In 2009, I gave birth to my third child and within months of her birth I became very ill with what I initially considered to be a stomach bug. However, as the weeks continued and I didn't get better I sought my doctor for answers. A blood test was run, common issues were ruled out and the doctor quickly decided nothing was wrong - I just had an irritable bowel.
Six months later, as I was just learning to live with ongoing stomach aches with no treatment, my lungs caused me distress. I didn't have to be doing anything to bring it on, and it would feel like a clamp gripped my chest, I'd struggle to breathe, I'd become dizzy. I recall one day I ended up on the floor beside my daughter's highchair, one hand holding her in place as I knelt there trying to breathe and being unable to call for help. These events could occur and last for a short or long time.
Once more I went back to the doctor. I knew something was wrong and I was terrified at being so sick and not knowing why. Initially, the doctor sent me for more blood tests, considered asthma, ran a few other tests and a chest x-ray. Still no answers. This was incredibly frustrating for me. The doctors stopped listening to me, started brushing aside my concerns and the hospital refused to run any further tests.
I thought I was going crazy. I was a stay at home mum of three children under five, they relied on me to look after them and I struggled to do more than feed and change them, they ate finger food easily prepared and we watched movies because that was the best I could do back then with no support for what was wrong with me.
By the end of 2010, a family member who’d endured years of heart problems was diagnosed with Fabry Disease. By May 2011, I had the same diagnosis and a doctor who understood and believed my problems and explained they were normal for someone with Fabry Disease. By 2012 the nerve pain had started, random episodes of pain occurred in my hands and within three years extended to my feet and started causing significant problems to my daily life.
In some ways I'm lucky, I'm not alone in my family with Fabry Disease, being X chromosome linked and inherited it affects four generations and half of my extended family. I share medications and symptoms with others. But it is progressive and as the years pass, the medications for symptom control increase.
I now live with my children and my sister who helps manage the household and makes solo parenting a lot less solo. My nearby parents understand my symptoms, and the toll they take on me which I'm grateful for, things like fatigue can be hard to explain. I'm open about my condition, even though it's invisible to people I meet, I'll explain a brief summary so there is understanding in the community around me.
I run out of breath quicker than others, pain radiates along my arms to my hands and in my feet, I have circulation problems, insomnia, mental health issues and gum issues caused by the medications I have to take. I'm on medication for my kidneys and headaches, the melatonin I take for sleep aid I have to fund myself.
I can't work full time and require flexibility for even part-time hours in paid work; my children are my primary job, they are the priority when I decide how to spend my energy. I've managed to complete a Level 7 Diploma via extramural study, and I've found enjoyment in volunteering and working in community areas where I can help others. If only I could do more.
What I wish for, to make life easier, would be for better funding and understanding of the real cost living with a rare disease has. Doctor visits (GP, specialists, hospital testing, pharmacy, travel), items at home to make life easier, there are many things overlooked by others but definitely felt by the sufferers and they quickly add up. Gaining help in New Zealand can be a hard process, I fill in more forms and repeat myself repeatedly, I feel sorry for GPs who have to repeat paperwork, for sufferers who have to jump through hoops on top of being sick and dealing with their everyday complications. We're not one size fits all and at times it can feel very much like we're being squashed into a box we don't fit.
I would like it if available treatments were funded in New Zealand, so I could do more than just manage symptoms as they advance, so my son has a better future ahead of him. It is difficult to know treatment exists but our government holds them out of reach because it's been decided here the treatment don't show the level of result they want, despite the fact that the treatments do work and have proven effective internationally. I'm not just a number on a page, I'm human, so is my family. This doesn't just affect those of us with the condition, but everyone around us as well.
The impact on my life has been massive, my lifestyle has been modified, I don't have the energy I'd like to have, but I do my best to make the most of the energy I do. I focus on what I can do. I take it easy when pain reminds me of my limitations, and enjoy the life I have. I know many people are suffering, and I know many won't speak up, don't want to be a burden, but we didn't ask for these diseases and conditions, and I believe we deserve the same respect as anyone else receives, that we shouldn't have to fight to get available treatments funded.