Rare Disease Day 2016

Categories: In The Media.

The official 2016 Rare Disease Day Video celebrates the special moments in the lives of people living with a rare disease. One of these people is Elisa, who is eighteen years old and was born in Treviso, Italy where she lives with her parents Sergio and Catia.

When Elisa was born cardiologists found that she had a heart defect (supravalvular aortic stenosis) and a narrowing of the pulmonary artery (pulmonary artery stenosis). After extensive tests Elisa was diagnosed with William’s syndrome 5 months later. Williams’s syndrome is a rare genetic condition that is caused by a deletion of the elastin gene in chromosome 7.

Initially it was incredibly difficult for Sergio and Catia, but after Elisa’s heart surgery at 8 months they overcame their fears and faced her diagnosis with courage and determination. Today Elisa is a happy, sociable, friendly eighteen year old that brings joy to everyone she meets. Elisa has a passion for music. She plays the piano and has composed her own music. There are many young people like Elisa living with rare diseases that successfully finish school and are able to function relatively independently as young adults. However, a lot still needs to be done to raise awareness of rare diseases. Join in making the voice of rare disease heard by taking part in Rare Disease Day 2016. Visit www.rarediseaseday.org for more information on how you can get involved. 

Click here to watch the Official Rare Disease Day video.