| Anson J. |
 Anson was diagnosed with PA when he was 2.5. His mother noticed once she stopped breastfeeding and put Anson on whole milk that his health seems to slowly get worse. He would sleep more and it became harder and harder for him to have bowel movements. When his growth started to become stunted and he would scream while having bowel movements, his mother brought him to his doctor and had him tested. At that time, his family doctor happened to remember reading about organic acidemia’s in a paragraph in his medical book and had Anson tested. Once he was diagnosed, Anson’s mom was put in touch with Dr. Packman from UCSF. After being in and out of the hospital for several years and testing many medications, Anson finally seemed to stabilize and his family was able to settle down a bit.
At around age 12, Anson felt like he didn’t fit in and that to make it better, he started to ignore the fact that he had PA and thought it would go away since he had been out of the hospital for many years. He stopped taking all medication, either hiding it from his mother, or refusing to take it altogether. Anson attended jr high and part of high school with no complications. He ate what he wanted and tried to forget his PA. He made the track and soccer team and had become very athletic. A couple of days before Anson’s 18th birthday, he was sitting with his mom and step-dad (mom was an EMT and step dad is a volunteer firefighter) when his heart went into b-fib and he stopped breathing. His mother and step-father kept him breathing until he was life-lighted to a hospital where they put him in a chemically induced coma to figure out the problem and how to fix it. Doctors told Anson that the amino acid in his system had built up as fatty tissue around the heart causing the b-fib. It was also discovered that Anson had arrythemia and an enlarged heart. A pacemaker/difribulator was put in and he was put back on his medications.
About a year and a half later is when we met. We dated 6 months and were married. One our one year wedding anniversary, we found out we were pregnant with our 1st child. She is now 4 and we have a 21 month old son. They are both unaffected by PA. (neg. in newborn screening)
– Colleen J |
Anson now takes his carnitor in addition to a betablocker. He is currently able to eat a little under the normal RDA of protein for an average sized man. His blood still shows signs of having PA present, but currently all of his levels are normal, and his heart is now at normal size. He works as a travel nurse recruiter locally and we have a marketing business on the side. Anson loves life and his family and is committed to showing God’s goodness no matter what the circumstances.