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Meet the mum and her boys who won't let rare condition get in the way of their lives

THIS Dublin woman has a rare life-threatening condition that causes her throat and face to swell up.

Bettina Carty, from Malahide, spent years of her childhood in agony as doctors puzzled over a diagnosis of her condition – Hereditary Angioedema (HAE).

At one point her face, including her lips and eyes, swelled up so much that one doctor queried if she was a victim of domestic abuse.

Bettina's three sons now also have the condition.

It is estimated there are just 40 people living with it in Ireland and just 10,000 in Europe.

Bettina (42) said that it took years before a proper diagnosis.

"I went from doctor to hospital, they did allergy testing," she told the Herald.

"It was actually like the elephant man. My face could become totally deformed – my lips would be so swollen they would touch my nose, my eyes were swollen so much you could barely see my eyelashes."

NORMAL

Bettina said that it could happen several times a year – and intensified when she hit puberty.

"It looks like anaphylactic shock and doctors tried to treat it with antihistamine," she said.

"It was through a GP in Malahide that happened to be talking to another doctor and suggested I get tested in Sir Patrick Dun's Hospital.

"Two weeks later it came back that I had HAE. Nobody had heard of it before – that was before the internet."

However, despite the grim diagnosis, the mum-of-three said she never let it get in her way of leading a normal life.

"It can be very frightening but because I have grown up with it, I have tried to have a positive outlook on it," she said.

"When I get abdominal swelling I go to the hospital and get an injection.

"I still did the year in Australia, the girly holidays, I just make sure I have the medication with me – a drug called danazol which is a steroid.

"It works for me, but it is not for everyone.

"If I have to get dental work done or anything major, I need to get a blood product injection because my throat could swell and that could kill you."

And Bettina and her husband Aidan have also made sure that their children – Nathan (8) and twins Caleb and Jacob (7) – lead a normal life.

They regularly get attacks of abdominal swelling which causes severe cramps and vomiting, which can be brought on by anything from stress to extreme exercise.

Bettina describes these cramps as similar to labour pains and it is impossible to keep anything down, including water.

"It is very hard not to wrap them up in cotton wool," she said.

"But you need to let them go. I just make sure whoever they are with knows what to do.

"I don't want them to feel they can't do something. They go swimming every week, they play judo and attend drama and music.

"We just try to encourage them that they are not different to other kids," she added.

The Dublin mum told her story to raise awareness of the condition and to urge others to ask for a simple blood test, if they feel they are suffering from the condition.

For more information, log on to www.haeday.org/home.

clairemurphy@herald.ie


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