Local woman struggles with rare disease

A NORTHSIDE woman has told of her struggle with a rare disease that has severely affected her family’s quality of life.

Bettina Carty (42), from Malahide, was diagnosed with Hereditary Angioedema (HAE) when she was 15-years-old.

HAE is a rare disease that causes swelling to various parts of the body, resulting in pain and disfiguration.

According to Ms Carty, only around 40 people in Ireland are affected by HAE.

“I was misdiagnosed at an early age with the disease, and it was only correctly identified by chance when I changed to another doctor who was aware of the condition,

? she told Northside People.

“At first I was told I was allergic to something. I had one really bad episode when my face swelled up. The doctors at the hospital asked me had I been beaten up.

“I remember having the disease as a small child. My eyes would close up through swelling and my legs would swell also. Swelling can occur in literally any part of the body. It can affect you both internally and externally.

“It affected me particularly badly when I was pregnant and there were a lot of trips to A&E. It’s an ordeal you have to live with it and work around.

?

Ms Carty is currently trying to raise awareness of the disease, of which very little is known in Ireland.

“The worrying thing is that if someone was rushed in to A&E with the symptoms, they could easily be misdiagnosed,

? she stated.

“At first it might seem like an allergic reaction but it’s not and in my case I had to explain that to the doctors.

?

According to Ms Carty, it’s a condition you are born with it.

“It’s genetic,

? she said.

“There was no previous history of it in my family. I knew that there was a 50 per cent chance of passing it on and now my three boys – Nathan (8) and twins Caleb and Jacob (7) – have it.

“HAE affects everybody differently. When the pain is severe for the children, it usually lasts around six hours, but with myself it can be two to three days.

?

The condition has necessitated regular trips to hospital for Ms Carty and her sons, but it’s something she tries to avoid.

“Both schools in Malahide where the boys attend are great and the teachers are very understanding,

? she stated.

“I really try to minimise the time they miss at school and don’t bring them to A&E unless it’s absolutely necessary.

“The boys are into sports such as judo and swimming, and we try to make life as normal as possible for them.

“You have to be sensible, though, about how you deal with it.

“A cold or flu can bring it on as well as being overtired or stressed. With the boys, I’m trying to find their triggers. One of them is prone to getting severe internal swelling.

“So far we haven’t had major episodes with them but that could all change when they hit puberty and we have to be prepared for that.

“Because the symptoms can come on at any time, we are always on tenterhooks and we have to be near the schools in case something happens. It’s difficult and it does affect your quality of life.

?

Ms Carty said her major fear for her sons and herself is throat swelling.

“This is the most dangerous aspect of the disease because if your throat closes up and the airways become blocked it can be life threatening,

? she explained.

“If the swelling occurs anywhere else in the body, it can be dealt with. A young woman in the US died when the swelling occurred in her throat.

?

HAE Day took place in the UK on May 16 and its aim was to drive awareness of the condition. It is hoped that with early diagnosis it will stop years of painful suffering for those who have HAE in Ireland and the UK.

Ms Carty said the internet has been a great tool in helping her family cope with HAE.

“It’s all about sharing information and making people aware of the illness,

? she added.

“Anything I’ve learned about the condition has been through the internet. It’s a great resource for keeping up with new developments.

?

For more information on HAE, visit www.haeday.org.