Heather’s story

My name is Heather Hughes. I have Essential Thrombocythemia (ET) with the JAK2 gene mutation. I was diagnosed in February 2016.

I am currently being treated with Interferon & Aspirin. I am a 32-year-old mum of two young children and a small business owner living in the outer suburbs of Sydney. I was living in Queensland when I had my first child and moved down to Sydney half way through my second pregnancy. This move may have saved my life as it was the doctors here in Sydney who referred me to a Haematologist due to abnormal bloodwork – the same abnormal bloodwork which was overlooked time and again in Queensland.

I was diagnosed through a number of blood tests and later confirmed via a Bone Marrow Biopsy.

Initially I was told the basics, then given time to do my own research so that I could ask about anything I wanted to know. My haematologist is very approachable, which I feel is very important, however trying to find a General Practitioner who will even take the time to pronounce Essential Thrombocythemia is another story. I get a lot of my information through facebook support groups. Many people post helpful information and articles, it’s also good to connect with other people going through the same thing.

Looking back, I had some symptoms which were most likely caused by ET – bruising, migraines with vision disturbances, heat intolerance and early pregnancy loss.

At this point in time, I feel I am coping well. I get tired easily, but I guess that could also be from chasing after a toddler and a baby, which I still wake in the night to. I worry about the future and what this disease might do to me, but at the same time I am grateful that I have my tomorrows.

I get to watch my kids grow and I have a very supportive husband and family. In the meantime I try to stay positive, eat healthy, drink lots of water, get plenty of fresh air, sunshine & exercise….hopefully the sleep will come soon.

I recommend anybody who is newly diagnosed to do their own research, find a haematologist you are comfortable with and who you are able to ask questions. Connect with others going through the same thing via social media.

And please don’t read any articles pre-dating 2008 as this information is outdated, there has been so much more research since then & much better patient outcomes.

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