My name is Angelina and I am 41 years old. I always knew I was different from the others. I remember as a child I would tell my mother: "No one looks like me...".
In May 2015, I was finally able to put a name to this difference. On that day, I realized that my physical, psychological and medical difficulties stem from the Di George syndrome.
My childhood was disrupted by delays in development, motor skills, language and sleep disorders that doctors could not explain. At the age of 11 I was given growth hormone to grow up because I had a pituitary gland malformation. At the age of 13, the service for sick children of Saint Vincent de Paul in Paris carried out genetic research on me and found nothing. This was the year 1993, and the doctors told my parents "Your little girl is doing well". At that point we just focused on treating my double scoliosis, caring for my hearing impairment and ear malformation, and straightening my legs. After years of therapy, I finally grew in size!
My childhood went by peacefully. Everything was fine at home, and just like other kids, I would play with my little sister, Claudia. School days were complicated, and some teachers wanted me to go to a special school, which my parents refused. Against my teachers' expectations, I managed to learn to read and write with the help of my mother and my speech therapist. I went to see the speech therapist until I turned 18.
I endured social problems during my teenage years. Due to my enormous difficulties speaking in public, my unusual physical appearance and my nasal voice, I was prone to mockery. I felt uncomfortable outside my family environment, but my family provided me with boundless support. To boost my self-confidence, my parents enrolled me in the conservatory to learn the flute and in an association in Paris to learn French sign language. I did not feel confident because I suffer from severe psoriasis, but I did manage to make a friend that I still have today and with whom we traveled to other countries.
When I finally found out about the syndrome, I was torn between obviousness and grief. It was the hospital in Nice that did the genetic research at the request of my dermatologist (they thought I was suffering from psoriatic rheumatism).
Despite the difficulties that Di George syndrome can bring, I was able to work a little in the social sector for the elderly and live by myself in a studio in Nice. As I am from Italian descent, I am used to living with my grandparents, so this job suited me, especially in terms of communication.
Maybe if I had known earlier, I could have benefited from psychological counselling and learned to live better with the disease. It might have helped me have a better life like everyone else, perhaps a family, children, and to be less lonely...
In 2016 I joined in “Generation 22”, the French association of patients affected with the 22q11 syndrome, to get more information about the disease. As soon as I learned the diagnosis, to cheer me up, I started studying and in 2019 I was able to obtain a literary degree and learn Italian and Spanish – though my teachers said throughout my schooling that I would never be able to learn anything. I also started new activities like drawing, painting, puzzles, diamond painting or playing the violin. These activities help me to get away from it all. My project for 2021 is to enroll for a history degree.
To this day, my greatest sorrow is that others minimize our disease. When we don't succeed in certain things, we are quickly categorized as spoiled or weak.