REAL LIFE: “I have a rare metabolic condition and being pregnant is challenging. I’m on a strict diet to protect my unborn baby.”

By Casey Steel

A heel prick when I was a few days old was the start of a lifetime of blood tests and a diet that is now helping me as a pregnant mum to protect my own baby.

I have phenylketonuria (PKU), one of the rare genetic conditions for which every newborn baby in Australia is screened. Those of us with PKU lack the enzyme that breaks down phenylalanine, one of the amino acids found in the protein in food. Essentially it means a diet for life because you need to prevent the phenylalanine from building up in your blood and brain.

My food intake has been tracked since I was a baby. It was very strict when I was a kid because my brain was developing. Everything was weighed and written down in a little diary. I would be able to consume only a few grams of protein in a day and had to take a special formula to give me the proteins and nutrients that I missed out on in food.

It was challenging for my parents to navigate, especially with a fussy toddler. Even as an adult, I still get weird looks from people because the formula doesn’t smell or taste all that nice. Dairy is pretty much off limits, and I’ve never tried meat.

I’ve always wanted to be a mum. I’ve also always known that pregnancy and PKU would be a challenge because high phenylalanine levels could harm my unborn baby. My doctors had always warned me about what could happen if I fell pregnant unexpectedly and didn’t have proper management of my diet. Because of this, I was on a pre-conception diet for months before trying to fall pregnant.

PKU is a lifelong condition: you don’t grow out of it; you need to manage it. It’s monitored through regular blood spot or finger prick testing on little cards. During pre-conception and pregnancy, the blood testing went to the next level. I’ve had more than 50 blood tests during my pregnancy. The goal is to protect the growth and development of my baby.

While living in northern, central, and now southwestern Queensland, I’ve had the very best medical support throughout my life. The Queensland Lifespan Metabolic Medicine Service has been invaluable in providing me with gold-star care. Some of the practitioners that I am in contact with regularly have seen me since I was a baby. It’s a very full circle feeling.

Living in a rural town of about 1,700 people when I got pregnant, my nearest major hospital was two hours away. I would liaise with my local hospital, drop samples in each week and do regular nutritional bloods. The Lifespan metabolic dietitians would then adjust my phenylalanine intake each week depending on my blood results.

At the beginning of my pregnancy, my levels weren’t coming down to a safe PKU pregnancy level and I had to be admitted to hospital in Brisbane to stabilise them. For the first trimester, I had terrible morning sickness, which meant I couldn’t get the right nutrition and calories in, and my phenylalanine levels were spiking. So, it was back to hospital in Brisbane for a week so they could get fluids into me and ensure I was once again tolerating food.

PKU has never stopped me from doing what I wanted to do in life, through my studies and career.

I’ve maintained healthy phenylalanine levels throughout childhood and adulthood, largely thanks to my parents. The additional challenges have made everything worthwhile as I journey into motherhood!”