Rare Disease Day 2016

Categories: In The Media.

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). 

Five months later, after extensive tests, Elisa was diagnosed with William’s syndrome. 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 eight months old, they overcame their fears and faced her diagnosis with courage and determination. 

Today Elisa is a happy, sociable and friendly eighteen-year-old who brings joy to everyone she meets. She has a passion for music, plays the piano and has composed her own songs. 

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. 

Watch the Official Rare Disease Day video on YouTube.

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