They travelled from Spain to the Netherlands, with a sick baby and a nurse, to find a better treatment for their daughter Nina. “We came to the Netherlands, it was an amazing and intense journey, that we will always remember.” This is the story of Nina who has the inherited metabolic Glycogen Storage Disease 1b. Finding proper treatment for this disease is difficult, since it is occuring in only 1 out of a 1 million newborns. That is why children with this rare disease need expert treatment, just as many other families that live with rare diseases. Expertise, that often can only be found on the other side of the world. Nina's father, Enrique Landelino Contreras explains their story, their struggles and their journey to Groningen.
At the University Medical Center, Nina could finally receive new treatment. “For this hospital stay in Groningen, we keep very, very good memories. Not only because of the excellent medical results, but also because of how well we were treated. We were treated with a lot of humanity, with a lot of empathy,” says Enrique.
But there was much more to this stay, than only the treatment, he says. “I was invited, as Nina's father, to some multidisciplinary meetings, with doctors, nurses, nutritionists, logopedists, pedagogues, psychologists, so the whole medical team was there, [...] I could tell about our experiences, my opinion as a parent, what I was observing and I really had the feeling that these inputs where taken into account to decide the way forward.[...] We felt welcomed, we felt listened to, we felt that the centrality of the patient approach was really implemented at its best and that we were somehow part of the team.”
In this podcast we interviewed Dr. Terry Derks, the doctor who treated and accompanied Nina, as well as her father, Enrique Landelino Contreras. You will be able to hear more about Glycogen Storage Disease 1b, about symptoms and treatments and how daily life with the disease looks like.
If you want to find out more about Nina’s story, you can read this wonderful article, written by Enrique, and Nina’s mother Marta D'agosto.
And for the scientifically interested, you can download the paper on the new treatment that helped Nina here.
This journey, treatment and exchange wouldn’t have been possible without the initiative of European Reference Networks, specifically the MetabERN, as well as the cross-border directive from the European Union.
You can also visit Nina’s website www.ninalaguerrera.org and social networks #ninalaguerrera.org. There you will find out more about the “Warriors In Action”, they promote awareness about Nina's disease and raise funds to support GSD 1b research.
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