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 mesi, he was hospitalized 9 times for illnesses, exhaustion, and constipation. La maggior parte delle visite erano solo per un paio di giorni. After 2 rough hospitalizations, Sam era terrorizzato di qualsiasi altra femmina di me (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 mesi. In addition to the hypotonia, his energy levels are noticeably less than kids his age. During his yearly heart exam, è stato trovato per avere alcuni segni che puntano al futuro sviluppo della cardiomiopatia. E 'troppo presto per fare qualsiasi cosa su di esso quindi per ora, we are just monitoring that.

Complessivamente, 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! Siamo così felici per lui e per tutti i medici e gli amici che ci hanno aiutato con il nostro viaggio finora. Sam sta solo facendo bene a causa della nostra comunità PA e la sua meravigliosa medico metabolico. Non importa quale sia il futuro per lui continueremo a confidare in Dio e contare su di lui per ottenere attraverso i momenti difficili.

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