Mum with rare swelling condition says new drug changed her life

Nicky Bowen has a genetic disorder so rare she says it has often baffled doctors.

Hereditary angioedema (HAE), which affects around 1,500 people in the UK, causes her to suffer unpredictable swelling attacks every seven to 10 days.

After being diagnosed at the age of four when her feet suddenly wouldn’t fit into her shoes, the condition really began impacting Nicky’s life when she was 12 or 13 as puberty started.

During her teen years, it began with swelling attacks on her stomach which would often lead to 24 hours of vomiting, followed by days of rolling around in pain.

"From the age of 13 I would have that every couple of months," said the 49-year-old, from Newport, who is an emergency services worker in Staffordshire.

As she navigated life into adulthood, the condition began affecting other parts of her body.

"It can be my eyes, nose, mouth, all the way down to my feet," she said.

"My dad got diagnosed with it in his 20s. I don't ever remember not having the illness.

"It can be anything to do with life that can set me off. I can be worried and it affects me, or excited and looking forward to something, or just knock into something."

The mum-of-two, whose daughter has also inherited the condition, tried all sorts of different treatments but says many of them had bad side effects.

A few years ago, she began a trial for a drug called Orladeyo in an attempt to help change the future for her grandchildren should they ever be diagnosed with HAE, and says it has completely changed her quality of life.

Now, her attacks are very mild and the drug has recently been approved by the National Institute for Health and Care Excellence (NICE), becoming the first and only oral prophylactic therapy to treat patients with the condition.

Unlike other drugs, this one will be used to prevent attacks rather than treat them.

Nicky, who took part in the trial at Birmingham Heartlands Hospital, said: "It has made my attacks less severe.

"They still happen but are mild, it tends to be on my arms or legs.

"My daughter has the illness but my son doesn't. She's every seven days and it's predominantly in her stomach, but she will be going onto Orladeyo in January."

The extra proof she needed was given to her in August when there was a supply chain issue which meant she went a couple of weeks without the drug.

A week later she was virtually back to square one in terms of the attacks.

Nicky added: "It's definitely giving me a better quality of life."

HAE affects how the immune system controls inflammation.

Patients with HAE have a deficiency or dysfunction in the C1-esterase inhibitor (C1-INH), a protein that plays a central role in the immune system.

Abnormal levels of functional C1-INH in the blood results in excessive amounts of the inflammatory protein bradykinin.

The frequency of attacks can vary from once or twice a year to every few days in the most severely affected patients.