It Doesn’t Really Matter

Without knowing it, I had been living with an uninvited menace in my body for some years.

In 2010 my partner and I decided to provide a mouth swab to a DNA company to try and ascertain some interesting information about our respective heritage. Over the following years we received reports periodically which gave us greater insights into our families history and origins.

In June 2014 a report came out from the genetic company, which we logged on and saw in July, that I potential to develop Haemochromatosis and Familial Amyloidosis with Polyneuropathy. My partner, Terri, who is extremely supportive quietly started to research what this meant, asking me if I felt breathless or had carpel tunnel syndrome (CTS) symptoms. After I said I didn’t Terri suggested I discuss it with my General Practioner (GP) at my next medocal appointment.

At the same time Terri was being diagnosed for her own health issues and found out she has Erythromelalgia and Peripheral Neuropathy. Terri came home to show me how the doctor did a quick basic test for CTS and lo and behold it seemed I did have some symptoms after-all, so in August 2014 we made an appointment with our GP.

Our GP had heard about the condition, struck gold there, as when he had interned at a Brisbane hospital they had a family with the hereditary type of Amyloidosis. Our GP then referred us to a heart specialist and a haematologist, the ones my brother had been seeing.

My brother had for some years tried to find out what was wrong with his body. He had visited many doctors and specialists trying to get a diagnosis. He finally found a heart specialist who was aware of his condition and subsequently following a heart biopsy made a formal diagnosis of Hereditary Amyloidosis.

While we waited for these same specialist appointments we thought we could get a genetic test to definitively say it was Amyloidosis, and what type. The cost of this in Australia was then around $600 in Queensland Australia, with a wait and appointment time of six months to see the Geneticist. That put a stop to that as we didn’t want to wait that long.

Terri meanwhile was researching my family connection to County Donegal Ireland, outlined in the genetic report. Terri traced my family back to a known area of County Donegal, later finding newspaper stories online where some of my family members, on my fathers maternal side, having dropped dead in the streets with unknown heart conditions.

Terri and I attended the cardiologist appointment who told us he thought I had the activated condition, and that my father would have had this disease as well. I was soon booked in for a heart biopsy. He told me the results would be back in a few days.

After the biopsy I still went to work, we kept my mum informed, who herself, we realised, had nursed her husband with the condition. We kept family members in the loop as well, expecting the call at any time.

I carried my mobile phone with me day and night, ensuring it was charged and with volume turned up maximum. If you have ever had a similar experience whereby you are waiting on news and it doesn’t come, you know what I’m talking about. After several days padssed I became anxious, tired, somewhat depressed and feeling annoyed. Unfortunately, I transferred some of these feelings, onto my partner which added to her own anxieties. Surely he could just ring me.

I called his office only to be told he is on leave. I could not believe what I was being told. I asked for another doctor, either his Registrar or Locum, to give me the results but was refused. I could only wait till he returned. I can not adequately express my anger and annoyance that a so called medical professional could be so disconnected to my feelings that he could not have called me prior to going on holidays.

Terri, who had been living this journey with me all the way, our partners travel this journey as well, suggested I make contact with my GP as he may have received a report from the Cardiologist. I made an appointment with my GP and received the news that I had been diagnosed formally with Familial Amyloidosis Polyneuropathy with Cardiomyopathy. Further investigations later confirmed how far it had progressed with a (DPD) scan performed under my Haematologist, who did and has kept me in the loop, with the amyloid showing up a lovely bright yellow colour in my heart.

Have you ever known the feeling of not wanting to hear something but at the same time knowing you do want to know the outcome? Well that’s how I felt, pleased that I know what I’m now dealing with but angry that I have to live this new journey which I did not ask for, nor did I do anything to encourage its presence in my body. Along with the added burden of thinking I could have passed this gene onto our children (later found out in 2014/2015 that the children did not have the gene).

Eventually my Cardiologist called me back. I challenged him on not knowing he was going on holidays and that I was not made aware that I had to wait for his return to work to get this call. He replied in a manner of what I describe as the Medical Model and that was with the words
“It Doesn’t Really Matter.” To make matters worse, I realised, he clearly had time to send a report to my GP prior to his holidays, but not to call me – the patient. We have always advocated that the medical model should always be patient centred, and will continue to advocate and educate where possible.

As part of this diagnosis we had some hard decisions to make, with the end result being that we retired several years earlier thnd expected, sold everthing and purchased a van to live in. We haven’t regretted this decission but it can be tricky, at times, not having a home base. Thankfully we have a wonderful set of friends and beasutful family members who take us in.

It Doesn’t Really Matter – Vince – Australia