Charlotte's story

Charlotte

Many children love to eat pizza, hamburgers and chicken nuggets, but they're all things that could be damaging for Charlotte.

Charlotte is nine years old and has phenylketonuria or PKU.  Phenylalanine is a building block of protein, and Charlotte's condition means that her body can't break phenylalanine down. 

If she had too much in her bloodstream, it would initially make her feel tired, grumpy and affect her concentration.  In the longer term it would affect the development of her brain and the damage could be permanent.

PKU is one of the genetic disorders that doctors check for at birth with the heel prick test. 

This is how Charlotte was diagnosed.  Knowing straight away that she had the disorder meant that her parents could make sure she had the right food from day one.

"I often go to Pizza Hut with my friends but I can't eat the pizzas!" says Charlotte.  "They have too much protein in them.  I can only have potato wedges and salad.”

Trips to the supermarket take a bit longer as Charlotte's mum, Dawn, has to read the labels on everything they buy.  Phenylalanine can be hidden in a variety of foods, from chewing gum to squash.

Charlotte making her special biscuits

The family do a lot of cooking at home so they know exactly what's in each meal. 
"We make our own cakes and biscuits," says Dawn.  "You can buy ready-made ones but they don't taste great, ours are much better. 

Going out for dinner can be a problem but our local Italian restaurant is really helpful.  They keep Charlotte’s special pasta so that we know she’s going to get a proper meal every time we go."

Charlotte has to check the levels of phenylalanine in her blood and because she eats a lot of sugar, she has to make sure she cleans her teeth well.  To help her body to grow properly, she has a protein supplement which she drinks three times a day.

She's learning to manage her condition well and as she grows, Charlotte will be able to increase the amount of phenylalanine she can have.  But her genetic disorder isn't much fun as a nine year old with lots of friends.

“It’s really hard when my friends have birthday parties.  They can all eat the same things and have whatever they want, but I have to take my food with me.  It does make me feel a bit left out sometimes but I know that it’s really important that I eat the right things.” Birthday parties aren't so much fun for Charlotte