A YOUNG woman has told how she was diagnosed with a genetic disorder after struggling with being tired all of the time.
Haemochromatosis, which causes iron to build up in your body over the years, is more common in Ireland than anywhere else in the world.
Aoife Lawlor was diagnosed at just 21[/caption]
She said it was an ‘accidental’ discovery after going to her doctor because of tiredness[/caption]
One in 83 people are at risk of developing it, while one in five carry the gene.
Aoife Lawlor, 28, from Waterford, has been living with the illness for the past eight years.
After suffering with symptoms like chronic fatigue, she was finally diagnosed in 2018 at just 21 years old.
She told the Irish Sun: “My doctor decided to do my ferritin levels [and] they were elevated. Then they did the TSATS which is the next test they do, and if they’re both elevated they recommend a genetic test.”
It’s one of the most common genetic disorders in Ireland, though for Aoife, it wasn’t discovered that way.
She explained: “I know a lot of people who have hemochromatosis were discovered because someone in their family had it.
“That wasn’t my case, I was discovered accidentally [after] having a blood test for a different reason, for tiredness.
“It was a bit different for me because for a lot of people, maybe their parents had it and encouraged their children to get tested but I was kind of the first.”
When Aoife went through the genetic test in 2018, she found that she had two copies of the C282Y gene.
This is a genetic mutation of the HFE gene which is a significant risk factor for hereditary hemochromatosis.
She explained: “If you have two copies of the gene you may be at risk of developing iron overloads, and according to the Irish Hemochromatosis Society, there could be about 20,000 people undiagnosed and not realizing.”
PREMATURE DEATH
It’s vital to get diagnosed early, as left untreated it could lead to a number of issues including iron overload, organ damage and even premature death.
She added: “The iron overload can lead to organ damage or premature death, so really it is good to be tested with just a simple blood test that can basically save your health in the future.
“I was really tired, that was my main symptom, chronic fatigue, and a lot of people say that they get joint pain especially in their knuckles.
“I thankfully haven’t experienced [many more symptoms] from it being caught early, but a lot of people can experience liver disease, type 2 diabetes and cardiomyopathy.”
But despite its prevalence, not many know about it.
Common symptoms usually appear between the ages of 30 and 60, and usually include:
- feeling very tired all the time (fatigue)
- weight loss
- weakness
- joint pain
- not being able to get or keep an erection (erectile dysfunction)
- irregular periods or missing periods
Thanks to Aoife’s early diagnosis, she has been availing of treatment for the past eight years and now works as a civil servant.
She explained: “After I got diagnosed in 2018 I had my rounds of venesections for 2018-2019 and then it came down to maintenance when levels are back to normal.
ASK FOR THE TEST
“Once they’re reestablished, you just get periodic blood tests to make sure they’re still normal, then you maintain it and might only need to have a venesection twice a year depending on who you are and your levels.”
Medical charity The Irish Haemochromatosis Association (IHA) offers support to patients and their family, and have been trying to spread awareness for 25 years.
To achieve an early diagnosis, Aoife, alongside the charity are urging anyone who experiences symptoms to go to their doctor – where a simple blood test to check their iron levels can be carried out.
She explained: “I will always say just ask to get the ferritin test done – I’m not sure if that’s included in routine blood tests but I think it’s worth asking to always get your ferritin and TSATS checked.
“It could open up something you didn’t know about, and [allow you] to have venesections.
“When people are diagnosed older they have all that time they’ve lost when they could have been having venesections and fixing it.
“I’m relatively young to have been diagnosed, and other young people could be diagnosed if they have a family history, if they’re experiencing symptoms like chronic fatigue, just by asking for their ferritin and TSATS to be tested.
“Social media as well – people might be scrolling and say ‘that kind of applies to me, I’m tired and I don’t know why’.”
World Haemochromatosis Awareness Week runs in Ireland from June 1 until June 7, and will see different landmarks lit up in red to spread the word.
