This Fabry Awareness Month we are featuring a range of articles from guest bloggers describing their relationship with Fabry disease. This week, we have Claire O'Meara, who lives with Fabry disease.
When all you want is a diagnosis and all you don’t want is a rare disease
32, young, fun, living life and boom hit by what I can only describe as a tidal wave of fatigue and body pain that came from nowhere.
Had I worked too hard, partied too hard burning the candle at both ends, was I suffering from burnout that then possibly spiralled into depression? GP visit after GP visit and the only answer was antidepressants, rest and a sick note.
Rest made nothing better. I could sleep 16-18 hours and still feel exhausted, I struggled with the cold and aches so bad in my body, was I having growing pains as an adult?
Eventually a year later I was sent to be assessed for Chronic Fatigue and Fibromyalgia, the scariest visit to a hospital in my life at the mental health ward, this was it they thought it was all in my head, I was starting to think that myself at times as nobody could give me any answers so nobody wanted to believe anything was wrong.
The career I loved came to an end, it had to, I'd been in bed for months on end and as much as they had been so supportive, what company can sustain an employee who is never there?
The years seemed to pass and things would get better for a little while then drop off a cliff again, the ups and downs really did take their toll on me mentally and emotionally.
I was losing who I was, I was losing my identity and I was losing friends that couldn’t understand why I never went out any more. At times it was a bitter pill to swallow.
The turning point
I decided I had to take control so signed up to study nutrition and become my own health detective. I wasn’t happy with a vague possibility of it could be, I wanted confirmed answers and to know how I could heal myself. I studied and studied and studied some more, doing it as and when I could online, I became my own case study and I started to turn a corner. I thought I was on to a winner… Turning 40, this was the game changing year, the year I felt great, the year I was going to start my own nutrition business and celebrate all year long with friends and family. It felt great to finally live again, to socialise, to go on a girlie holiday. It was the best year…
Christmas 2019 the crackers certainly came with a bang a sudden clutch of the chest and sweating, pain down my arm and the next thing in A&E hooked up and treated for a heart attack, Troponin levels through the roof and a heart rate so elevated.
2020 a year of cardiac MRI scans, ECGs, blood pressure checks - plus Covid and a whole country in lockdown. Blood test ordered for something my cardiologist suspected in July to only receive the result in October due to the labs being used for Covid testing. A letter in the post confirming my rare disease diagnosis and I was left to Dr Google to explain it to me. The consultants all pulled to different roles and not seeing patients meant it was a long wait, a long Christmas and New year of the unknown and then the official meeting of five consultants in January 2021.
A meeting I had to attend on my own, a meeting of information overload, a meeting of so many long words and the only thing I can remember is asking, “ Am I going to die?” I mean I know we all are at some stage, I meant soon like in the next 5 years or so...the look of we can’t answer that but they could start me on enzyme treatment asap.
I started my enzyme replacement therapy (ERT) in March of 2021. The headaches, fatigue and shivers all kicked in and my veins didn’t seem to want to play ball. I had a nurse coming to the home every fortnight and I was starting to get anxiety every Monday night prior to treatment around my veins not working, the many attempts to cannulate and the stress and pressure the nurses were under to make it happen. A friend who worked in the medical world talked to me about the benefits of having a portacath fitted and explained all the pros and cons and the pros outweigh anything. I knew this was going to be the best option for me..
Little did I know that my health, my rare disease, was about to become my full time battle, to fight for what I needed, what was right for my health.
It took an army and three hospitals for me to finally get the go ahead for someone to take me as their patient for a portacath fitting. I can honestly say that in May 2022 this was my most life-changing result. Treatment is now a dream, I no longer dread it, I no longer get told this is my last attempt or we can’t administer your ERT and it no longer matters if I get a different nurse each time.
Navigating the Health Care system under a variety of different hospitals was a minefield. I was not prepared for having to be a full time administrator ensuring each hospital had the right paperwork and test results and pushing and pushing for scans. I spent a lot of time in A&E and stays in hospital in 2022 with my heart, my enlarged Fabry heart, that likes to skip many a beat, flutter a lot and cause me to be breathless doing the smallest of tasks. The kidneys came into play and chronic kidney disease (CKD) along with a lot of neurological issues and ear problems. The fatigue still hangs around and body pain well, you kind of get used to living in pain. I fought for a plan of attack along with my GP. I am under four different hospitals but seen every three months by cardiology, renal, blood tests as well as working with a private functional medicine practitioner and private neurologist. I research like mad from Australia, America, Canada and beyond to be up on the latest research. I put my own nutritional therapist skills to the test and this year, in 2023, I started my nutrition business - WELL Connected Health - this allows me to work hours that suit me and I always block out treatment days and the day after.
I am right now in a good place, I feel back in control and finding my feet again on living, I have learnt what living with a rare disease means and that's doing things on my terms, advocating for myself and for others with Fabry Disease, I especially bang the drum for females living with Fabry.
When you look at the variety of symptoms of Fabry they cross over into so many other possible health issues or diagnosis.
As a woman you also have to contend with hormonal changes which can really play a big part in living rare, the changes in the body, the symptoms of hormonal changes along with the symptoms of Fabry can be HELL so more research is needed on females with the disease, more conversations around symptoms and more listening from professionals to truly understand the patient - we are humans and we feel. My hope for 2023 is to have a smooth ride with Fabry Claire xx
If you feel moved by Claire's story please share it and help to raise awareness of Fabry disease and what life with Fabry disease is like.
If you need any help or support living your life with Fabry disease please contact Donna, our Support and Advocacy Officer dedicated to supporting people with Fabry disease.
You can read more about Fabry disease and support we offer here.
