By Matina, Mutation of 2 Genes: CAV 3 - RYR 1 ), Greece, October 21, 2018
My name is Matina, I am 46 years old, I am married , I am a mother of three children, grandmother of 2 grandchildren and I also have a dog. I suffer from a rare disease. At the age of 40, my health problems started. After about 5 years of hospitalizations and countless medical exams, the cause of my health problems was found. A mutation of 2 genes (CAV3 and RYR1). Before the illness I worked in restaurants and participated voluntarily in various activities. Generally, I was a person trying to keep everything at a normal state. Work, home, children and husband. Now my daily routine has changed and I can no longer do things at the same pace that I used to. In order to do housework, or even to take a walk with my family, I need to take a lot of breaks and go slowly. Sometimes I cannot even do these things because of the terrible pains and muscle cramps. I have ongoing pains in my body that are growing in fatigue, and so far my body has been fully paralyzed 4 times. My husband and my children support me and try to help as they can. I do not take any medication because there is no cure but I'm taking dietary supplements to have more energy in my muscles. Despite the serious problem with my health, I continue to be optimistic and fight with all the power of my soul in every way I can and I contribute to informing and raising awareness of the rare diseases as a patient. I do not belong to a club or organization here in Greece but I speak as a mom and grandma whose whole life has changed because of a rare disease.
I live in the town of Litochoro, which is at the foot of Mount Olympus. My dream was to reach the peak of mountain Olympus. With the personal interest of the chief of the Hellenic Army General Staff Alkiviadis Stefanis this dream came true. In July 2018 with the help of the Hellenic army and the participation of a team of the Greek Red Cross we managed to get there. I was also accompanied by friends: Doctor Thanos Spiliotopoulos , Maria Papathanasiou (gymnast), Thalia Tentolouri (nurse) and of course my husband Vasilios Koutsiadis. The whole effort was covered by TV ERT3. At the same time I prepared a banner with the rare diseases logo to send a message of optimism about the rare diseases from the highest point of Greece. That we do not give up whatever happens to us, we stay strong, nothing is impossible as long as we try and that human limits are often to overcome. During this ascent I got empowered, having in my mind all the adults and children with rare diseases I know personally but also all those who struggle daily with a rare disease . Before the ascent, we picked up the banners from the Litochoro park along with the children who live here, they use wheelchairs because of their rare diseases (Marialena , Olga and Christos. One child, Giannis was not there with us because he was in a hospital but I was keeping his t-shirt in my arms). We wore t-shirts that wrote the name of our disease and we all showed that we care about the rare diseases. Also I wore a hat that wrote the ALS disease by representing a dear friend (Giorgos) who suffers from it.
Everybody has a hidden power inside us and we must continue to face and fight our disease, to believe in ourselves and to try to make our dreams to come true. I am not going to give up! My body has changed but not my soul. I am a woman, a wife, a mother, a grandmother and I will continue to smile and hope for the best and I wish with all my heart to quickly find treatments for everyone and especially for children suffering from diseases.