10 Things You Didn’t Know About Living With a Rare Disease

1) For Rare Disease Day 2015 I wanted to tell you about my rare disease which is called Cyclical Neutropenia. This is a disorder of the immune system which affects the white blood cells (neutrophils) and I’ve had it for 17 years, since the age of 26. I don’t make enough neutrophils to fight bacterial infections and without treatment, a relatively minor infection such as a sore throat could become fatal within 48 hours. Doctors have not been able to explain why I got it. I will have to live with the condition for the rest of my life.

2) The condition affects one in a million people worldwide.

3) I have to take an injection called GCSF every week which boosts my neutrophil count but causes unbearable side effects. Ironically, I find the treatment and the discipline of having to take it to be the worst part of the illness. Once I’ve injected, I’m very ill for two days so I can only have it at the weekends otherwise it would interfere with work. However, the consequences of not taking it are unthinkable. Before GCSF, people with Neutropenia had very little quality of life, were frequently hospitalised with major infections and often died.

4) The fact that this illness is invisible as well as rare is also very difficult to cope with. No-one has ever heard of it and that includes doctors. Nobody knows how to help me and that includes doctors. All the developments in managing my illness have been on the back of my own research and efforts. It might surprise you to know that I would gladly swap it for a worse, more high profile illness to get better support, treatment, awareness and understanding. I would also prefer to look more sick than I do and for the illness to manifest itself in some sort of obvious physical disability. Neutropenia has wrecked devastation on my life, but all I hear is that I’m ‘looking well’.

5) My life is a strange and inconsistent mix of living and being sick. I’m not completely in control of when I can work, see friends and family, clean my house and chip away at my writing goals. I’ve had to accept reducing my hours at work, earning less money, never having the house the way I want it and hoping people won’t mind if I cancel meeting them or cancel attending an important event yet again. Having said that, the times when I feel well are lived to the full. I love and appreciate every single little thing I’m able to do because tomorrow I might be sick or have to take GCSF.

6) I’m eternally grateful for internet support groups, particularly the UK Neutropenia Facebook group. I did the first few years of my illness without any groups like this and it was hard going. Neutropenia is a lonely illness. It’s amazing that now I can just go online and chat with people about what I’m going through. I’m also thankful to the group’s founders for their tireless efforts to raise awareness of the condition.

7) One thing I definitely didn’t realise when I first got diagnosed is that I’d still have to deal with all the other difficulties of life as well as Neutropenia. There are no concessions when it comes to break-ups, bills, work stress or death. You still have to deal with them even if you’re sick. I’ve learned now that if something major is happening then everything else has to take a back seat. I get through most things with a mix of painkillers, caffeine, adrenaline and willpower. I also pray every night that life won’t throw any new negative life events at me and ask that if it does, I will find the resources to get through it.

8) Having Neutropenia has sent me to the edge of despair but it has also taught me patience, determination and tenacity. Despite the overwhelmingly negative influence it has on my life, it hasn’t stopped me doing what I want. I’ve had to adjust my expectations of how and when I can do things but as long as I don’t set goals that are too unrealistic, I can make progress.

9) Having Neutropenia has also taught me to look after myself emotionally, mentally and physically. I wasn’t very good at this before. It’s taught me to take responsibility for my diet, lifestyle and wellbeing because the consequences of not doing so can make my illness a lot worse. I’ve realised I can’t be everything to everyone anymore. Anyone who brings negativity into my life can now see themselves out via the back door. Now my life is full of good food, lots of rest and people I love to spend time with when my health allows.

10) There is a 50% chance that if I had children they would have Cyclial Neutropenia. There are many reasons why I’ve chosen not to have kids and this is high up among the reasons. I’ve struggled so much with this illness that I couldn’t inflict it on a child. Even if they were healthy, I don’t want to be a sick Mum. I could only entertain the idea of being a parent if I was able to do it to the best of my ability. I know other people with Neutropenia who have kids but it’s not the right thing for me. I’m happy with my decision but if I didn’t have this illness, there is a good chance that things could have been different.

To find out more about Rare Disease Day 2015 and hear other people’s stories of living with rare illness, head over to http://www.rarediseaseday.org

Check out more of Laura’s blog by heading to https://laurajaneroche.wordpress.com/

Laura Roche is a writer, mental health blogger and Achievement Coach. She loves to connect with people through the power of words and believes passionately in the healing power of cake. You can read more of her work on her website laurajaneroche, view her video blogs on YouTube at Laura Roche, or follow her on twitter @flyingkipper.

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