Sian Harding was seven years old when it was discovered that she had a rare genetic disease called hereditary angioedema (HAE).
A lifelong condition, it is associated with prevalent attacks of swelling, which are unpredictable and can lead to isolation, anxiety and mental health challenges.
Dr Padmalal Gurugama at the HAE Clinic. Picture: Keith Heppell
Sian’s diagnosis came in traumatic fashion.
“The swelling was so bad, they had to cut my hand out of a trolley in B&Q,” she recalls.
Such tissue swellings can last from one to five days and can occur on any part of the body. The swellings are unresponsive to antihistamines, adrenalin and steroids, and urgent specialised treatment is needed – especially with swellings in the face, which cause temporary blindness, or airway swelling, which can be life-threatening.
From the moment of her diagnosis, Sian’s life changed dramatically. The initial shock and uncertainty were overwhelming, but Sian refused to let the condition define her. With the support of family, friends and, importantly, dedicated healthcare professionals, Sian embarked on a journey to reclaim her life.
Key to that has been the Cambridge HAE Family Clinic at Addenbrooke’s Hospital in Cambridge.
It offers world-class specialised care for those living with this rare disease, which affects 1,500 people in the UK.
Sian Harding who suffers from HAE in clinic 2a with Dr Padmalal Gurugama Consultant in Clinical Immunology and Allergy is her specialist doctor, . Picture: Keith Heppell
Cambridge’s HAE service is co-led by Dr Padmalal Gurugama, a consultant in clinical immunology and allergy at Cambridge University Hospitals NHS Foundation Trust.
Addenbrooke’s and Dr Gurugama are setting the standard for HAE treatments with an innovative approach to care for people living with this rare disease.
The clinic was established in September 2017 to provide care for patients and their support network, including spouses/partners, children and parents. Since launch, the clinic has treated a growing number of patients, from 78 patients in 2022 and 130 so far this year.
The core team is co-led by Dr Gurugama and Dr Ania Manson, a consultant immunologist within the Department of Clinical Immunology at Addenbrooke’s. The clinic’s roster also features Dr Catherine O’Sullivan, a paediatric immunologist and trustee at CamRARE (Cambridge Rare Disease Network) and three SpRs (specialist registrars) along with three specialist nurses, one research practitioner and two healthcare assistants.
The Cambridge HAE clinic aims to take a 360-degree view of the disease, factoring in work, family, domestic and personal aspects of handling the flare-ups and periods in between. They are perhaps fortunate to have Dr Gurugama – a doctor driven to improve the quality of life for rare disease sufferers – on board.
Dr Padmalal Gurugama talks about notes with Kayleigh Atkinson at the HAE Clinic. Picture: Keith Heppell
“I have always been fascinated by cellular and molecular pathways and their abnormal behaviour that lead to distinct clinical outcomes,” says Dr Gurugama of his own determination to make a difference.
“Hereditary angioedema is a fine example of this nature which enables us to achieve complete control of the disease with modern effective and targeted therapies. The deep understanding of science behind HAE pathophysiology have paved the way for its successful expansion of therapeutic options. I am delighted to be part of this story that has transformed patients and their families lives.”
The team of 12 now provides a face-to-face service once a month.
“My work at the Cambridge HAE Family Clinic is the most satisfying thing I do,” Dr Gurugama told the Cambridge Independent, adding: “The treatment landscape has changed and is changing so fast, in terms of HAE and other rare diseases.”
There are two modes of treatments for HAE: preventative therapy and on-demand therapy. The prevention of HAE attacks include oral capsules, injections or infusions. For on-demand therapy for acute attacks there are injections available for patients. The key, says Dr Gurugama, is shared decision-making.
HAE sufferer Matthew Wells
“Healthcare professionals need to be open and provide the best available care to patients which means getting the patient involved in decision making,” he says. “Doctors know best about the science, but patients know best about what works for them because each patient is unique. Care decisions for HAE and all rare diseases must be appropriate for the patient and be a joint decision with the patient.”
Bolstered by support from the HAE Clinic at Addenbrooke’s, Sian, now 34, has made great progress.
The shift from paediatric to adult care enabled Sian to find her voice and the confidence to discuss treatment options openly with her consultant
“I used to just be told ‘you need this treatment’,” Sian says. “Now, the approach is more joined-up and involves collaboration and understanding of the patient’s wants and needs.
“Great care involves guidance from the clinician who has the expertise, alongside open discussion to ensure it is right for the patient according to their lifestyle and aspirations. Personal and tailored joint care makes a big difference.”
Thanks to the collaborative care, Sian’s HAE is well managed and she no longer faces the obstacles and constant focus on her condition that she once did. She can work, embrace a full social life, travel without anxiety and even explore genetic IVF and look forward to an exciting new chapter in her life with her fiancee.
“My checkups always are great, the team at Addenbrooke’s are what make them great!” says Sian.
Sian Harding who suffers from HAE in clinic 2a with Dr Padmalal Gurugama Consultant in Clinical Immunology and Allergy is her specialist doctor, . Picture: Keith Heppell
“Over the past two years it has always been a pleasure, I have built such a good relationship with the team there, I get great care and feel comfortable with them. I used to just be told ‘you need this treatment’. Now, the approach is more joined up and involves collaboration and understanding of the patient’s wants and needs. Personal and tailored joint care make a big difference.”
It wasn’t always so straightforward.
“Childhood was difficult,” admits Sian. ”However, once I was finally diagnosed, my consultant at the time always tried to encourage me to have as much of a ‘normal’ life as possible, which meant deciding the right treatment for this to happen. We worked on getting my treatment plan in place. Obviously there were up’s and downs however we took a preventative approach rather than a reactive approach. This gave be a better quality of life.
And despite her mum’s fears, Sian has been in the construction industry since school and has worked her way up.
The HAE Clinic at Addenbrooke’s Hospital was established in 2017. Picture: Keith Heppell
Sian’s story is not just about overcoming a medical condition – her story has been a source of inspiration for many, highlighting the importance of resilience, hope and the support of loved ones.
She says she now has the freedom to live life to the full and no longer be burdened and emotionally drained with the relentless toll HAE can bring.
“If I could give a message to any rare disease patient, it would be ‘never see the illness as a problem or an obstacle that is too hard to tackle, learn to overcome, live with it and live your best life. You can still achieve your dreams’,” she says.
Sian is supporting a campaign to raise awareness for rare diseases from the patient charity HAE UK by sharing her journey. Find out more here.