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Our last blog in the build up to Rare Disease Day has been written by Maria Piggin, founder of PNH Support. Paroxysmal Nocturnal Haemoglobinuria (PNH) is a rare blood disorder where the bone marrow produces blood cells without their usual protein sheath. This results in part of the immune system attacking blood cells, because it thinks they are foreign bodies. The breakdown of red cells frees the haemoglobin within the cell, which can lead to serious and sometimes life-threatening consequences including rapid heartbeat, headaches, breathing difficulties, disabling fatigue, difficulty swallowing, and a high risk of thrombosis.

My name is Maria and I live with a rare disease that affects less than 10 people per million. After almost 20 years, I have finally come to embrace, rather than ignore it.

I was diagnosed with Paroxysmal Nocturnal Haemoglobinuria (PNH) in my homeland of New Zealand. 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. PNH, like so many rare diseases, is practically invisible…my permanent jaundice was often mistaken for a ski tan. As a result, I pretty much ignored the fact that I had PNH.

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 suppresses the immune system so it does not attack the blood cells. This (in my case) took away all my symptoms as well as the constant threat of blood clots.

The decision to take the treatment, however, was not without personal toll. The drug is the most expensive in the world, and it is paid for in the UK because of its efficacy. Unfortunately, PNH patients in New Zealand do not currently have access to it, and once you start taking it, you cannot stop without increasing the risks inherent to the disease. My decision effectively exiled me from my homeland for the foreseeable future. Don’t get me wrong; I am not complaining. I know there are hundreds of PNH patients around the world who would give anything to take my place, I am just explaining the whole story.

The resulting transformation in my quality of life has unsurprisingly changed my priorities. It inspired me to do something valuable with my newfound health. I have 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 still needed an independent platform 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.

My ‘leaning in’ to the circumstances of my health began around the time I attended a reception at the Houses of Parliament in Westminster to mark Rare Disease Day 2014. I am a little embarrassed that this was the first year I was aware that Rare Disease Day even existed.

For me, Rare Disease Day makes the invisible more visible. It legitimises those living with numerous invisible diseases, many of which have no treatment, let alone a pathway to diagnosis. It also marks the beginning of another journey.[/two-third][one-third]IMG_7744 (1)IMG_0275PNH Support business card croppedEupati UK photos[/one-third][/row]

What does Rare Disease Day mean to me?

by Libbie Read time to read: 2 min
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