A Bardet-Biedl Syndrome interview


How did all start?

2 years after birth. We performed DNA sequencing and was confirmed.

Do you already have a diagnosis? How long did it take you to get it?

Yes genetics. A few months before we got the results.

For what medical specialties have you been treated? What has been the most useful specialty for your?

Speech impairment and eyesight.

What has been the most useful thing for you so far?

Speech councling and sports.

What have been your biggest difficulties?

Articulating.

How has your social and family environment reacted? Have your social or family relationships changed?

They love and help me.

What things have you stopped doing?

Nothing yet.

What do you think about the future?

Unknown, just like everybody else. We only know more about pontential outcomes.

So far, which years have been the best years in your life? What have you done during them?

All of them.

What would you like to do if you didn’t have your condition?

Live life naively, like a everybody else.

If you had to describe your life in a sentence, what would it be?

Life is a game.

Finally, what advice would you give to a person in a similar situation?

Stay positive.


Jun 16, 2019

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