it was ever thus

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!

Ah, no.

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.


20 thoughts on “it was ever thus

  1. thanks to another friend I am having a Mary Oliver day – she sent me:
    Instructions for living a life:
    Pay attention.
    Be astonished.
    Tell about it.
    SPECCY – KEEP ON TELLING US you are so right about our capacity not to notice unless it is about just us. You help us all to connect.

    1. Elspeth, you have the knack of making me feel clever. I like this 🙂
      Enjoy more and more Mary Oliver… she makes me look at the world anew each time I read her

      1. You are clever – as I see and read. Mary Oliver is so good I almost get cross about how can anyone be that terrific. And then I read another one and I am touched yet again.

  2. I’ve learned about my own brain trauma from bloggers and friends, not doctors or flippin’ scientists. I’d be in a world of hurt if they hadn’t shared what they know.

    Now, I’m pondering, waaaaay in the back of my mind, how to share what I know, or how to share art-making with others afflicted with ill health.

    Hell, I even created my own art therapy through wandering through books and websites. No wonder I’m tired!

    Keep talking, Speccy. You talk for those who won’t or can’t speak up. You give us information to rest against when the world is upside down.

    1. It’s amazing how we learn about the limits of medical expertise isn’t it? It’s the connections and the sharing that help us cope. When my mum (Herself- lots of posts about her) was ill, it was other families who were the experts, the people we learned and gathered support from.

      1. And perhaps it’s amazing how hard the Medical Machine worked at convincing us they Know All. I’ve seen the man behind the curtain, finally, and I’ve had enough.

        That’s a way of teaching, too, isn’t it, to accept expertise from folks who know the road…. each-one teach-one theory.

        I look forward to seeing photos of you jumping up and down and shouting. I can do the shouting, but I’m envious of the jumping! <:-D

  3. A thoughtprovoking, if rather grim post. However, as individuals we do have the power to effect change, however insignificant we feel. And we do it through the methods you are employing, raising awareness, getting more people on board. Now you need your William Wilberforce character. He’s not the most important person in the campaign to abolish slavery, but he gave the movement their parliamentary voice, while they got the country stirred up and behind the campaign.
    Anyone in mind?

    1. Seb Coe does quite a bit (his mother had PSP, as had my mum) but we need someone to be Mr/Ms Rare Disease rather than Lord Olympics 🙂
      Thinking hats on 🙂

  4. I know, campaigning for any kind of cause can be so frustrating if you get so little response. You feel you’re banging your head against a brick wall. I guess you just have to keep plugging away and eventually someone will take notice.

    1. Of course the way the disabled are being pilloried at the minute, the chances of a Champion being able to make a difference are limited! Did you see Panorama? Scary, but not surprising.

  5. I understand the value of connecting and sometimes those that bang the gong of advocacy don’t necessarily see the results of their work, but it doesn’t mean that progress isn’t made. Why, as a world effort, we don’t combine and put concerted effort into cures for rare diseases with the same energy we do economic goals will never make sense to me. I have a friend who has nursed her HD-afflicted husband, and now has an adult daughter with the early signs. Other friends have equally devastating diagnoses. I really commend you for your work, and I think you express your thoughts brilliantly. oxo

    1. Debra, there’s just not the money in rare disease it seems! Your friends have a lot to be dealing with, and I’m sure they are glad to have you in their lives/

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