28th June was ‘International PKU Day’ – a special day in the calendar to raise awareness of the rare metabolic condition that affects one in every 4,500 babies born in Ireland every year. People just like little Greyson Joyce from Co. Meath who is treated here in Temple Street.
Greyson’s Temple Street journey began at just two weeks old when his routine newborn heel prick test revealed that he had a rare metabolic condition called PKU (Phenylketonuria). His diagnosis meant that he would have to live on a protein restricted diet for life – as he was lacking in the enzyme needed to break down an amino acid that is found in most food. Untreated – PKU can cause serious and permanent neurological damage.
Mum Rachel says that she was terrified bringing her brand new little boy to hospital for the first time. “I can’t describe the fear I felt. I remember walking through the doors of the hospital sobbing, holding my newborn.”
The family were brought to St. Ultan’s Metabolic Unit where they met with the medical team who confirmed the diagnosis. Little Greyson was admitted to St. Brigid’s Ward where he would stay for the next five days as his blood levels were brought back to normal.
And during that time, the family learnt how to carry out the essential weekly blood test that Greyson needs to monitor and manage his PKU. Rachel says, “It was so difficult to inflict this pain on my newborn but it is now a part of normal life for us. He began taking a synthetic protein, which he will remain on for life.”
Rachel also had to learn about his dietary therapy, which she describes as a ‘complex balancing act’ that places restrictions on food that most of us take for granted – even simple fruit and vegetables. In his first days he couldn’t even be breastfed, but Rachel says that thankfully they were able to partially reintroduce it once his condition was stable.
It was a frightening and uncertain time for the family, but Rachel says that for all the sadness she felt in the first week, some amazing people came into their lives. “The metabolic dieticians helped us to learn about Greyson’s condition and now call us each week with blood results and the dietary plan.”
She adds, “Maria Regan was Greyson’s nurse at the time of his diagnosis, but she was so much more than that. She helped us to come to terms with his condition as a family, she listened to all our concerns and worries and she took care of me so that I could get through that time and be the best mother I could be. She will always be such an important person in our PKU journey.”
These days, Greyson attends St. Ultan’s Metabolic Unit regularly and loves playing there – only complaining when it is time to be examined! Rachel says, “What always stands out for me is that everyone has time for my son. He is never overlooked at appointments and staff always make an effort to talk to him.”
She adds, “International PKU day is a very significant date. Often families living with PKU minimise the condition, but today is a day is recognise all those people. It’s a day to place value on the people that are progressing well on their PKU journey and also those who are struggling. It’s a day to remember all those people who had a late diagnosis, many of which are now institutionalised. It’s a day to be grateful for all those people caring for those living with PKU and other rare metabolic conditions.”