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. Die meisten Besuche waren nur für ein paar Tage. After 2 rough hospitalizations, Sam wurde von jedem weiblichen außer mir Angst (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, er wurde einige Anzeichen zu haben, wies auf die zukünftige Entwicklung von Kardiomyopathie gefunden. Es ist zu früh, etwas dagegen zu tun, so jetzt, we are just monitoring that.

Insgesamt, 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! Wir sind so dankbar für ihn und für alle Ärzte und Freunde, die uns durch unsere Reise geholfen haben, so weit. Sam tut nur gut wegen unserer PA-Gemeinschaft und seine wunderbare metabolische Arzt. Egal, was die Zukunft für ihn hält werden wir auch weiterhin auf Gott zu vertrauen und verlassen sich auf ihn, uns durch die schwierigen Zeiten zu erhalten.

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