because it doesn’t go away

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.

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17 thoughts on “because it doesn’t go away”

  1. Bang on target.
    If cute children with Rae diseases grow up they are going to be less cute adults with rare diseases. They will still need funding and they and their families will still need support.

  2. I do have a friend with a very rare disease. It’s an extremely rare form of Cancer that took more than three years of specialists and the best in hospitals to even diagnose. Our advocacy in the area of “rare disease” has been to closely walk that valley with that family. Your contribution to the support and advocacy of families affected by PSP and Rare Diseases is a true gift to others, but I know it must cost you dearly in so many ways. I recall when Dudley Moore was diagnosed and at the time I had never heard of the disease. You’ve increased my knowledge quite a bit. Debra

  3. Hi Speccy, you are doing a wonderful job. I have some links which you may already know about – I don’t work in a clinical role at MHRA but slowly starting to learn a bit more about rare diseases and how drugs are developed.

    http://bit.ly/RGT5bm

    1. Nicola, that’s very kind, thank you! We work quite closely with RDUK and have some pharma companies on board, so they will know these things from their worlds, but I’m not familiar with them- yet! *loses more days to following links*
      I’ll try not to plague you to explain things to me now 🙂

  4. I’m sorry to hear about your mum, Speccy. More power to your elbow when it comes to raising awareness. Keep doing what you’re doing.

    GPs should always refer when they haven’t much idea so the neurologists can decide. But with PSP, neurologists don’t really know for sure except by examining brain tissue after death. They thought my mother had it. She turned out not to have it. But because they thought she had it, they looked no further for the causes of her symptoms.

    Never completely trust a neurologist. It’s not their fault but they really don’t know very much at all.

    1. Jan, we’d never had a neurological problem in the family before, so we were starting into it all bright eyed and bushy tailed, with the expectation of: get diagnosis- get tablets- get better. We learned. One of the hardest things is that even if they get a name for a condition eventually, that doesn’t mean they can do anything about it.
      I’m sorry your mum had to through anything PSP like- devastating for you all.

      1. Yes, that’s exactly it, Speccy, the diagnosis-tablets-recovery expectation. Also the expectation that highly paid, highly regarded neurologists know what they are talking about. All expectations shattered in our case. But thank you Speccy for understanding and my sympathies to you and yours too. The cause of mum’s demise remains a mystery but we often think of her always with oodles of love. I’ll see her again one day.

  5. You are doing a great job and raising awareness is so very important.

    The brain is such a complex organ, and the knowledge search is only in its early years, (compared say with how the kidneys work) so neurologists are working with ‘incomplete data’ I feel – so the advances of research in this area will help enormously in the long run.

    I heard on the radio a couple of days ago about research which is showing new information for people suffering from mental health issues – I wouldn’t be surprised if, in the end, the diagnosis of mental health conditions become amalgamated with neurological conditions….

  6. Hi Speccy, I met one hepatologist; three neurologists; two rheumatologists; an expert and five ophthalmologists before I received my diagnoses (there is more than one diagnosis). I was referred to England twice accompanied by unreliable results and opinions. I have been fighting for a better protocol for WD since 2005; all rare diseases since I joined RDUK in 2010. I spoke up. I have been subject to disparaging written comments ie I have no neurological signs but a slightly odd personality; rheumatological symptoms are subjective (all in my head) because I am slightly obsessed. Neurological signs that are not normal have since been detected and as for the rheumatological symptoms evidence for three inflammatory diseases has been found. It was always visibly apparent that there was something rheumatological wrong. Two of my relatives died before diagnosis of the hepatic form of WD at ages nine and twelve. WD is treatable. I want to see a better protocol in use for both children and adults however I am very keen to see more recognition of WD in adults. To dispel the archaic notion that WD only presents up to the age of forty. People in their seventies have been diagnosed; there is no longer any age limit for presentation. From my experience many doctors are oblivious to this fact therefore adults over the age of forty may not even be suspected of having WD or being investigated. Doctors will not find what they are not looking for. It is treatable. People will be misdiagnosed; they will suffer horrendously. I had been trying to raise awareness of one rare disease alone for years, mainly the adult form, before RDUK or NIRDP came along. It has been slow but I am proud to be able to say the gains I have made (re-evaluation of a testing technique; raising awareness among clinicians who are listening to me) are among the most useful things I have done with my life. However I know from years of speaking up ‘all on my lonesome’ that we are stronger together. Working for all rares diseases and all ages groups.

    1. Your experience and quick mind are invaluable to the rest of us! I only think in short bursts, but you understand the complexities and, more importantly, can translate them into human speak 🙂

      1. We share ‘events’ that have turned both our lives upside down and left such an impact that we feel compelled to do something about it. Cannot, just cannot, ignore it. That dark hole with the name ‘rare disease’ linked to it. And you are correct – different circumstances but ‘it does not go away’. Probably obvious from the length and content of my previous post. I cannot organize a handbag and I certainly could not speak in front of an audience the way that you can. So keep ‘barging’ for all of us. x

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