My snowflake disease

December 8, 2013

Christmas snowflake ornamentSnowflake. It’s such an evocative word, isn’t it? It instantly conjures up something beautiful and fragile, something fleeting; and of course no two snowflakes are alike. When it’s used in conjunction with the word disease, however, it means that no two people will have exactly the same experience; that it’s unpredictable.

This is how my snowflake disease started. In April 2012 I suddenly started to feel very fatigued. I had terrible pain in my wrists and ankles. I was losing weight fairly rapidly. But the worst symptom was a cough. I have never smoked, but this cough was dry and painful and kept me awake all night; lying down made it worse. I put it down to the fact that I’d been working so hard and was under a lot of stress. I thought I had a chest infection.

The morning I woke up with lumps all over my legs – some of them dark red – I made an appointment to see my GP, who referred me to a consultant. I was seen within two weeks. Multiple blood tests, a CT-scan, lung function tests and a chest x-ray confirmed I have sarcoidosis.

Sarcoidosis. Sarcoid. Sarc. I can see the blank expressions in people’s eyes when I tell them about my disease. It’s not something you hear about a lot (only 1 in 10,000 people get this disease). In simple terms, it causes tiny lumps (granulomas) to develop throughout your body, in your organs: heart, kidney, skin, brain – it can be found it anywhere, but most people get it in their lungs. When you have lots of granulomas in one place, it affects how the organ works. Dr Google reveals some fairly alarming stats, including the fact that the actor Bernie Mac reportedly died from the disease, and firefighters who were at Ground Zero have been diagnosed with it. Yet no one really knows what causes it – whether it’s environmental factors, or hereditary. The only thing they do know for certain is that it’s absolutely not contagious, and that it’s most prevalent in people from African-American, Scandinavian and Irish backgrounds. My maternal grandparents were Irish.

Of course, when you’re a mum, you can’t really be ill; you have to try and get on with things, and hold it together somehow. So even though I had days where it took every fibre of my being just to get out of bed, make breakfast for my son and go to work to keep a roof over our heads, I always kept going. I’m very lucky to have supportive family living close by.

My sarcoid is in my lungs, but the snowflake effect means that different symptoms can occur at any time. I’ve lost count of the number of scans, blood tests and x-rays I’ve been given since my diagnosis. The only real treatment offered for sarcoid is steroids; the last thing I want is to blow up like a balloon, so I’m resisting all attempts to put me on these, and I’m trying to live as healthily as possible. Gradually, my initial symptoms subsided, although the cough returns from time to time, particularly when it’s cold. But the latest development is that I have osteoarthritis, as a direct result of the sarc. Some days I’m in a lot of pain, and sometimes none at all.

purple_awareness_ribbonSo, 20 months after my initial diagnosis, that’s where I’m at. I don’t know why it’s taken me so long to blog about this; I’m not ashamed of having this disease, I don’t feel as though I have to hide it, you can’t tell by looking at me that there’s anything different, I don’t think. And I never forget that it could be so much worse. Travel insurance is a little more expensive than it would have been, but apart from that, for the moment at least, it doesn’t have a hugely negative impact on my life. I guess though the not knowing what will happen is the worst thing. Like a snowflake, it’s impossible to predict what pattern it will take.

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  • Trish December 11, 2013 at 3:39 pm

    Goodness, what a worry this must have been for you, Liz. It must have been a relief in some respects to get a diagnosis and start dealing with it.
    Let’s hope, with the medical support you are receiving, you can keep the condition under control. Hope the osteoarthritis is kept at bay too. xx

  • gigi Eligoloff December 9, 2013 at 8:16 pm

    Sorry to hear about the diagnosis Liz, it sounds frightening, painful and very, very stressful. And I hope blogging about it will help, I’m sure it will, writing about things that matter is always helpful I think, whether they are very personal, or something global that you deeply care about….you write beautifully, but also quite matter of fact about it actually – like many people dealing with various issues I guess it soon becomes a just one more part of your life. So, I’m very very glad the other parts of your life are so full and fabulous. Have a wonderful Christmas lovely, and sending you a big hug missus. Gigixxx

  • Erica December 9, 2013 at 7:22 am

    I’m not surprised you haven’t blogged about, it sounds like you might end up dealing with it how I deal with my crohns – when it’s bad, I deal with it – when it’s not, I aim to be so normal that no one would know. Subtle adjustments over the years have helped me cope with it, I get more tired more quickly for example – but you find ways and it soon becomes your new normal. I hope it will be the same for you. x