Hi everybody, this is Nina Contreras D’Agosto here, 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, you can see me doing it on my website. I also like grabbing my toes, laughing with my grandmas, and babbling to my grandpas. I love music and get my parents singing special songs and rhymes for me.
I got very sick
In December 2017 I got very sick and in April 2018 I was diagnosed with Glycogen Storage Disease 1b, a very rare, serious and chronic condition which degenerates certain body organs.
I will explain what GSD is. It is important to highlight that my body does not produce glucose which makes me go into hypoglycaemia very easily. This can kill me or provoke serious brain damage, so I need to be under 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 intestinal inflammations (like Crohn’s disease) and carcinomas in the liver. The inability of some hospitals to set up an intravenous line in case of an emergency, and the ignorance about GSD among people in general and health staff in particular, are also important challenges.
My parents were very worried
When I got the diagnosis I could tell my parents were very worried. They are humanitarian workers who have been based in countries such as Afghanistan, Yemen, Iraq, Colombia and Somalia. Even if they are used to see much suffering, this news broke their hearts. After so many years helping others they never expected they would be the ones needing so much support. They tried to conceal their concern, so that I would not notice but I am so smart that I realised the whole thing.
Now it is all smiles
With my smiles, my looks and my joy, I try to tell them not to worry. Since we have known 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 injections 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. 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 other babies. We will do everything we can to support the ongoing scientific research to find a cure or, at least a therapy that enables a better life quality.
I’ve got my own website
Taking all this into account, and GSD being such a rare disease, I thought the best thing I could do was to raise awareness about it with my web site. GSD1b will remain rare, but it will be better known. Maybe that will help us to get more support and resources to fight it.
Thanks a lot for taking the time to read my story. 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
Notes from AGSD-UK
Amazing Nina has raised over $100,000 to support research.
Please follow her on her website and blog:
Visit Nina the Von Gierke Warrior’s web site.
If you would like to read an indepth account of Nina’s challenging
journey, including the medical details:
Visit the Wiley Online Library.