The story of Rachele
Hello everyone! My name is Rachele, I am 23 years old from Italy. As part of the rare disease day awareness campaign, I’d like to share my story.
I live with 7 rare diseases, two of which are genetic. The first symptoms started showing up during my childhood and should have been big red flags. Unfortunately, they went unrecognized until a couple of years ago, when during my last years of high school my health took a turn for the worse and continued to deteriorate inexorably. I was then diagnosed with several chronic conditions, including (but not limited to) Dysautonomia and the first rare disease, Arnold Chiari Syndrome Type 1, which all together then led to the diagnosis of the second rare genetic disease: Ehlers Danlos Syndrome. Soon after, following gastrointestinal complications, I was diagnosed with two other rare diseases: Gastroparesis and Benign Chronic Intestinal Insufficiency (IICB) aka Intestinal Failure, which is the rarest of all the organ failures, so rare that it is not even recognized as such in Italy. Soon after, I found out I have another rare disease called trigeminal neuralgia, and the following summer I suffered a spontaneous CSF leak caused by a spontaneous breach, in turn caused by tissue fragility due to Ehlers Danlos, which then lead to the diagnosis of Spontaneous Intracranial Hypotension, a rare neurological disease also not recognized as such in Italy. Recently, after years of being told that having a high fever associated with other symptoms every month was normal because I was “made that way,” I was finally diagnosed with a rare autoinflammatory disease, a genetic syndrome with periodic fever.
I have numerous other chronic illnesses that further complicate my life.
Speaking up about chronic and rare diseases is crucial: more knowledge means less prejudices and less stereotypes.
My diagnoses have been delayed considerably, both by doctors’ lack of knowledge about rare diseases and because of their stereotypes and prejudices. For years I was “just a hypochondriac,” “anxious and depressed,” or “just looking for attention”. For years I was belittled and humiliated by those who should have helped me, but instead told me that “those who were really sick were others, not me,” that “I should be ashamed to pretend to be sick,” and that “if I really had all those symptoms, I would have been already dead and since I was alive then I was faking it,” even going so far as to accuse my family, saying that they were my undoing only because they always supported me and stood by me.
Every day is a challenge. My life has changed a lot. I can’t do a lot things anymore, for the most part I need to be accompanied all the time and I move around with the help of a walker. For the past year, however, I’ve started telling my story and volunteering for several associations that deal with invisible chronic diseases and rare diseases. Talking about it not only helps you come to terms with the disease and with yourself, but it can help so many people who may not have a diagnosis yet. It helps to feel less alone, to connect with others and to make visible the invisible, to highlight rare diseases and related problems. Together we empower each other, compare and advise each other.
Alone we are few but together we are many and our voice comes loud and clear ❤️