As told by Sandra:
Portugal, February 2016 was the beginning of a journey that had actually started in my mind ever since it was clear in my heart that I wanted my family to be complete with a child. Finally, Guilherme, my baby boy, was here. But all of a sudden, he wasn’t. Instead of being in my arms, he was rushed to the NICU. “Low blood sugar”. “Don’t worry mom, he just needs a moment to adjust”. But the moment turned into days, into weeks, and the answers didn’t come. How can you wait in a sea of doubt, of worry? After endless nights of research, being blamed for “playing doctor” in a country where a more participatory approach to healthcare is frowned upon, I came across the possibility of a diagnosis that made sense: congenital hyperinsulinism (HI). Doctors agreed but were somewhat at a loss on how to manage it, and the phrase “we just have to wait and see” kept being repeated. I felt lost and alone. Helpless.
My job was to protect Guilherme, but I felt I couldn’t do that, not with no answers… So, I went looking for answers. I found them across the ocean when I found Congenital Hyperinsulinism International (CHI), a community of experts and families who helped me understand what was going on with my son and what the doctors and I could do to keep him safe. It introduced me to a terribly scary disease, but it also showed me there was hope my son could be cared for. It gave me the possibility of getting a prompt genetic diagnosis that dissipated doubts and supported the choice of treatment. Local doctors were able to consult with international experts, and my son was transferred to a specialized medical center in another country. Treatments were tried and trialed until it was safe enough to leave the hospital. And on February 6th, 2017, we were finally home. A new part of the journey was about to begin, but we weren’t alone anymore. We were part of a community with many goals and purposes, a community to which we could also contribute.
Participating in the HI Global Registry (HIGR) was one way to do that: helping increase knowledge about HI while making sure our voices, as patients and families, are taken into account, are heard, understood, and valued. Every time researchers choose to include HIGR data in their studies, they are making sure to include real-life, scientific, and reliable information in their research. Each report, paper, poster, or even post that HIGR data generates unwraps a new layer about the complexities of HI and enables the people living with this condition to become part of its growing body of knowledge and contribute to it. Being part of HIGR, for us, is one way to give back to the community that has given us so much. Being part of this community means making sure we never ride the highs and lows of HI alone.
