Sam W.

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. La plupart des visites étaient seulement pour quelques jours. After 2 rough hospitalizations, Sam était terrifiée de toute autre femme que moi (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, il a été constaté que certains signes pointant vers le développement futur de la cardiomyopathie. Il est trop tôt pour faire quoi que ce soit donc pour l'instant, 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! Nous sommes tellement reconnaissants pour lui et pour tous les médecins et amis qui nous ont aidés à travers notre voyage jusqu'à présent. Sam ne se porte bien à cause de notre communauté PA et son merveilleux médecin métabolique. Peu importe ce que l'avenir pour lui, nous allons continuer à faire confiance à Dieu et compter sur lui pour nous aider à traverser les moments difficiles.

That’s Sam’s story. Thanks for all you guys do to help with PA.