Kostas – a German of Greek descent, avid chef and voracious scholar – was diagnosed with beta thalassemia major when he was just 18 months old. Growing up with a blood disorder that inhibits the body’s ability to deliver oxygen to cells and requires frequent transfusions at a time when the disease still wasn’t well understood presented challenges, but Kostas worked through the setbacks and charted his own course. Now well into his 40s, he has become an Expert-patient through EUPATI training [European Patients’ Academy on Therapeutic Innovation] and shares his knowledge with pharmaceutical companies, medical professionals and patients to help advance the care of others. He recently shared his experiences with us:

How did you find out you had beta thalassemia?

When I was 18 months old, I got whooping cough. It’s common for children, but I never recovered. That was when my parents realized something was wrong. So, I went to the hospital and they did a lot of tests. I spent a long time there until they finally figured out what I have. And this is where my journey started. I was the first thalassemic in my city, which is not small. It was about 600,000 to 700,000 people, so not a small town.

Your entire family carries the thalassemia gene, but you’re the only one who needs treatment?

Yes. My parents didn't know about thalassemia or that they are both minors [note: people with thalassemia minor frequently don’t have symptoms], so they never got tested for it. I'm the youngest child. My brother and sister, they are also both thalassemia minor. Until I was born, there was no suspicion about thalassemia being in the family. My parents immigrated to Germany from Greece, but they met and got married here. The early years of my care were hard. They had to deal with doctors. They didn’t speak German very well, and then also they had to deal with a disease that they never understood. Actually, Germany had poor knowledge of thalassemia, too. It was a disease which was brought by immigrants in the late 60s and early 70s. So, treatment in the first years was poor.

But you also had some good luck, right? You met someone who has been very important to you.

Yeah, I was lucky that a new doctor arrived at the hospital around the same time. His wife was from the US, and he happened to work for a few years in Atlanta. He knew a little about thalassemia and Sickle Cell. This was really, really lucky for me because the doctors here only knew it as a disease from the Mediterranean. 

He was really the most important person, the most helpful. He was my doctor until I turned 30. I always say that I have three parents because he really raised me as far as thalassemia is concerned. When I was around 19 and started to become very active and interested in co-managing my therapy plan, he really encouraged me. He appreciated my ideas and gave me the feeling that I was an equal partner.

What was treatment like in those early years?

When I was first diagnosed, the treatment was just keeping us alive with blood transfusions. The only thing they could do was to give transfusions so you could live a little longer and not die of haemolysis [note: rupturing of red blood cells], but then you died because of iron overload. As a really epic step, when I was around six years old, I think, the first chelator became available and it was revolutionary [note: chelators are synthetic chemicals that bind to heavy metals and extract them from the body through the kidneys]. Now, you could control, more or less, the iron overload. To have the therapy with the needles, the subcutaneous therapy, the stitches and all this, it was very hard, but it controlled the iron. The next big step was improvements in controlling the disease in the examination. A liver MRI instead of a liver puncture, which is very painful and an awful examination. Now, just to be in an MRI, wearing the headset and just have the command, "Breathe in, breathe out, don't breathe," and so on, and in 20 minutes you have a quantitative measurement of your liver or your spleen or your heart. This was revolutionary. Maybe younger patients don’t really understand because they don't know it's different to have oral chelator and just having to take your pills every day. Just a couple of pills. This is maybe annoying and boring, but compared to what we had before it’s amazing.

What has your personal journey with thalassemia been like?

I regularly had transfusions every four weeks when I was a child. And then it became two units every two weeks, because four units at a time was too much for my heart. So, it doubled the time I spent in the hospital. Then, around 18 or 19, I had a crisis. I didn't want to put a needle in my arm every night and sleep attached to a pump for eight hours or more, so I had neglected my chelation therapy and it led to really bad iron overload with many symptoms. I had iron overload in the main organs… the liver… my heart wasn't beating properly. It was very, very critical. I wasn't expected to make it.