The newborn screening saved my daughter’s life
IN the first foggy days after I gave birth to my baby girl, Lily, it barely registered when a midwife popped in to take a small sample of her blood, explaining it was for the Newborn Screening Test. Non-compulsory and free for all babies born in Australia, the test is quick and painless for bub - a quick prick of their heel and a few drops of blood placed on a screening card that's then sent off to a lab.
We were in a haze of visits, check-ups, nappy changes and learning to cope with the realisation that we were now responsible for a tiny human, so I never gave it a second thought. I had no comprehension of how vital the test is, or how incredibly lucky we are to have it available to us in Australia, but in the following days, it saved my daughter's life.
The test checks for around 20 rare genetic, life-threatening disorders. In our state of NSW and ACT, over 100,000 babies are screened per year and about 120 are diagnosed with a serious genetic metabolic condition. Lily turned out to be one of them.
Two days after that little heel prick, I noticed she wasn't feeding well and seemed quite lethargic. I couldn't get her to latch on properly and she had turned quiet. As disturbing as these symptoms sound to me now, we were new to this newborn business, so weren't even aware that we should be concerned. When I casually mentioned to a midwife that she hadn't fed in six hours, the alarm on her face as she took Lily's temperature indicated that something was very wrong. They immediately rushed her out of my room and I was left alone, completely bewildered.
On admission to special care at three-days-old, she was hypoglycaemic. The next time I saw her, she was lying in a humidicrib hooked up to feeding tubes and monitors. No-one could tell us what was wrong, and panic (for me) and confusion (for the doctors) was setting in.
For nearly three days we waited and Lily was strictly monitored. As she was in a humidicrib, I soon learnt how to express and bottle feed to an intense 2-to-3 hour around-the-clock schedule, each time making the long walk up to her special care unit from my room back on the ward (an agonisingly slow and painful journey when you've just had major abdominal surgery).
As Lily steadily improved and we still had no answers, I began to wonder if it was just some freak episode. I ran over ridiculous scenarios in my head - had she been too cold or too hot in our room? Was it something we had done wrong? Then, the newborn screening results arrived. Lily had a rare genetic metabolic disorder called Medium-chain acyl-CoA dehydrogenase deficiency, commonly known as MCAD.
Instead of being able to take a healthy newborn straight home, we were told our daughter had a life-threatening, lifelong condition. We had never heard of it, certainly couldn't pronounce it and generally didn't understand what was happening. She was just six days old - so tiny and helpless - and now we really had no idea what was in store for us.
In the following days (spent Googling, questioning, stressing and certainly not sleeping), we would discover that although rare and incredibly serious, MCAD is easily managed and is a condition many people around the world deal with daily. We realised that many families face far greater challenges, and we could handle this one with our strong support network.
Lily has MCAD for life. She is unable to convert certain fats into energy to keep her blood sugar stable, which means she can never go for long periods without eating. This means no refusing food when she's sick, or if she just doesn't feel like it - her body cannot draw on her fat reserves so she needs to be constantly 'topped up' with calories. In short, if she doesn't eat, her blood sugar will plummet and she is at risk of seizures that can lead to organ damage, coma and worse. It meant waking her every 2 hours for feeding in her first six months (none of that joyful 'sleeping through' for us!). Now, at 17 months, she still feeds regularly throughout the night.
It means daycare, basically, a bug breeding ground has necessitated more than one trip to emergency. And it means I'll always anxiously monitor her snack intake and worry constantly about how all of this is going to affect her as she grows older. It's been stressful and exhausting at times, but both my husband and I know that things could have been so much worse.
MCAD is now an unavoidable part of our lives. But, looking at Lily, you'd never know there is anything different. And she's pretty damn cute - a gorgeous, happy and hilarious toddler, approaching life with all the fearlessness and unbridled joy that's so special about this age. She currently sports an adorable shaggy blonde mullet I can't bear to cut, loves dancing to the Wiggles, eating peas and bolognese, and growling like a tiger. Her MCAD is just a small part of who she is, and we intend to raise a fearless little lady who can handle it. We're just so lucky that we live in a country where the newborn screening is available to save babies just like her.
This article originally appeared on Kidspot and has been republished here with permission.