“Congratulations… It’s a boy!”
With those words, our precious little son River was welcomed to the world on the 12th July 2019. He was a handsome baby with cute little features, who nestled straight into Mummy, debuted as the new junior to his two older brothers, and was the final piece of the puzzle to complete our amazing family. Happiness and love surrounded River and we couldn’t have been more thankful for our perfect little blessing!
Life however was about to change… a phone call on Day 8 from our paediatrician proceeded to rock our world. We were required to rush into the Adelaide Women’s and Children’s Hospital first thing in the morning, as River’s neonatal screening test had resulted in an abnormally high Phenylalanine level in his blood and the paediatrician suspected that he might have a serious genetic metabolic disorder called Phenylketonuria (PKU). That evening, Dr. Google proceeded to instill a fear into what this disorder would mean if not treated accordingly. Permanent intellectual disability, brain damage, seizures, and developmental issues were some long terms effects just to name a few. All very frightful impacts on a tiny brain which had only a mere few days to develop in this world. With no definitive answer as to whether River would be diagnosed with PKU, our minds were left racing with so many questions and we were both a bundle of nerves until the next morning.
After a night of restlessness, we made of our way into the Women’s and Children Hospital and were greeted by the hospital’s metabolic team. They proceeded to explain River’s test result and everything we needed to know about PKU and the strong likelihood that River had indeed been born with this disorder. Much to our dismay, the team confirmed the seriousness of the disorder and the associated symptoms and long term effects that was potentially in store for our little son. Depending on the severity of River’s PKU, we were offered a medical glimmer of hope in the form of a drug called Kuvan. Born in July, we were extremely fortunate that the drug had recently been placed onto the Pharmaceutical Benefits Scheme (PBS) in May. The doctors wanted to trial Kuvan on River to see whether his body would respond and effectively assist in bringing his level of Phenylalanine down when exposed to excessively high levels.
Tests and trials ensued over the next few days and River was tested with Kuvan to see if his body would respond. If his body did not respond to Kuvan, then he would be living a life with a very restricted protein diet in order to keep his Phenylalanine levels in a safe range, to prevent damage to his brain. We prayed and prayed with all our hearts in the hope that Kuvan would work for River. The phone call we got from the doctor to say that Kuvan had successfully assisted in bringing down River’s Phenylalanine levels was one of the happiest and relieved moments of our lives! Kuvan was a success for River, his body had responded! Life would still be difficult, however the benefits of Kuvan would mean that River’s life would be made so much easier.
Kuvan has been River’s best friend for his 2 years and 9 months of existence in this world. His daily intake of Kuvan means that he can effectively eat many foods that would normally be unsafe to consume due to high protein levels. River can eat like his brothers and effectively lead a relatively normal life if his condition is managed accordingly. River continues to grow normally and to developmentally thrive and defy all odds. He has an extremely entertaining personality, loves to sing and dance, is the sweetest of kids, and has made his parents so proud that he is battled his way through all adversity to be where he is today.
To this day, our family is profoundly indebted to the metabolic team for their time, patience, care, positivity and expertise in their assistance with River. Kuvan has been life changing for River and will continue to protect his brain health for life. With the positive impact that Kuvan has had on River’s life, we strongly believe that all Australians living with PKU should have access to all treatments that have been approved as safe and effective by the Therapeutic Goods Administration (TGA). For Kuvan to be available to adults over the age of 18 would mean the world of difference and effectively forever change the lives of people that are living with PKU.
We would love for the Pharmaceutical Benefits Advisory Committee (PBAC) to strongly advocate that Kuvan, and the new subcutaneous drug Palynziq, be listed on the PBS for all adults. Kuvan has changed the life of our little PKU warrior prince and if it could assist in positively changing the lives of the many unique and special people diagnosed with PKU, we would be incredibly grateful and appreciative!
Brendon & Trudi.