The story of Samantha
My son Noah got diagnosed with a rare genetic disorder called phenylketonuria (pku) when he was 9 days old. It came up after he had heal prick test, getting a call from rvi was scary and also worrying. Me and his dad (Shane) had to go to rvi a day after getting the call, when we got there we were met by a consultant and dietitians telling us more about this rare condition that we have never heard of. Noah’s condition means his body can’t break down amino acids, so the amino acids that’s in his body will stay in his bloods and depending on how much protein he has a day it can effect his blood levels which can cause him to have behaviour problems or have seizures if not treated properly if his blood levels are high. Every week I do Noah’s bloods and get the blood results later on the week by call from rvi, which is what needs to be done for the rest of his life as there is no cure for this condition. Most days can be challenging when comes to food as Noah can’t eat anything high in protein but also can’t eat meat, fish, eggs, nuts and dairy. With Noah having 2 older brothers he often likes to have the same foods as them and telling him he can’t as it will make him poorly, at the age of 4 he doesn’t fully understand. He also has a baby brother and luckily he doesn’t have pku. Noah has to have supplements 3 times a day which is his medicine but also like a replacement of an egg, luckily Noah has his foods on prescription, if we didn’t we wouldn’t of been able to afford the foods that he needs so makes it easier for us to get the food for him that he’s allowed to have. On his birthday I make his cake from scratch that is protein free and free of things he can’t eat which I enjoy doing, telling people about Noah’s condition they think he’s vegan but when I explain more about it they start to understand about his condition. Being Noah’s carer since he was a baby can be stressful and challenging when comes to giving Noah the right foods, doing his bloods. Noah’s blood levels can only be at certain range not too high or too low, every few month we see his consultant and dietitians for review at the hospital. Noah may have this condition but he is still a happy little boy and in this family we never give up.