My Auntie Karina is quite possibly the eldest lady in the UK with untreated PKU. She will be 80 years old this June. So to celebrate her this year, I would love your help.....

To explain - Phenylketonuria (PKU) is a serious, lifelong, rare inherited metabolic condition that will cause brain damage if it is not correctly treated. In PKU an enzyme deficiency results in an inability to metabolize the amino acid phenylalanine into tyrosine. This deficiency results in an increased concentration of phenylalanine in the blood and in the brain which, in turn, causes brain abnormality and cognitive impairment. Sadly back in the 1940s when Karina was young, PKU was unheard of and certainly untreatable; so as a result she has severe learning difficulties and is now bed bound.

Luckily medicine has significantly moved on and now every baby in the UK is tested for PKU by a new born screening test at 5 days old (the heel prick test).

The treatment is a phenylalanine/protein restricted diet, although a small number of patients are also helped by a drug. The special diet controls the level of phenylalanine (an amino acid) in the blood. There are many components to this diet:

1. The avoidance of high protein foods such as meat, fish, eggs, cheese, ordinary bread, cakes, biscuits, flour and pasta. These foods are substituted with very low protein foods such as special low protein bread and pasta which are obtained from the GP on prescription.

2. The allowance of a small amount of phenylalanine each day provided in measured amounts to give minimum phenylalanine requirements. This is given in the form of an exchange system. Too much phenylalanine can cause blood phenylalanine levels to go high. Too little can cause phenylalanine deficiency, so the correct balance is essential. Most children are allowed only around 4g protein day. This is equivalent to 1 large slice of bread.

3.Taking a protein substitute/replacement three times daily. This drink tastes horrendous.

4. Many fruit drinks, lemonades and squashes contain aspartame. This is a sweetener that is broken down into phenylalanine. All drinks must be aspartame free.

This year I reached out to Anita Macdonald who is a doctor dietitian at Birmingham Children's Hospital. Her work has been instrumental in pushing PKU research forwards. Talking to Anita is simply inspirational - I had to get involved in the fantastic work she is doing, particularly for children with PKU and their families.

2 years ago the 'PKU Bite App' was launched. This was developed to assist parents, nurseries and schools caring for children with PKU. It is informative giving basic information about food groups and overall diet.

However, a specialist team at Birmingham Children's Hospital have set their sights on developing the app further. They would like the app to be able to keep records about children's blood phenylalanine levels (and chart them out) along with any circumstances that may explain why blood levels are out of target range. The children monitor the control of their condition by doing regular blood tests to measure the amount of phenylalanine in their blood. Having the app record this information will significantly help the medical teams better look after children under their care.

This is the project I am fundraising for. PLEASE help me raise £4,000 which will enable the app to be further developed to include this blood monitoring feature. All the money I raise will go straight towards this project!!

In return, I shall be putting myself through some paces. I am taking on several multi terrain running races and adventures this year, totalling circa 150km:

13th April - 22km off road race in the Mendip Hills National Park

28th April - 21km Coventry Half Marathon

1st June - Peak District Off Road Marathon

26-28th July - Chamonix - Mountain Running Adventure (circa 65km)

Any donation, large or small would be very much appreciated, your generosity will absolutely help improve the lives of young children living with PKU.

Huge thanks,

Nix