From diagnosis to awareness

I am sure many of you have heard the famous opening line at healthcare events: “There is no healthy person, only an incomplete diagnosis, so we are all patients here”. I always thought that’s a good reminder that we all have skin in the game but frankly, I rarely ever thought about myself as a patient.

…Until I got a request from an organization called FH Europe to join the EFPIA Patient Think Tank.

I had set up a short introductory call with Magdalena Daccord, their very dedicated Chief Executive and we were well into the conversation about industry-patient organisation collaboration, when I realised I should tell her I am also living with FH (familial hypercholesterolemia).

Speaking to Magdalena, I remembered the moment I was diagnosed with FH at the age of 20: the desperation, that distinct feeling that I was so very unlucky that this has happened to me. Why me?! FH is a genetic, inherited disease and had nothing to do with my lifestyle or diet.

Then years have passed, did my yearly check-ups, took my medication regularly (that helps keep my LDL cholesterol to normal levels), I did sports, because that is a good thing in any case, but I didn’t want to think about myself as a patient.

More than 10 years later, I had to realise how exceptionally lucky I was. First of all, because I got diagnosed, early. Secondly, because a treatment option existed and thirdly, because it was not the rare form of the condition.

FH is the most common genetic condition in the world, affecting 1 in 300 persons. It also has a rare form, called homozygous FH. It occurs when a child inherits the same faulty gene from both parents. 9 out of 10 people born with FH are not aware, are not diagnosed, and are not appropriately equipped to manage the condition (appropriate and accessible medication, lifestyle improvements, emotional support for individuals and families, etc.).

FH leads to early atherosclerotic cardiovascular disease (ASCVD), in particular coronary heart disease (CHD). Identifying and treating it early, is vital in preventing CVD. My early diagnosis gave me the chance to keep it under control.

I also realised that there are many things we can do to raise awareness and help others to get diagnosed. In a way I am a patient, a lucky one. I’ll try do my bit to help others by sharing my personal experience and by building better, more meaningful patient organisation and industry collaboration as part of my daily work.

Innovation has to be about patients, and everyone who lives with a disease, however common or rare, deserves the chance for a normal life. 

Follow the “Many Faces, One Heart” campaign to learn about how rare disease patients pursue their dreams and passions despite their condition.

Zsofia Bakonyi

Zsófia Bakonyi is Senior Manager of Partnerships at EFPIA, the European Federation of Pharmaceutical Industries...
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