Inaugural PNH Patient and Family Conference 2016
I live with the ultra rare bone marrow disorder paroxysmal nocturnal haemoglobinuria (PNH). Between 1 and 9 people per million have PNH. In 2015, I formed a support charity (PNH Support) for patients, their families and carers living with this disease in England, Wales and Northern Ireland. On 25 June 2016, we are holding our first event, a one day conference in London for patients and their families to hear from national experts about recent developments and meet others to share experiences.
I was diagnosed with PNH almost 20 years ago. It took about 3 years to diagnose which is still relatively quick for a rare disease. At the time, there was no treatment or cure and certainly no other patients for me to meet or talk to. As a result, I pretty much ignored the fact that I had PNH. PNH, like so many rare diseases, is practically invisible…my permanent jaundice was often mistaken for a ski tan! Life is very different now. I am very lucky. In fact, I have been given my life back. In 2013, I qualified for a drug which (in my case) took away all my symptoms as well as the constant threat of blood clots. This transformation in my quality of life unsurprisingly changed my priorities. I established a patient led support group for those living with PNH in England, Wales and Northern Ireland (www.pnhuk.org). Although we are in the privileged position of having access to a drug therapy, our community needed an independent platform from which to engage with the relevant stakeholders in our world, for example, drug companies developing new therapies, NHS England (who commission the highly specialised service from which we benefit), NICE and international PNH patient groups. More importantly, we needed a way to contact other patients who know what we have been through and with whom we can share experiences. Feeling like you are the only person in the world battling a rare disease is very lonely. On Saturday 25 June 2016, we are very excited to be holding our inaugural patient and family conference near to Kings Cross station in London where we will hear from our national experts on recent developments in the disease, reserach and new treatments which are being developed. We also hope to have some more person- centred sessions around more holistic topics and of course there will be plenty of time to mingle, talk and feel less alone. If you or someone in your family is living with PNH please contact us on firstname.lastname@example.org. We would love to hear from you. We hope this event will be the first of many to come.