I inherited a silent, yet deadly genetic condition.
In May 2020, the year that literally brought the world to a standstill, I heard the words – ‘Genetic Haemachromatosis’ for the first time. The most common genetic condition in the UK, GH is an iron overload disorder, which means that my body lacks the ability to regulate iron intake from food, as a result, it builds to toxically high levels.
I am what they call – a C282Y Homozygote. Basically, I inherited a faulty gene from each one of my parents – creating a nasty double gene combo responsible for toxic levels of iron.
High levels of iron cause significant damage to bones and organs, including the heart, liver and pancreas. Many go undiagnosed for years, suffering significant health problems as a result. Unfortunately, many have lost their lives.
For a number of years I had struggled with painful joint issues, cardiac problems, fatigue and abdominal pain. When I got my genetic confirmation in the August of 2020, everything suddenly made sense. The years of pain had an answer.
It’s devastating to learn there’s no cure, and lifelong scans and treatment are needed. However, having an answer is a weight lifted and finally, a way forward. There are effective treatments out there.
Since being diagnosed, my sister was genetically tested and diagnosed with GH, she too, is a C282Y Homozygote. I call us ‘The GOTES’. Thankfully, she and her daughter (who too, will have inherited one of the genes) will always be supported and cared for. They will never suffer the way many have.
You can read my story featured on BBC Wales NEWS by following this link; https://www.bbc.co.uk/news/uk-wales-57242098.amp
It’s thanks to Haemachromatosis UK (HUK) I was able to better understand the condition and come to terms with the changes that inevitably come with a genetic disorder. Their helpline was an incredible source of support for me – run by volunteers who themselves either have GH or family members with the condition.
As a small charity, they campaign tirelessly to better the understanding of GH, train medical professionals, campaign for quicker diagnosis, conduct research and support all who are impacted by GH.
Their website is a brilliant source of easy to digest information and support. You can access their website here.
If you recognise any of the symptoms of GH in yourself; speak to your GP. A simple Iron panel blood test is all it takes to see elevated iron in your blood and body. Once noticed, you can then receive what is often, life-saving treatment.
What is Genetic Haemachromatosis? Click here to find out.
Haemachromatosis UK helpline: 03030 401 102 (weekdays Noon-3pm)
Email Advice Line: email@example.com (24×7)
Employers’ Advice Line: 0303 040 1104 (weekdays Noon-3pm)