Archie

PA

Archie was born March 10, 2001, weighing in at 6lb 12oz and all seemed well, we had the perfect baby he never cried and hardly woke! At my 6 weeks check up I was told to get him to Gloucester Royal Hospital because his breathing was all erratic. They informed us we were over reacting there was nothing wrong, strange as it was the doctors that picked it up not us! As he got older we realized things were not right, by 10 months this perfect baby still did nothing but lie there. 

Now concerned, we take him back to the doctors and get referred to a specialist, where we are told of his developmental delay, For months we accepted this ‘diagnosis’ until my husband spoke up and said “when does delay turn into concern?” At this point he is diagnosed as having “chronic Autism!” The specialist after a few months decided there were more issues showing up, so he took more tests, and then the same test 3 more times as she could not believe the results… Then all hell broke loose!!! His bottle I was feeding him with at the time was taken from his mouth and we were told that basically we had been slowly killing our perfect son and had given him brain damage as he had the rare condition “Propionic Aciduria”…To say the least we were shocked what had we done to our perfect baby!!

He was instantly put on a low protein diet and we were referred to Bristol Children’s Hospital under Dr. Hamilton Shield, a Metabolic Specialist. He is put on Biotin and Carnitor (I wasn’t sure what this does, but give it him anyway as they say its best.) He has had a few “episodes” as they call it, the last one being the worse. Our hospital closes at 8pm and the next closest one refused to take him as he was so ill. Dr. Hamilton Shield called the rapid response team up from Bristol and Archie is transferred to the intensive care unit. We dread to think what would have happened otherwise. We were warned he may not make it to Bristol. But all well in the end!

He is in main stream school and about 2 years behind children his age. He is a lot smaller than other children his age, looking more like a 5 year old, They told us he would not walk or talk and probably not make it to 6. Well they were wrong again — he does not stop talking and runs around all the time. Albeit, he gets tired quicker then most. Archie is now 8 years old, so we take what the specialists say “with a pinch of salt.” Nothing has ever really been explained to us what we know is what we found on internet. The dietician gave us a one day menu we had to call after a month and say this is not right. How can a child eat the same thing forever, every day? My friends helped more than dietician and now we are protein experts!

They told us he wouldn’t live past 6 but thanks to the internet (and Facebook) we have found Kathy who has a 20 year old daughter… Happy Days!

Take Care and Keep Smiling,

From the Summer 2009 OAA Newsletter