On 22nd June 2018 Dr Michelle (k/a Mikhaila) Muscat interviewed Ms Liz Gill, Vice-Chair of the British Porphyria Association (BPA).

Porphyria encompasses diseases where there exist abnormalities in the heme synthesis pathway. There are both cutaneous and acute varieties of porphyria.

The British Porphyria Association is a registered charity which has grown a lot over the years. They provide support and educate people about the effects of porphyria.  Ms Gill stated that around 10% of people on their database were medical contacts with an interest in porphyria and lab professionals involved in the diagnostic pathways. Around 450 were patients or relatives of patients who wish to be kept informed and be part of the support network.

How did you become involved in the British Porphyria Association?

In my late teens I became very unwell and after many months of pain, sickness and paralysis, I was finally diagnosed as suffering from acute porphyria. Although I wasn’t well enough to help out in the early days of the charity’s work, I have always been on the periphery and so when I became more physically able, it was a natural progression for me to step up and help out. I became a trustee in 2005 and then Vice Chairman in 2010.

 

Can you tell me a bit about the origins of the Association?

The BPA was established in 1999 by a group of patients and relatives who had experienced isolation and difficulties due to a general lack of understanding in diagnosing and treating their conditions. The BPA became a registered charity in 2001 and has continued to grow and evolve since then.

 

Do you believe the awareness of porphyria has changed along the years? 

Porphyria awareness has improved over the years, as has the knowledge on how to deal with the condition once diagnosed, but the porphyrias remain rare conditions and, sadly, they are still often missed. We are always keen to keep improving awareness.

 

What was your most rewarding achievement?

The role with the BPA comes with lots of rewarding moments. Sometimes, we manage to direct a patient to the correct place to be tested and the patient obtains a diagnosis. This is very fulfilling, especially when a person may have been struggling for a long time with unidentified symptoms.

 

Another rewarding aspect of being involved with the BPA is seeing the benefit that patients get from finally meeting another person with the same condition, a person who understands them and can share their experiences. They are not alone anymore.

 

Can you tell me a bit about events you organise and how you secure funding?

We generally hold two events a year. During our patient information days, we hear from porphyria specialists about the conditions, about updates on new therapies and potential treatments, as well as hearing patient experiences. We might hear from laboratory specialists, discuss pain management techniques or coping strategies for both sides of the porphyria spectrum. The events are really popular.

 

Funding for our events and for all of our organisation and administration is secured by two main methods: individuals who organise fundraising events or take part in sponsored events such as athletic or endurance events, and, to a lesser extent, sponsorship from drug companies. It is important to mention that the BPA is run largely by a small committee of volunteers. It is only recently that we started to employ an administrator for a few hours each week.

 

Is the association involved in research?

We feel that research is a really important aspect of rare disorders and try to be involved in research as much as possible. We attend the International Conference on Porphyrins and Porphyrias (ICPP) every two years, to learn as much as possible about new advances in the field that we can relay to our members. We have also been involved in helping recruit candidates for research and have even funded a few small pilot studies.

 

What do you envisage in the future for the British Porphyria Association?

We have identified a need to further support young adults and those under 18. This will be a major focus in future years. As always, we will continue to support patients through their porphyria journey and do the best we can to raise awareness and knowledge of all the porphyrias.

 

 

Further information may be found on their website at http://www.porphyria.org.uk/