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. 大多数访问只有几天的. After 2 rough hospitalizations, 山姆很害怕任何女性其他的比我 (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, 他被发现有一些迹象指向性心肌病的未来发展. 这是为时尚早，现在做任何事情会这样, we are just monitoring that.

总体, 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! 我们非常感谢他和所有的医生和朋友谁帮助我们通过我们的旅程至今. 山姆只是做是因为我们的PA社会，他的精彩代谢的医生以及. 不管什么样的未来持有他，我们将继续信任神，依靠他度过这段艰难时期让我们.

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