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 mayoría de las visitas eran sólo por un par de días. After 2 rough hospitalizations, Sam tenía terror a cualquier mujer que no sea yo (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, que se encontró que tenía algunas señales que apuntan al desarrollo futuro de la cardiomiopatía. Es demasiado pronto para hacer nada al respecto así que por ahora, we are just monitoring that.

En general, 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! Estamos muy agradecidos por él y por todos los médicos y amigos que nos han ayudado a través de nuestro viaje hasta ahora. Sam sólo se está haciendo bien debido a nuestra comunidad de PA y su maravilloso médico especialista en metabolismo. No importa lo que depara el futuro para él vamos a seguir confiando en Dios y confiar en él para llevarnos a través de los tiempos difíciles.

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