We'd like to share the story of Emily, one of our Non-Clinical Performance Managers in Derby, who courageously raises awareness about a deeply personal issue that has profoundly affected her family for the past few years.
Emily's son, Oliver, battles Phenylketonuria (PKU), an rare condition affecting approximately 1 in 10,000 individuals. June 28th marked International PKU Day and Emily, alongside her supportive colleagues, joined forces to promote NSPKU, a charity dedicated to offering information, resources and research for those impacted by PKU.
“My son Oliver suffers from Phenylketonuria (PKU), a rare but potentially serious genetic condition which affects around 1 in 10,000 people. He is two and a half years old now and was diagnosed with PKU at his heel prick test which he had when he was only five days old.
“People with PKU cannot break down the amino acid phenylalanine. Phenylalanine in high concentrations is toxic to the central nervous system which then builds up in their blood and brain. This can lead to irreversible brain damage. Oliver is currently on 15 grams of protein a day thanks to the trial drug Sapropterin as before this he was only able to have 7.5 grams of protein per day. Sapropterin is used to lower blood levels of phenylalanine in people with a certain type of PKU although we are unsure if he will be able to continue this due to it only being a trial. When you look into what 15 grams of protein looks like, it really isn’t much – a slice of bread for instance has a little over 4 grams of protein.
“Oliver can't have meat, eggs, dairy, tofu, Quorn, Lentils, the list is endless. These are all high in protein and we must monitor the intake he has of other foods such as vegetables, cereal and pasta. In addition to this, Oliver has amino acid supplements three times a day to ensure he is getting all the nutrients required for normal growth and good health.
“When Oliver was diagnosed, we had to take him straight up to Sheffield Children’s Hospital for further testing and he immediately had to start treatment. This means he will be on a special diet for life and have regular blood tests which he currently has once a week, as well as regular contact with his own dietitian and appointments at Sheffield Children’s Hospital.
“Oliver is growing normally and he is the most funny and kind little boy. He’s fit and healthy, in fact you wouldn’t know he has to cope with this every day! As long as we keep up with this strict diet for life, Oliver will continue to grow and develop like any other child would.
“International PKU day was the 28th June and I love to celebrate this now and raise awareness. The NSPKU (the chosen charity) have been a fantastic support, not only to myself but also people who have PKU and parents of children who have PKU.
“The funds they raise also go towards testing of further foods to find out how much phenylalanine they contain to find out how much people with PKU can have. Also they are a great support – especially when we first found out, which, as you can imagine, was a massive shock. I feel the NSPKU deserve any funds raised for PKU, which is close to my heart.”
We would like to thank everyone who got involved in PKU Day and if you would like to support the cause, you can visit our Just Giving page here.