Fundraiser by Emma Rowe: Phenylketonuria (PKU)

Hello my name is Emma and I'm raising money for the PKU Association. Phenylketonuria (PKU) affects 1 in 10,000 in the UK and It is an extremely rare inherited disorder.

This rare condition is treated with special supplements and a very strict diet. We are lucky enough to have amazing help from dieticians in the metabolic unit at Bristol children’s hospital.

I ask for your help because, well here is our story. Our daughter Nova was born on the 11th of August 2023. At just 10 days old after a heel prick test we got the most horrible phone call and travelled up to Bristols children hospital for more blood tests. She was given special formula and we discussed what life would be like for her as she grows older. People with PKU lack the ability to break down a single amino acid that is found in protein. Eating the same diet as you and I would lead to a buildup of phenylalanine in the blood and ultimately result in permanent brain damage. Currently there is no cure for PKU, and the only real treatment is what doctors refer to as, “diet for life” (special phe-free food), weekly blood tests for the rest of her life and daily medication. So, to put this into perspective, the average person consumes 60 to 70g of protein daily, Nova’s intake will be significantly less than this, less than 10g’s a day. As a result of her diagnosis, Nova will never eat most common foods such as; meat, poultry, milk, eggs, nuts, oats, soy, tofu, dairy, beans, white/wheat bread, pasta, deserts…basically anything over 1g of protein per serving.

I will never forget the emotions, worries, fears, and unknowns I have felt in these last 3 days. I’ve been restlessly worrying about my daughters future and doing everything i possibly can to educate myself about PKU so I can give Nova the most healthy, normal and happy upbringing possible.

Funding is lacking because these diseases are so rare, but with generous donations we hope to bring them to the forefront of medicine. Please consider joining us as we "fight phe 1 gram at a time"! Any and all donations greatly appreciated.