miércoles, 29 de junio de 2016

I am a Berardinelli - Lipodystrophy community - RareConnect

I am a Berardinelli - Lipodystrophy community - RareConnect



I am a Berardinelli

I am a Berardinelli, and not because it is my family name, but because I have the Seip-Berardinelli syndrome. It is a rare disease that is –scientifically and socially - most unknown to many people.
Written by monickitu, published 7 months ago.
I am a Berardinelli, and not because it is my family name, but because I have the Seip-Berardinelli syndrome. It is a rare disease that is –scientifically and socially - mostly unknown to many people. I was born in Chile in early 80’s and I was a normal baby until my first 2 months of life. Then I began to show the syndrome’s signs, both physically and in my blood. In fact blood tests had been done because I had an inguinal hernia that had to be removed. However, I was not diagnosed with this syndrome at the beginning, but rather with a lipid metabolic disorder, although progeria was not completely discarded until I was 4. I’d been a victim of the ignorance of many doctors who prescribed me wrong and careless treatments for my first 13 years of life. I’ve also been a victim of society, since I’ve suffered discrimination, prejudices and mockery due to my physical appearance. I’ve felt rejected. I’ve been the target of the intolerance towards what is unusual or not not socially accepted till now, especially after the conditions of my eyes, worsened due to diabetes, causing severe anti-aesthetic consequences, which culminated with the removal of my eye.
I’ve never lived a normal life. Since I was a child, even the most natural and common activity such as eating has been a problem, a limitation for me, especially in the past when diet products were not so widespread and assorted as today. It was hard to follow a diet, but when I was diagnosed with the Seip-Berardinelli syndrome and diabetes at the age of 13, eating became a huge problem: the diet was really strict and harsh; not only for the kinds of food, but also for the tiny portions I was allowed to eat. Sometimes I even cried for hunger, desperately waiting for the mealtime to come. In my battle against forbidden food and my insatiable hunger I felt alone and misunderstood for years. Many made fun of me, criticized me and stated that following a diet was easy, but no one really got into my shoes, until some found themselves for some reason forced into a strict diet.
My extreme thinness, my long face, prominent veins, marked muscles, big and fat hands and feet since I was 2 months old have never passed unnoticed. Many people, even doctors themselves, think I am anorexic and/or bulimic, two conditions that do not match at all with how I feel, since I am always incredibly hungry due to the lack of the leptin hormone in my body..
I have never suffered any pain related to this disease. At some point I decided that I wanted to know why I could not eat what everybody ate, what was in fact my alleged disease, since I had neither physical pain nor any other symptoms – in my opinion- that could reveal it. I found no answer, so I decided to challenge everybody and try food that I was not allowed to eat. I really enjoyed it and I also found out that I was fine, or at least that there were no visible signs that something in my body was going wrong. Soon enough though, I started to have xanthomas in my knees and elbows, caused by triglycerides over 4000 and cholesterol levels over 1000. Later diabetes got worse and I started to suffer terrific pain everywhere, and I still do. Without all this, though, I would have never had the chance to become aware of what being a “Berardinelli” really means. Moreover, I also met excellent doctors who have given me good advice and are still helping me and other people affected by this syndrome and other lipodystrophy –associated disorders.
I fight everyday against hunger, pain, glucose, and lack of knowledge on this disease. I also struggle to get the treatment with recombinant human leptin for me, my sister and other people who need it.
Written by monickitu, published 7 months ago.


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