Sam W.
Sam was born a week and 4 days late. Everything about his birth was perfectly normal unlike his older brother. I had the birth I wanted; he was breastfeeding well. For 3 days, life was perfect. Then, we got the phone call. His newborn screen had elevated C3. He had to go to the ER immediately. He did not have any symptoms at this point, so we assumed it was probably just a precaution. The tests at the ER showed elevated ammonia, hypoglycemia, and elevated ketones. He was then admitted to the Children’s hospital. After 5 days, we had the diagnosis of PA. He was discharged and stayed out of the hospital until 7 months old. From 7 months to 18 months, he was hospitalized 9 times for illnesses, exhaustion, and constipation. Cele mai multe vizite au fost doar pentru câteva zile. After 2 rough hospitalizations, Sam era îngrozită de orice altă femeie decât mine (we assume because most nurses and phlebotomists were female). That’s when we decided to have a gtube placed. It was the best decision we ever made. He is now 3 and has not been hospitalized since the gtube surgery. Thanks to the newborn screen, he has never had a crisis. He is where he should be cognitively. Physically, he has hypotonia. He had to have therapy to help him learn to crawl and walk, but he still managed to walk by 18 months. In addition to the hypotonia, his energy levels are noticeably less than kids his age. During his yearly heart exam, el a fost dovedit a avea unele semne ce indică spre dezvoltarea viitoare a cardiomiopatiei. Este prea devreme pentru a face ceva despre asta asa de acum, we are just monitoring that.
Overall, Sam is a happy and thriving 3 year old. He is all boy and loves guns and superheroes. At the same time, he can be very sweet and loving. He also loves to eat especially chips and anything fried! Suntem atât de recunoscători pentru el și pentru toți doctorii și prietenii care ne-au ajutat prin călătoria noastră până acum. Sam este numai de a face bine din cauza comunității noastre PA și medicul său minunat metabolice. Nu contează ce viitorul pentru el, vom continua să aibă încredere în Dumnezeu și să se bazeze pe el pentru a ne trece prin perioade dificile.
That’s Sam’s story. Thanks for all you guys do to help with PA.