The patient perspective: UK and Kenya

Prof Danny Cohn introduced the next session, dedicated to giving healthcare professionals first-hand experience of what life is like for people with HAE. The speakers were: Patricia Karani, HAEi RPA for Sub Sahara Africa and an HAE patient from Kenya, and HAEi Board Member and UK-based HAE patient, Rachel Annals. Debs Corcoran, HAEi Director of Research, facilitated the discussion.

Debs asked Rachel and Patricia for their memories of the first time they knew that something wasn’t right.

Patricia remembered regular swellings, but, as a young child of 8, it was put down to youthful bumps and scrapes. She also knew that she got swellings like her grandmother, father, and two brothers, but no one knew why.

For Rachel, her memories of swellings start earlier than Patricia’s. She recalls being sick a lot. Her earliest memories also involved getting swellings in her hands and feet. She said she missed a lot of school and felt very different from her friends. She was self-conscious and would try to hide her swellings with bandages. Sometimes her feet were so swollen she couldn’t wear shoes.

The next question was about medical help. Patricia said that when she was at boarding school, there was a nurse. But the nurse wasn’t happy to treat Patrica’s swellings, so her parents often had to come and take her to the hospital in the middle of the night. The doctors she met didn’t know what to do about the swellings, which made her think that they might kill her. She had a throat swelling which almost led to her being intubated (a tube inserted into the windpipe to aid breathing).

Rachel recalls going undiagnosed for 13 years and seeing so many different doctors. The most common suggestions for a cause were allergies or migraine. She tried special diets to eliminate allergies. She hated feeling different and waiting for answers. When the diagnosis came, it was at the end of a private clinic appointment her parents arranged and paid for. The doctor suggested HAE almost as an afterthought. Following a blood test, HAE was confirmed.

For Patricia, it was a similar chance encounter. At a hospital visit, a doctor knew what Patricia had. Sadly, his advice was that there is no cure and no medication. From diagnosis to despair in a sentence, but for Patricia, it was just a relief to have an answer.

Rachel shared the sense of relief. She said she didn’t even care what treatment she had; just to feel normal again was her goal. Steroid medications kept her attacks under control and literally changed her life.

With a diagnosis also came the opportunity for family screening. Rachel’s father and grandmother tested positive for HAE. Even a great-grandmother was diagnosed with the disease after a lifetime of swellings.

Patricia’s route to treatment was more challenging. A brother in the US also received a diagnosis of HAE. He received medication, and this motivated Patricia to seek help. She eventually found Dr Priya Bowry, who handled her case, and had the relevant tests performed, which confirmed HAE. She received the prophylactic medication available at the time. She felt more positive and no longer feared that HAE could kill her.

In closing, Debs asked both Patricia and Rachel what they’d like doctors to know.

• Patricia wanted all the doctors present to know that not all swellings are histamine-related. ‘Keep HAE in mind if antihistamines aren’t working,’ she said.
• Rachel told the audience that her message would be that every HAE patient is different. Each patient needs to be given time to be listened to and understood. ‘We want our experiences to be taken seriously, so that each of us can choose the medication that best fits their life,’ she said.