This week’s blog is guest written by Robyn Silverton, a holistic therapist and trained physiotherapist who also has the rare condition of PK deficiency, a hemolytic anaemia of which there are 1 in 200,000 patients worldwide. Below Robyn shares some of her story and what keeps her positive in the face of the challenges associated with having a rare disease:

What were your first memories of knowing something was a bit different for you?

My first memory of early hospital visits is probably from when I was under 5 years old, and I remember having to go to The London Hospital but being sick on the journey as I was scared; The smells in the clinic still stays with me today although it is 50 years on!

There weren’t any special compensations for children, so I remember often being in the clinic for a few hours. Blood tests were the worst, I struggled and the phlebotomist struggled too! The treat was being taken out to lunch with my parents, and there was lots of talk about the need for me to be brave.

What was your most recent encounter with symptoms from your disease?

Two years ago I went from being well to very sick in 48 hours, it was touch and go for another 48 to 72 hours when on high dependency in a medical ward in Sydney, Australia. This hasn’t been fully diagnosed but it looked like severe pneumonia-like chest infection from an unknown source. It required lots of blood transfusions, oxygen therapy and IV antibiotic cocktails.

Have you had any other episodes of life-threatening illness?

At 21 when I was doing my finals as a physiotherapist, I suddenly dropped into cardiac failure due to a hemolytic crisis – this meant that my spleen was out of control and devouring red blood cells at too fast a rate. I was admitted to hospital and had to get transfused until I was well enough to have splenectomy. A few weeks in hospital was needed!

 What are the biggest challenges to deal with?

At a physical level, not being able to access sufficient energy and the frustration of that deteriorating as I age is a big challenge. I have also found that accepting that my body and its future is hugely compromised by having had 3 organs removed and 20 + blood transfusions is another challenge. It particularly affects my energy levels and I experience a dullness in the head/mind that comes with chronic energy/lethargic issues and it is SO unexplainable.

However as I still look very well and vibrant, people just don’t get that anything could be feeling so wrong. People will frequently comment on my yellow skin and use it as a scale of judging how well I am. But to balance this, there is a  voice that doesn’t allow those frustrations as I could always be much worse off – so I continue to be brave.

Have there been any positives in this journey?

Yes, for me there has. I chose a career in health as a physiotherapist but for over 25 years I have explored the holistic model of wellness and brought to it an understanding and empathy that comes from experiencing fear, pain, limitations and frustration myself.

I live very much for the moment, particularly in the last two years as I know being alive is a gift and at some level always have. I have never really taken life for granted because it is hard work for my body.

Is there one final thought you might like to share?

Even when I feel completely floored by my energy system I can choose to nurture myself, surrender to that feeling and allow for a sense of just relaxed being. As I have cultivated that after years of fighting it and seeing it as weakness I have got back in the driving seat of my health journey. I am delighted to say that even my specialist is surprised at how I am managing, the test results look pretty dire apparently! But I like to think that is what we rare disease people do, isn’t it? We are spirited and we aim to surprise and surpass all expectation that comes with our diagnosis. We are so much more than our story. 

You can watch Robyn talking about her experiences below.