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Sarah Rudd avatar
Sarah Rudd

Sarah Tilley' page

I am running Brighton Marathon for NSPKU for N.S.P.K.U. because my baby Nephew has PKU

157 %
£785.00
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by 47 supporters
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  • Event: Brighton Marathon 2017, 09 Apr 2017

N.S.P.K.U.

We exist to help & support people with PKU. to promote the care & treatment of PKU's.

Charity Registration No. 273670

Story


Thanks for taking the time to visit my JustGiving page.

We will be carrying out various events to raise money for NSPKU.... 

I will be runnning the Brighton Marathon 9th April 2017

Our beautiful Nephew Max was diagnosed at birth with a rare inherited metabolic disease PHENYLKETONURIA (PKU) which left untreated can cause brain damage.
PKU is where the body lacks the enzyme phenylalanine hydrolase which in the majority of people this enzyme converts phenylalanine otherwise known as PHE (1 of 20 amino acids that makes up protein) into tyrosine.

People  with PKU are unable to convert PHE into tyrosine leading to a build up of PHE in the blood which can lead to brain damage.


Currently the only way to manage the condition is through a very strict diet eliminating foods that contain high levels of protein such as meat, fish, milk,eggs, cheese, nuts and any foods/drinks that contain an artificial sweetener called aspartame found in most diet fizzy drinks, squashes, cordials, chewing gum and some medication. 


As protein is essential for the growth and development a small amount must be given in measured doses as advised each week by a dietician this will be through foods such as potatoes and cereals. (For now it is just through baby milk) 


The only way to monitor Max's or any other PKU patients blood levels is through a weekly blood test which we take at home and send off to the lab and await the results. Max's Dietician then calls a couple of days later with the results and a plan as to how we need to proceed with his protein intake. 


Testing for PKU has only been around in the U.K. since the late 1950s therefore not much research and development has been carried out for the condition. My hope for the future is for somebody to design a home testing device which will allow pku patients to monitor their PHE levels much closer and therefore take immediate action if levels are above the crucial range they need to stay within.


The NSPKU (National Society for Phenylketonuria) exists to assist those with PKU and their families in managing this highly specialised diet and to promote further research.

Thank you for taking the time to make yourself aware of this condition I would love for you to share this with all of your friends and family to raise awareness of this condition and ultimately to raise funds towards this great charity to further the research and development of PKU to make life easier in the future for PKU patients and their families.

Happy New Year and Thank You all in advance for your support and donations :)

Donating through JustGiving is simple, fast and totally secure. Your details are safe with JustGiving – they’ll never sell them on or send unwanted emails. Once you donate, they’ll send your money directly to the charity and make sure Gift Aid is reclaimed on every eligible donation by a UK taxpayer. So it’s the most efficient way to donate - I raise more, whilst saving time and cutting costs for the charity.





Thanks for taking the time to visit my JustGiving page.

Donating through JustGiving is simple, fast and totally secure. Your details are safe with JustGiving - they'll never sell them on or send unwanted emails. Once you donate, they'll send your money directly to the charity. So it's the most efficient way to donate - saving time and cutting costs for the charity.

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