This post is also available in: Español (Spanish)Italiano (Italian)Français (French)
Hi everybody, this is Nina Contreras D’agosto, a half-Italian and half-Spanish baby girl. I was born in October 2017, four days after my father’s birthday and three days before my mother’s so that we can all celebrate together
One of my favorite hobbies is to get into my special box and drive it as if it was a tractor. I also like grabbing my toes, laughing with my grandmas, babbling to my grandpas. I love music and having my parents singing special songs and rhymes for me.
I have created this website because in December 2017 I got very sick and in April 2018 I was diagnosed with Glycogen Storage Disease type 1b, a very rare, serious and cronic condition which degenerates certain body organs.
I will explain you what GSD is through the different web’s sections. It is, however, important to highlight that my body does not produce glucose which makes me go into hypoglycemia very easily. This can kill me or provoke serious brain damage so I need to be under a very strict and permanent control. Added to that, my immune system does not work properly and I am very exposed to infections that can be fatal. I am vulnerable to serious intestines inflammations (like Crohn’s disease) and carcinomas in the liver. The inability to set up an intravenous line in certain hospitals in case of emergency and the ignorance about GSD among the people in general and the health staff in particular are also important challenges.
Taking all that into account and being GSD such a rare disease, I thought the best thing I could do was to raise awareness about it. It will remain rare but it will be better known. Maybe that will help us to get more support and resources to fight against it.
When I got the diagnosis I could perceive my parents were very worried. They did what they could to conceal their concern so that I would not notice but I am so smart that I realized about the whole thing.
With my smiles, my looks and my joy, I try to tell them not to worry. Since we know the diagnosis I am somehow better. Thanks to the efforts of my whole family I am now sleeping and resting a bit more, I am growing and I can play more often. Now I see my family is feeling better too: they soon started to take measures to improve the situation and nothing can stop us now.
Of course I have my ups and downs, sometimes I do not feel well, I have stomach pains and we have to run to the Emergency Room. I do not like the shots and the catheter bothers me. However, with so much love surrounding me I can really see the light at the end of the tunnel. My family says I am a warrior and a champion and I think they are right and that they are also great. The disease is rare but I am Special!
Despite all these great challenges and risks, I am confident I will handle the disease and we will manage to be happy. I would like to have a normal life, like the other babies. We will do everything we can in order to support the ongoing scientific research to find a cure or, at least, a therapy that facilitates a better life quality.
Thanks a lot for taking the time to read me. I hope you will like it and if you have questions please do not hesitate to contact me.
A big Nina-Hug for all of you.
Nina, Von Gierke’s Warrior.
P.S. Do you want to know why I am called Von Gierke’s Warrior? Keep on reading!