The story of Sarah
My baby was born on the 6th September 2021 by emergency caesarean. We had no clue that he would be so unique, just told that he wasn’t thriving anymore. He came into the world small and fragile 1,308kg at 34 weeks into my pregnancy. They dotted him -1% percentile on growth charts. While in ICU they checked him to find he had complex heart problems (atrial septal defect, pulmonary stenosis, mitral valve cleft, an extra coronary artery) after so many days they noticed high blood sugars ranging in 400/500dl/ml. To be diagnosed neonatal diabetic. We quickly agreed to DNA tests. He spend two months at this ICU growing slowly but through intravenous fluids. We agreed he needed to move to a bigger hospital after his DNA tests confirmed his rare disease. Deletion of chromosome 8 including GATA 4. We were not told a lot of information as it’s so rare and there is not much medically wrote. We have spend over one year in hospitals, where Alessandro has had many tests, heart corrections and medical training for me for his diabetes. Now being at home for a short time, I watch him grow and become his own little character. Such a delightful happy child after a not so easy start to life. We are still very early into his disease, so I try to educate myself through websites and social media. Searching for information that can help educate me to give my son the care he needs but to try and be aware of what needs specialist attention. I will continue to update his story as he grows, but now he is a happy 16 month old baby, trying to crawl and explore. The diabetes my son has is also very rare, as he is missing a gene GATA 4 it has caused a mutation in his heart, liver and pancreas. It’s all so new but we learn of what we can and our Doctors have been so supportive.