Rocco Falchetto introduces himself
Since its constitution in 2009, I have been president of the Swiss Society for Porphyria (www.porphyria.ch) and in September 2018 I co-founded and am now the president of the International Porphyria Patient Network, a cross-border group of very engaged porphyria patients with a background in science, medicine and other relevant expertises, committed to safeguarding the interests of porphyria sufferers and to fighting for their right to a normal life.
There are 8 different rare and ultra-rare disorders of heme metabolism, which are collectively known as the porphyrias. I suffer from erythropoietic protoporphyria (EPP), one of these 8 disorders. EPP causes light intolerance and severely painful phototoxic reactions upon exposure to visible light. The disease has dramatically affected the life of my family, with the death of my brother Sandro from liver complications of the disease at the age of 16. I was 9 years old when Sandro died and the traumatic memories of those days are etched in my mind. The numerous excruciatingly painful phototoxic episodes scattered throughout my life have also been traumatic and have significantly conditioned my entire existence, with a difficult childhood and adolescence, and an adulthood full of limitations and resignation…until the year 2006 when afamelanotide changed me by 180 degrees, finally enabling me to savor the taste of a normal life.
I discovered afamelanotide on the Internet when it was still being investigated for other purposes, and in January 2006 I spoke about it with Prof. Dr. Elisabeth Minder, the world-renowned Swiss porphyria specialist, who agreed with me that it had potential in the treatment of EPP. What followed is a spectacular journey, which started in September 2006 with the first ever clinical trial for the treatment of EPP with afamelanotide, led by Prof. Minder and with me and 4 other fellow Swiss EPP’ers as the first patients ever treated with this life-changing medicine.
It is a journey that is still continuing today, years after afamelanotide’s European regulatory marketing approval in 2014, a journey unfortunately full of obstacles and inequities depriving many EPP sufferers of access to the only approved therapy available for their condition. Much of my efforts as a patient advocate are focused around removing these obstacles placed on the path to access to afamelanotide.
I have been through many challenges in this fight for access and many more will lie ahead. But every time I see the sparkle in the eyes of patients who first experience the life-changing effects of afamelanotide, I know that it is a cause worth fighting for. It is a cause that has made me passionate about the inclusion of the patient voice in the lifecycle of medicines and about sharing my story to illustrate the challenges and opportunities with giving patients a stronger voice at the decision makers’ table, so they can live the lives that matter to them!