My name is Gísli Snær and I will be 1.5 years in January (but 16 months adjusted). When my mummy was pregnant, all scans looked good but pap-a hormone was low. I was growing fine in my mummy's tummy but my mummy got really sick from preeclampsia when she was 31 weeks. The doctors performed a C-section at 31 weeks plus 6 days. I did not need any oxygen at the NICU but the nurses and doctors saw something was wrong because I had mild laryngomalacia, micrognathia, clasped thumb and very poor suction. The doctors did a DNA test. I have 1q34 chromosome deletion.
Days, weeks & months after diagnoses
I wasn’t always the happy, smiley, cheeky boy I am now. The first 6 months of my life I was always throwing up my NJ tube. My mummy and daddy always had to replace it and Í found it so traumatizing. It wasn’t till the doctors changed my formula and I got a G tube when I started throwing up a lot less. I started gaining weight and everything was better for me, my mummy, and daddy. I started feeling a lot better, could go to physiotherapy and swimming to work on my strength. I started showing progress (slow but progress) and I just had to go to the hospital for normal checkups, not to get IV or get my blood drawn from my head. I still can't walk or crawl but I am working hard towards it.
Now I am always happy and smiley. Even though I have a really busy schedule and mummy and daddy make me do stuff I don't want to do - like feeding & therapy, I always wake up with a smile on my face. I love dancing, playing the piano, being with my friends, swimming and traveling. My mummy and daddy take me everywhere, I've been to Spain, Italy, and took a road trip across Iceland. Next thing on my to do list is to go to Florida and see Disneyland. I can't wait because I love seeing new places, meeting people, and exploring the world. 😀 My future is bright and I cannot wait to see what it holds.