A Glimpse Of What It’s Like To Live With The Rare Swelling Disorder “Hereditary Angioedema”

The fear of a swelling attack is very real.


Yamkela Mdaka |

With just under 100 patients with a confirmed diagnosis in South Africa, it’s very possible that you’ve never heard of hereditary angioedema (HAE). But it can take an average of 13 years for a patient to receive the right diagnosis and treatment, which is why awareness around the disorder is vital.

What exactly is HAE?

“HAE is a rare genetic disorder that causes swelling to various parts of the body, and can be fatal when the swelling affects the throat due to the risk of suffocation,” Henrik Booysen, Executive Vice President and Chief Operating Officer of HAE International, said in a statement.

“As HAE is a hereditary disorder, it is very important to have other family members tested.”

The disorder is estimated to have a prevalence between 1:50000 and 1:150000 globally. According to the South African Hereditary Angioedema Association, untreated HAE patients can lose up to 150 work days per year and there’s currently no cure for it.

More than 50% of HAE patients will experience at least one swelling attack in their lifetime.

Hana’s story

For Hana Fualds (22), a long family history of HAE ensured her mother was vigilantly watching to see if she would exhibit any symptoms. This led to her diagnosis soon after she turned five.

“In 1999 my grandfather passed away suddenly at the age of 55 and it was only after his passing that they diagnosed him with HAE,” she says. “Following this, my mother and her twin, who had both experienced symptoms throughout their lives, were diagnosed.”

HAE has been a part of Hana’s life for as long as she can remember, and while she can’t think back to how she felt when she was first diagnosed, she does remember how scared she used to be when she experienced the swelling attacks.

 

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“I didn’t know why this was happening or what it was doing to my body. This was hard as a youngster because this isn’t some infectious disease or external factor hurting you, it’s your own body causing this and it was hard to accept as a kid.”

According to Hana, some of the most common symptoms people should look out for include recurrent edema (swelling) in various parts of the body (hands, feet, legs, arms) or the face or throat, and internal swelling episodes in the abdominal area, genitalia or tongue.

These symptoms are often accompanied by extreme fatigue, headaches, abdominal pain, muscle aches, tingling in the skin, nausea and vomiting, diarrhoea, shortness of breath and mood changes.

Self-esteem

Hana admits that navigating her teen years was a self-esteem nightmare. She felt like she was stuck between a rock and a hard place.

“I struggled a lot with my weight… on one hand I wanted to lose weight so badly and on the other, working out would trigger major abdominal swelling, which caused indescribable pain, vomiting and sometimes fainting,” she says. “This combination left me feeling hopeless and hating my body.”

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Being bullied at school didn’t make things any easier. Because the swelling episodes would often make her look disfigured, especially when it happened on her face, Hana would skip school, not only because of how ashamed she felt – but also because she was terrified of how her co-students would treat her.

 

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Even though it’s taken pretty much her entire life up until now to stay positive, she says it took years for her to regain her self-esteem and self-love.

“I taught myself to shift my mindset and change the way I viewed myself, my body and HAE,” Hana says triumphantly. “I did things that I loved and things that made me happy; I started to talk about my HAE to my friends, and I started to be kinder to myself.”

Her new perspective helped her realise how strong her body was for constantly fighting through the attacks and recovering ‘again, again and again’.

“I came across the slogan of the Polish HAE patient organisation which says ‘Piecknię Puchnę’ which means ‘swell beautifully’, and that’s something I always say to myself when I experience painful swelling attacks.”

Treatment

She doesn’t believe that access to HAE medication is where it’s supposed to be in South Africa. Many South Africans, including herself, have had to go through severe and sometimes life-threatening attacks with no treatment. But she’s just started on something that’s sparked some hope and has improved the quality of her life.

 

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“I recently started a clinical trial for a potential prophylaxis treatment,” she says. “This treatment has changed my life for the past two years. I used to be in hospital at least every month with severe attacks and milder attacks happening almost weekly; now I have half the number of attacks and haven’t had severe attacks in months.”

What she wants us to do

Hana says that while HAE may be very rare, it is a very serious condition.

“This is not a small allergy that causes funny swelling – there are still people who could lose their life due to a misdiagnosis or lack of treatment,” she says.

“Please help spread awareness where you can, get involved and ask questions if you are interested… we love sharing our HAE stories.”

Inspired by her journey with HAE, Hana went on to study genetics and medical biochemistry and hopes to continue her research in HAE and other rare diseases through her master’s degree.

Find out more about this rare condition here.

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