Grappling with Gaucher Disease in Greece, Two Sister Share Diagnosis

From South Africa and back to Greece, my life was full of bone pain and feeling tired all my childhood years. My roughest time was when I had a bone crisis and had to be admitted to the hospital in Johannesburg where the doctors had no idea what it was about. I spent 10 days in the hospital and for a young, immigrant child it was a nightmare.  In the care of doctors and nurses, I survived and went back home– but without any information about why I had this terrible bone pain. All the doctors thought I had Thalasimia, as I was Greek. I was monotiored by a Jewish doctor who did all his best but I was still in the dark about what was happening to me.

Later on I would be diagnosed with anemia and low platelets, but with no other clues to a diagnosis on the horizon I had lost hope. Then my  sister had her own medical journey and was diagnosed with Gaucher Disease. Thinking this might also be the diagnosis in my case, I got myself checked out. I was diagnosed by a hematologist as having splenomegaly, hepatomegaly, low platelets–and yes, Gaucher Disease!

Unfortunately then there was no treatment for Gaucher disease and after many years I had a splenectomy because I had very low platelets. In 1996, therapy for Gaucher disease type 1 was introduced to Greece and fortunatelly I had my first infusion in 1999.

My advice for all diagnosed Gaucher patients is to get in contact with their local patient association to get information so they will not have to struggle to find the right path treatment. Many patients also benefit from having the assistance and solidarity of other patients.We hope in the future we will have home therapy and finally there will be a gene therapy in the future for all Gaucher patients all over the world.