The story of Nicole
From INVISIBLE to VISIBLE.
My name is Nicole, I’m 24 and I have a rare disease called systemic mastocytosis. Since I was a child I have suffered from muscle / bone pain, often also from gastrointestinal (GI) problems, the doctors said that were growing pains: if these were growing pains, what was the effort to grow up? For years I have been shown to many psychologists, they said I just wanted attention because my parents were divorced. A twenty minute walk five years ago caused me stress fractures in both tibia. The doctors knew that this was not normal for a 19-year-old girl. After visiting so many hospitals, I started to feel sad because the doctors didn’t understand me. Then finally a doctor from a hospital listened to me, without saying anything, he went to a meeting of doctors in Florence for”hypophosphatasia”. For me it was finally a light at the end of the tunnel.
I wrote to thank him and he replied “Tuscan heart”, I will always be grateful for this gesture. I started the tests at the hospital. The tests were negative, the world collapsed on me. It started all over again, tests and visits. Subsequently, a hematologist from the Verona hospital contacted me telling me that she suspected a rare disease called “systemic mastocytosis”, so I went to the hospital for a bone marrow biopsy to confirm it. In December 2018 my diagnosis was confirmed. Finally there is an answer to all my sufferings. I tell my story because I would just like to make people understand that they should never underestimate anything and always stay close to people despite everything, without diminishing their pain or their worries and believing in our symptoms. I wanted to say that after so many years I am finally happy, maybe I shouldn’t be because it is a rare disease and for now there is no cure, but finding an answer to all my suffering, for me, is a won battle. After my diagnosis of systemic mastocytosis, I was also diagnosed with fibromyalgia, osteoporosis, lumbar disc disease, postural tachycardia (POTS) and other problems. I think as long as we have a voice, we need to make ourselves heard, especially those who have unknown RARE diseases, so that people get to know us. This is my opinion, there are those who are more reserved and there are those who want to shout their story, their wounds, their experience to the world, perhaps to help others. Unfortunately, in the past years I have not been able to finish high school, I was not well and concentration was not possible (my illness also creates cognitive problems). This year I graduated from linguistic high school with curvature in economics, over the years I have learned to listen to myself, I have learned to have self-esteem. I have a boyfriend, this guy has always been close to me, he knew about all my problems.
I think as long as we have a voice, we need to make ourselves heard, especially those who have unknown RARE diseases, so that people get to know us. This is my opinion, there are those who are more reserved and there are those who want to shout their story, their wounds, their experience to the world, perhaps to help others. I have a fiancé, this guy has always been close to me, he knew about all my problems. He managed to show me a beautiful future that we are now realizing. When people ask me about my illness, the answers are often “ah but you don’t have the face of someone who is sick” “lucky you that you don’t have to work all day”. Anyone who suffers from a chronic and disabling disease like mine knows very well that living with these types of diseases is like doing a double job for us. Live our days trying to calm our symptoms with various medicines, try to find a positive point in many negatives, get out of bed and try to appear in public with a “decent” face and not one who may not have been able to sleep because of their own symptoms. Facing various doctors who may know practically nothing because the disease is so RARE that they often dismiss you with various “excuses”. It is difficult to get out of bed in the morning and try to get used to one’s “new normal” or rather “new life”, it is difficult to accept that often we cannot do things that healthy people of our age can do, face a journey where we they are more medicines than clothes, it is difficult to accept that wherever you are, if the tablet time comes you have to take it otherwise you risk that the symptoms worsen so much that you end up in the emergency room. I always say, we try to help make these diseases from “invisible” to “visible” so that each of us receives the right support and the right understanding.
“IF YOU CAN’T SEE IT, IT DOESN’T MEAN THAT IT IS NOT THERE”.