Lived Experience of a Rare Health Condition

Monique Cooper

When Charlie was born, we left the hospital as a perfectly healthy boy. We had the routine heel prick test done and didn’t think anything of it. We went home and had 7 magical days with our beautiful son, until walking through Coles, I got the phone call.

We were asked straightaway to bring him into hospital. I’d actually been screening my phone calls for a number of days and this persistent caller kept coming through and, eventually, when I answered it, your world just stops. It’s a bit of a blur, really. There’s a lot of uncertainty and a lot of unknown. On day 11, he was diagnosed with PKU or Phenylketonuria. In simple terms, his body can’t break down protein, which means toxins build up in his blood and, if untreated and unmanaged, causes permanent brain damage.

The only treatment for PKU is a strict low protein diet, which means no meat, no nuts, no eggs, no dairy, rices, pastas, legumes. “Put your banana in, yeah.”. So, it really eliminates most food groups that Charlie can safely eat. “Here you go. You can get your special bread out. Take that. Put that up there. That’s good. You sure love your grapes, don’t you?”. The timeliness of the newborn blood spot screening program is critical. We’re very fortunate that Charlie was picked up at birth and put on this medically-controlled diet and now, as a 9 year old boy, he’s thriving. He plays basketball, he plays football. He’s one of the most active boys that I know.

The newborn blood spot screening program in Australia is a critical program. It’s what saved Charlie’s life. It’s bittersweet, having PKU, because it’s a really difficult condition to manage “Take it off. That’s it” but we never lose sight of the fact that it can be managed. It really does hit home. What could have been? “Good one, push it again.”. Charlie may well have had permanent brain damage by the age of 1. That’s irreversible. If a parent decides to opt out of newborn screening, unfortunately, that can be the consequence. So, you know, it’s a simple heel prick test when that baby’s tiny and, yes, they cry but it’s essential and it’s what saves their lives and if I had to do that again and again for every child, I would. To know that the program exists in Australia and all babies are screened for parents like us, really means a lot.

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Every newborn baby in Australia is offered a newborn bloodspot screening test to identify those at risk for rare, but serious, medical conditions including PKU, hypothyroidism and cystic fibrosis.

Lived Experience of a Rare Health Condition

Monique Cooper

When Charlie was born, we left the hospital as a perfectly healthy boy. We had the routine heel prick test done and didn’t think anything of it. We went home and had 7 magical days with our beautiful son, until walking through Coles, I got the phone call.

We were asked straightaway to bring him into hospital. I’d actually been screening my phone calls for a number of days and this persistent caller kept coming through and, eventually, when I answered it, your world just stops. It’s a bit of a blur, really. There’s a lot of uncertainty and a lot of unknown. On day 11, he was diagnosed with PKU or Phenylketonuria. In simple terms, his body can’t break down protein, which means toxins build up in his blood and, if untreated and unmanaged, causes permanent brain damage.

The only treatment for PKU is a strict low protein diet, which means no meat, no nuts, no eggs, no dairy, rices, pastas, legumes. “Put your banana in, yeah.”. So, it really eliminates most food groups that Charlie can safely eat. “Here you go. You can get your special bread out. Take that. Put that up there. That’s good. You sure love your grapes, don’t you?”. The timeliness of the newborn blood spot screening program is critical. We’re very fortunate that Charlie was picked up at birth and put on this medically-controlled diet and now, as a 9 year old boy, he’s thriving. He plays basketball, he plays football. He’s one of the most active boys that I know.

The newborn blood spot screening program in Australia is a critical program. It’s what saved Charlie’s life. It’s bittersweet, having PKU, because it’s a really difficult condition to manage “Take it off. That’s it” but we never lose sight of the fact that it can be managed. It really does hit home. What could have been? “Good one, push it again.”. Charlie may well have had permanent brain damage by the age of 1. That’s irreversible. If a parent decides to opt out of newborn screening, unfortunately, that can be the consequence. So, you know, it’s a simple heel prick test when that baby’s tiny and, yes, they cry but it’s essential and it’s what saves their lives and if I had to do that again and again for every child, I would. To know that the program exists in Australia and all babies are screened for parents like us, really means a lot.

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