Evan M.

Evan is 4 and he was diagnosed with Propionic Acidemia when he was four days old. normal pregnancy,  normal delivery and evan arrived a healthy 7lbs 11ounces three days early.  On day 3 he was getting very lethargic, he wasnt feeding and was breathing funny from his nose, like he had a cold.  He was brought to the Special Care Unit by a nurse and we were told he would be back up soon so we presumed it was just to be checked out. An hour later, he was on a ventilator as doctors were afraid he would stop breathing.  A number of tests were done and doctors in Cork narrowed it down to a Metabolic Disorder but they were not the experts in this field, The Metabolic Center of Ireland is in Dublin so Evan was transferred up when he was 3 days old where they diagnosed him the day after.  Evan was in the hospital for 3 months until well enough to return home.  Since then he has been admitted to the local hospital a handful of times, for flus, bugs and infections but thankfully since birth he has had no major decompensation.  He has a good enough appetite and drinks his XMTVI Maxamaid orally during the day and eats about 6 of his restricted 8 exchanges of protein orally, however, anything he does eat has to be liquidised with no lumps whatsoever.  He also has a continued feed during the night through PEG Tube. We travel to his doctor in  Dublin every 3 months for check ups, where they take blood and check his levels are normal, and we speak to dieticians etc.  Evan is a wonderful, happy, sociable, and boisterous 4 year old , he struggles with speech and communication which can get him frustrated and he has regular speech therapy, physio and occupational therapy.  Evan has been on a waiting list for an Auxiliary Liver Transplant for 7 months now.