An article by our collaborator Irene Tarragó

Hi everyone I’m here again. Keeping up with life, events, day-to-day challenges, joys, sorrows, this blank page that awaits me every month… and also living, which is not a small thing. I’m not going to talk about Coronavirus because I think we are all sufficiently informed of the current situation. But yes, I would like to send a big hug to everyone and especially to professionals from different fields who are working in healthcare throughout Spain.

I will, instead, talk about the event I attended on February 29, World Day for Rare Diseases. Specifically, the II Gala Benéfica de la Fundación Inversión-Duplicación Cromosoma 15Q. This Syndrome, also known as partial tetrasomy of chromosome 15, is a chromosomal alteration of numerical and structural origin whose prevalence is 1/30000 individuals born and which affects both sexes equally. The symptoms of this disease are varied:

• Early central hypotonia
• Delayed psychomotor development
• Moderate to severe intellectual disability
• Generalized development issue
• Epilepsy

Anyone, with or without illness, seeks the same thing: to be accepted, understood, to be one more…

I summarized the basic information of the disease for to know that it exists. I consider it essential that people get to know it. As you can see, it is related to epilepsy. It was an impressive event, where sadness or self-pity were absent. Instead it was full of joy, love and emotion. The vice president of the Foundation, José Carlos Sicilia, read a letter to his son, who has this disease, which was really emotional, without a hint of sadness nor hopelessness. That letter was full of love.

Let’s remember that anyone, with or without illness, seeks the same thing: to be accepted, understood, to be one more… and nobody has to tell us what is rare or what is not rare. I suppose that the disease is the one that is rare for being little known and suffered by few people. But people who have it are not rare. They want the same: love and acceptance. And the people from the Fundation give it in abundance.

Let’s all change our point of view. Sometimes, looking at things the wrong way does the most damage. And let’s hope that “normality” returns as soon as possible. Lots of encouragement, and yes #IStayHome

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