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. A maioria das visitas foram apenas para um par de dias. After 2 rough hospitalizations, Sam tinha pavor de qualquer outra mulher do que eu (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, ele foi encontrado para ter alguns sinais que apontam para o futuro desenvolvimento de cardiomiopatia. Ainda é muito cedo para fazer qualquer coisa sobre isso por enquanto, 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! Nós somos tão gratos por ele e por todos os médicos e amigos que nos ajudaram através de nossa jornada até hoje. Sam está apenas fazendo bem por causa de nossa comunidade PA e sua maravilhosa médico metabólica. Não importa o que o futuro reserva para ele vamos continuar a confiar em Deus e confiar nele para nos levar através dos tempos difíceis.

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