Decoding Rough Data

We all make mistakes, and we can learn from them. I don’t like to make them if it could severely effect other people, and in this case it could have impacted on two of our children and two of our grandchildren…if I got it wrong.

Seeing the heart specialist in the later part of 2014, and through a genetic company we found out my partner had the Hereditary Amyloidosis hATTRv 60Ala gene, a strain from County Donegal in Ireland.

From there it was a short journey for this to be confirmed by blood tests and a heart biopsy. That journey is for another story. This involves our families genetic test results for Amyloidosis.

The heart specialist suggested that we test our children and grandchildren too, but the genetic company had stopped their health reports for Australia (we still don’t get them). The specialist suggested I still give it a go, but having contacted their head office we were informed that this would not be possible, but no one could stop me from comparing my partner’s rough data (a coded report) with our children’s and grandchildren’s data – YIKES.

We discussed this option with them, and while one son said he would go through the hospital system for testing, the others and one brother decided to do ‘the spit test’ as we called it.

From there it was a short journey for this to be confirmed by blood tests and a heart biopsy. That journey is for another story. This involves our families genetic test results for Amyloidosis.

This was excruciating and wonderful all at once. We would quickly find out if the gene had passed down, but the reading and interpreting component was very worrying.

I didn’t want to know, I just wanted it to all go away! It was worse for my partner as it was the gene we didn’t want them to have.

I’m great in an emergency, I handle even extreme situations well. Then I fall apart for a little while, sometimes for longer.

I saw my father die at age 5 and my mother attempt suicide when I was 13. I was there, in the operating theatre, with our 5 year old son, when the surgeon looked at me to leave and to say that our son may not live through the operation. Surgeons need to be tough, but they could learn when not to speak!

There were other very worrying times with our other children and family, which of course happens to all families.

So, to the data and the spit test was sent for, completed and returned. Then the waiting began. I didn’t sleep well for the next 6 weeks. When the results were online, (and I knew nearly to the hour, as I would check several times a day). I checked my partner’s data on that line against the rough data in the kids, g’kids and my partner’s eldest brother’s. The whole 5 were in the clear, but I was still worried that a mistake might have been made, advocating for the kids and brother to go one step further and have a test, like our eldest son, who thankfully tested clear. We were at Centrelink applying for a health care card when he rang and we both burst into tears when we knew it was 100% clear, and that our little family were not going to have hATTR into future generations.

My partner’s other brother did go through the hospital system in 2015, to have this confirmed officially. Our ‘spit test’ children are having a genetic test to confirm this in the coming weeks (mid 2021), through a hospital referral. This is free in Queensland, but not all states and territories have the same option, which I only found out about last month. It can be hundreds of dollars to find out.
I will be very relieved when the offical word is out about the remainder of our children being in the clear.

Would I do the same thing today? No, it was and is too frightening to do this alone, I should have involved others. What should happen is that the genetic reports should be allowed, once again, into Australia. Additionally all testing should be free in all states and territories, through the health system. And Amyloidosis should be a reportable disease so we know what we’re combatting into the future.

Note: photo includes our 2 children and 2 g’children that went through the genetic test. They have given permission for the photo to be included.

From Left: Dallas, Lachlan, Terri, Michaela, Vince, Carmen & Carmen’s partner Dave

Decoding Rough Data – Terri – Australia