noah

    The pediatrician phoned when Noah was two weeks old and told us one of the blood tests had come back slightly abnormal. We were told to bring him in to be retested right away, but not to be overly concerned that these tests were new to our state and fairly unreliable. We had him retested that day and waited one more week before calling the office for the results. We were then told that the test had come back abnormal again, and we were referred to a specialist at the University of Illinois at Chicago. When we called to make the appointment, we began to realize how serious this was. We were told that we would have to be seen as soon as possible.
     After taking Noah in, there were more specific tests done and this confirmed that he did in fact have ASA. His ammonia levels were 155 when he was admitted. He spent one night in Pediatric Intensive Care, his diet was changed and Arginine was started. After a pretty rocky road and may diet changes, we found the "magic recipe" for Noah. Since starting treatment he has done really well, maintaining levels in the normal range. He is also on Buphenyl which I believe has also helped.
     Noah is now a year and a half and is developing on target. He is rather slim but is growing taller by the day. He eats 8 grams of natural protein a day from foods and dreens from 12-16oz of Cyclinex2 with 2% milk added for extra protein. He is currently taking 6 grams of Arginine a day and has recently been takne off Buphenyl. His ammonia levels have been good and he developing normally. He is running everywhere and getting into all his big brothers stuff, so he is normal.
     I feel its very important to share our story and spread hope that children who are detected through newborn screening have a better chance at living a perfectly normal life. We are grateful for the newborn screening (New to our state), we feel that it saved Noah�s life. We thank all the other kids who came before Noah who maybe were not as fortunate as he is (to have been screened at birth). They are the real heroes. And despite the extra care and all the ups and downs, raising Noah has been nothing short of a gift from God, and we feel blessed to have him.

Noah Daniel O'Connell

Parents: Dennis & Cris O'Connell
E-mail: [email protected]
Birthday: October 29, 2002
Home: Elmhurst, Illinois
Age at Diagnosis: 3 weeks
Other Siblings: 2 unaffected
Meds: Arginine
Liver Function: Normal
Developmental Delay: None
* Noah has never shown symptoms of ASA,
we only found out because of
Newborn Screening.

Noah's Information as of
June 2004

Noah was born October 29, 2002, a healthy baby boy. He weighed 8 lbs 12 oz and measured 21 3/4 inches long. It was a normal pregnancy and delivery. I won't forget the phone call that changed our lives forever.