New PKU Parent Guide

So… you have been told your child has Phenylketonuria, or ‘PKU’ for short. You have never heard of it before, and certainly can’t pronounce it. You need some reassurance.

First things first, don’t panic! There is so much support out there, and new PKU-friendly foods and supplements are being developed daily. They will help keep your baby happy and healthy until they are old and grey.

What is PKU?

PKU is a rare metabolic disorder, whereby patients are unable to break down the amino acid Phenylalanine (Phe), found in Protein.

Amino acids are the building blocks of protein. 20 amino acids make up protein and our bodies can produce 10 of these amino acids, the rest (including Phenylalanine) are provided by food. Unlike fat and starch, the human body does not store excess amino acids for later use—the amino acids must be in the food every day.

Put simply, patients must adhere to a strict low protein diet to avoid build-up of phenylalanine in the brain, which causes brain damage.

If the diet is adhered to, your child will develop at the same rate as a non-PKU child and will have the exact same life expectancy.

How can you describe PKU to young siblings or family members?

“{insert child’s name} can’t eat certain foods like you can, or he/she will become poorly. Foods that you can eat such as meat, cheese, eggs, milk, fish, cream, nuts, seeds and other foods that have a lot of ‘protein’ in them, are not very good for {insert child’s name}. Many fruits and vegetables are really good for him/her and there are also specially made foods available on prescription e.g. bread and pasta.

{insert child’s name} will have to eat different food to you, and you need to help us look after him/her to make sure he/she doesn’t eat anything he/she shouldn’t eat when he/she gets a bit older.”

How did your baby get PKU?

Genes (say: jeenz) play an important role in determining how we look and lots of other stuff about us. They carry information that makes you who you are and what you look like: curly or straight hair, long or short legs, even how you might smile or laugh. These are passed on to you — or inherited — from your parents. Some faulty genes do not always cause symptoms on their own, but can also be passed on. In PKU your baby has received a copy of the faulty ‘PKU gene’ from each parent.

Will my child look different or develop differently to other children?

No. If your child follows the low protein diet to keep their phenylalanine level under control, they will develop the same as any other child without the condition. They will look no different to any other child. Their life expectancy will also be no different.

What would happen if my child didn’t adhere to a low protein diet?

In the short term, their concentration and mood can be affected. Some parents have reported irritability in their children or general ‘naughtiness’. In the long term, the Phe build up will lead to brain damage, resulting in developmental issues and hindered capacity to learn and function as they should.

Is there a cure, or will my baby grow out of PKU?

No there isn’t currently a cure and you do not grow out of PKU. As your child gets older, their Dietitian will advise if it is safe or not to increase their protein intake.

Will I be able to breast feed by baby?

Yes. Breast feeding can be used in combination with a special baby milk which does not contain phenylalanine. Your baby’s Dietitian will advise you which formulas to use. Breast feeding is encouraged as breast milk is relatively low in phenylalanine and it’s very nutritional for the baby, and is beneficial for the mother.

Will my child be able to have a child of their own one day? Will their child have PKU?

The chances of conceiving a baby are the same as for non-PKU patients, but females must follow strict diet before and during pregnancy as high Phe levels are harmful to an unborn baby. The Dietitian will explain this when the time is right. According to the NSPKU, the chance of your child with PKU also having a child with PKU is approximately 1 in 100.

How will my life change day-to-day, looking after a child with PKU?

• Regular visits to hospital: Appointments with your specialist metabolic Consultant and Dietitian are very important. They will check your child’s development and advise of any changes to their diet, you can ask them any burning questions. The Dietitian will advise you of any specialist food and supplements you can order from your family Doctor
• Regular blood testing: Your Dietitian will advise you how often you need to take heel / finger prick samples and send them in for testing. This will ensure your child’s phenylalanine levels are monitored outside of your clinic visits.
• Your kitchen cupboards! As your child gets older, you will store lots of different low protein foods (delivery is usually in bulk) and you will stock your fridge with protein substitute formulas. If you are lucky enough to have a pantry, this can be your new PKU stock haven!
• Eating out: Restaurants are becoming more and more flexible when it comes to choices for those with intolerances, and there are veggie and vegan restaurants popping up every day. Even Pizza Hut offers a 0% protein cheese option (if you ask for it) and you can take your own pizza base and ask them to cook it for you instead. That being said, eating out will be less spontaneous and planned in advance. Eating in is often the choice that provides the most variety.
• Educating everyone around you: Whether it is nursery or school staff, friends and family members, hotels and airlines, you will become a world-class PKU educator/ninja! Anyone that may be cooking or preparing food for your child, must know what your child can and cannot eat, and the consequences of getting it wrong.

How can I connect with other PKU parents?

This is the easy part! There is a strong online PKU community as well as on-the-ground PKU events and clinics where you can meet others in person.

Here are some social media pages to join:

PKU UK & Ireland
PKU World Wide Support Group!
PKU Awareness UK & Ireland
NSPKU
PKU Friendly
PKU Recipes and tips, chats and advice

Cambrooke also have their own social media pages:

Cambrooke UK
Low Protein in 15

Here are some events you may like to attend:

NSPKU Annual Conference: This is a fantastic event that takes place in a different location around the UK each year. The NSPKU is the National Society for Phenylketonuria, and exists to support patients and families with PKU. Over three days, you will have a jam-packed agenda and learn everything there is to know about PKU, meet other families and most importantly have a great time!

Company Events: Cambrooke and other low protein food/formula companies host events throughout the year across the UK. Follow social media channels to find out what is happening in your area.

Clinics: You will meet other parents at local hospital clinics. You will also have a chance to try a range of foods and formulas that your child can get on prescription.

We hope this helps to put your mind at ease during this very stressful time. If you still have some questions you are welcome to email us: ukinfo@cambrooke.com, and we will do our best to help answer them.