The story of Gredel
Hi, my name is Sophie, I live with Bob and Olaf, my two bone tumors.
When I was 17, I started to have daily nausea, dizziness and a lot of pain in my sinus area. Doctors believed it was a bad sinusitis and I got a treatment. Well, it wasn’t a sinusitis. It all came back every year to six months and last year it was really painful. First I got treatments for different kinds of sinusitis. Than I got a lot of examinations cause it was clear it wasn’t a sinusitis. I got a sinus scan and there it was, fibrous dysplasia. My first doctor told me that I couldn’t do anything and if the pain was coming back, that I should go see a surgeon to remove Bob.
I had to make a lot of research to understand it cause I couldn’t accept the what my first doctor told me. I found the french website for the disease and discovered that surgery wasn’t an option cause it would grow back. So, I contacted the the head of the competence center for bones rare conditions in Lyon to known what to do and how to treat the disease. He gave me the name of the specialized doctor near me in Strasbourg. I will always remember the day I called and ask the secretary “Let me explain, I have just been diagnosed with a rare disease and I was told to call here. I don’t know what to do, can you help me?”
A months later, I had my first appointment with rheumatologist in Strasbourg and she… She made everything a lot easier. She made me do a full day of examinations at the hospital to confirm the diagnose, and it was confirmed on October 1st 2021.
I was lucky cause I got a fast diagnosis (in the world of rare disease) and treatment to try to stabilize my bones and reduce the pain. (The disease is normally asymptomatic, but because of the location of my tumors, it really hurts sometimes.). I have made my second cycle of my two years treatment (I don’t known if there will be others) last week and even though I get sick, my pain has reduce a 60%. I also feel lucky cause I could speak freely about it with friends, family and classmates.
It is still hard sometimes to tell myself that I am 22 and will be sick my whole life. I have been sick most of my life, whether mentally or physically and have to qualibrate to it. You learn with time, but the important thing is to love yourself cause it isn’t your fault and you are not alone, even if it fells like it.
When I was diagnosed, my doctor told me :
“You know, we tend to discover a lot of genetic mutations everyday. Everybody has a flaw or genetic weirdness. You just have one that is stronger than others. It is part of you and you will have to leave with it no matter what. So, just embrace it and accept it, accept yourself.”