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 of my parents, creating a nasty double gene combo responsible for the toxic levels of iron that had been silently damaging my body over the years.
High levels of iron, if untreated causes significant damage to bones and organs, including the heart, liver and pancreas. Many go undiagnosed for many years and as a result, suffer significant health problems, and unfortunately, many have lost their lives as a result.
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.
I was devastated to learn there was no cure and I’d need lifelong scans and treatment. However, having an answer was a weight lifted and finally, a way forward. There was treatment and support 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 has not loaded and although she has symptoms, she and her daughter (who too, will have inherited one of the genes) will always be supported and cared for, as a result, they will never suffer the way I 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 is thanks to Haemachromatosis UK, the only UK charity dedicated to supporting those with GH and their family, 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, have been exceptional.
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 information and support. They need us to support them, to ensure everyone impacted by GH never has to go through it alone. You can access their website here. If you can donate and support them, please do. Every ounce of it is essential.
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, and once noticed you can then receive what is often life-saving treatment.
What is Genetic Haemachromatosis? Click here to find out.
The past 12 months have been tough, I have felt angry, frustrated, overwhelmed and alone. However, I am grateful for the good days, the top moments and that I now have an explanation and understanding of my body, my health and my future.
Can’t keep a Wrexham lass down, lads.
For help and advice please contact Haemachromatosis UK below.
Haemachromatosis UK helpline: 03030 401 102 (weekdays Noon-3pm)
Email Advice Line: firstname.lastname@example.org (24×7)
Employers’ Advice Line: 0303 040 1104 (weekdays Noon-3pm)