- Phenylketonuria
- Interviews
Georgina's interview
How did all start?
When I was born, my screening test showed that I had phenylketonuria. My parents did not have an idea about what this disease is. After doctors tried to explain to them and psychologists evaluated them, they went home with a newborn and numerous directions of things I had to do. It was 24 years ago and doctors knew very little back then about the condition.
Do you already have a diagnosis? How long did it take you to get it?
The diagnosis was made when I was just a few days old.
For what medical specialties have you been treated? What has been the most useful specialty for your?
For now I receive treatment for my nutrition, mostly supplementary aminoacids etc. But I am thinking about to participate in the experimental use of a new medicine proposed as treatment for a more phenylalanine enriched diet, called Kuvan.
What has been the most useful thing for you so far?
Being in that age, I have realized that because I was so careful with my diet since I was little, now I am more capable of doing lots of things. That is the most important thing.
What have been your biggest difficulties?
After a certain age, the food cravings...starting as a teenager of course.
How has your social and family environment reacted? Have your social or family relationships changed?
Many of my family members do not understand the disease because they are old people incapable of understanding how a food can be "toxic" for a person...they ara narrow minded! But very close family and friends were supportive! Now that I am an adult I don't usually discuss it with people openly. Only if needed or if I get close to them
What things have you stopped doing?
I didn't stop anything!
What do you think about the future?
I hope for a medicine that will have an impact in all people...in order to enhance their quality of life!
So far, which years have been the best years in your life? What have you done during them?
I love how I have spent my years. I finished high school, did a bachelor's degree in Psychology and currently I am doing a master's in Neuropsychology. I have high hopes to reach a phD and generally, nothing stops me. I have big dreams and I am trying to pursue them.
What would you like to do if you didn’t have your condition?
This disease makes you mature sooner than other kids (whether you want it or not) so maybe I would want that to change...to be a little naive for those years! To be able to be more free...not to make my family feel sad if I ask for an extra cookie!
If you had to describe your life in a sentence, what would it be?
Shoot for the moon. Even if you miss, you will land among the stars!
Finally, what advice would you give to a person in a similar situation?
The key is to have a good and slightly strict diet until adulthood. After that, there are some occasions where you can have a more relaxed diet.
