My son is 6 months old and at 5 days old he was diagnosed with PKU from his heel prick test. Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated, PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. This is why they test for it so early as although it is rare people with PKU have to go on a special diet immediately.

Our bodies break down the protein in foods, such as meat and fish, into amino acids, which are the "building blocks" of protein. These amino acids are then used to make our own proteins. Any amino acids that are not needed are broken down further and removed from the body.

People with PKU cannot break down the amino acid phenylalanine, which then builds up in their blood and brain. This can lead to brain damage. When levels are high people also complain of headaches, lack of concentration and forgetfulness. 

Oliver our little boy is currently on 85ml of SMA formula 3 times a day and then I have to give him a formula called "Anamix Infant powder". Now Oliver is starting to grow and begin weaning he will be allowed "exchanges" which is a certain amount of protein, currently he is allowed 1g of protein a day which equates to 9g of a weetabix (around half) this has to be weighed and he then has to also have another supplement two a day called explore 5. Oliver is currently on around 4 - 5 exchanges a day. Which isn't a lot when you look at how many grams of protein is in certain foods. Things like chips will have to be weighed as well as broccoli and peas for instance as these are high in protein. Things like tofu and quorn are obviously a no go for him either as they are also really high in protein so Oliver will be prescribed certain low protein foods such as low protein pastas and bread. Also with PKU because of Olivers age at the minute we have to do a blood test for him and send it off weekly to the lab to find out what his levels are like. A dietician will then contact us to tell us if we carry on with what we are giving him protein wise or if his levels are too high or too low then they will advise on changing the protein intake.

I understand this is a bit confusing for you as it was for me - I have a 4 year old daughter who doesn't have PKU and I had never even heard of it before Oliver was diagnosed.


NICE have approved a drug "Kuvan" for children under the age of 18 years and only 10mg through the NHS. This drug is for people with PKU and some people have responded really well and managed to be able to have more exchanges. Not only that some have been able to live a more normal life due to being able to have more protein daily.  Unfortunately some people do not even respond to the drug until atleast 20mg. Not only that NICE have said once reaching the age of 18 that it will no longer be funded. My concerns with this is that at 18 years if you have responded well to the drug and say for instance you have gone from 4 grams of protein to 10 grams of protein a day. They stop the drug at 18 years and yiu then have to go back down to minimal exchanges - also you could be going to university for instance which could be stressful enough.

I am going to take part in a number of events for NSPKU to not only gain awareness around PKU but to support NSPKU and everything they do for the PKU community.

I will be holding my own online raffle with prizes to win and raising money for NSPKU. Every £2.50 donated will qualify for a strip of tickets and automatically be added into the draw. Once we hit our goal I will contact everyone and run the raffle! If you wouldn't like to be involved in the raffle and just wish to make a donation that is absolutely fine and greatly appreciated! 

More events to follow.... keep your eyes peeled!

NSPKU

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