was just me again?
These days I see life through a prism of rare disease. I know that, collectively, rare diseases are not rare, and I look for them in all the medical dramas. My mind buzzes with possible connections, learning from this site or that, wondering how to make an impact. A few weeks ago, Kieran Goss spoke of his style of performance; he’s not out to be glossy, flash or technically impressive, he wants to connect with people. My mind flew off in a tangent of affirmation. Exactly that- the Rare Disease Partnership want to connect people. We want to influence politicians and policy makers by ensuring they connect with patients and carers to find out the reality of living with a rare condition- or multiple rare conditions. We want them to find out what we are talking about, why these things matter, and what can be done about them.
When we saw Arlo Guthrie, I didn’t have to go off on a tangent. Rare disease was right there, openly in the room with us. Arlo’s dad, folk singer, collector and writer, social activist and all round lefty, Woody Guthrie, had the rare neurological disorder Huntington’s Disease. HD is usually inherited, and so a diagnosis is devastating for a family, including but beyond the immediate care issues.
Arlo was asked about HD and chose to answer by talking about the work his mother undertook to raise funds and awareness of the condition. She wanted to connect families, share resources, encourage research and service provision. Mrs Guthrie helped form what became the Huntington’s Disease Society of America. Arlo talked of her hopes and frustrations, her disappointments, and how her concerns were dismissed.
Particularly telling was his story of the meeting with Watson or Crick, (two of the DNA discoverers) I can’t remember which. Oh, I was thinking, that’s a bit of a coup. Genetics! The guys with the prize! Hurrah!
Mrs Guthrie was told that there’d be more money in developing different colours of toothpaste than in discovering a treatment or cure for HD, so the research simply wouldn’t get done.
To date there is no cure or effective treatment for Huntington’s Disease, one of the better known rare diseases. Most people affected by rare disease don’t have access to Nobel prize winners or to Congress.
We just keep on keeping on, making the noise we can, trying to connect. Trying to make a difference.