Common Questions
I’ve felt so confused and scared since my baby was diagnosed with PKU. Is that normal?
For any parent, the arrival of a new baby can be joyful yet overwhelming. It can also be a confusing time, after receiving a diagnosis of PKU and learning about what it means. After a diagnosis is made, the first few days or weeks can be a little scary as they are a time of uncertainty. It is natural to have feelings of grief, disappointment, guilt, sadness and/or anger, as the diagnosis may have come as a complete surprise and the expectations you had before your baby was born, such as to exclusively breastfeed, may have now changed completely. Most parents begin to feel more optimistic when they see their babies developing and growing normally and understand how to control blood Phe levels within the treatment range. If you feel comfortable, the early weeks and months may be a time to begin sharing the experience with others and allowing trusted family members and friends to support you when possible.
Reference Sources:
PKU Handbook [2005]. Australasian Society for Inborn Errors of Metabolism (ASIEM) (Australia and New Zealand). Chapter 1: What is PKU.
My PKU Binder [2011]. National PKU Alliance (USA). Chapter 4: Diagnosis to 2 Years.
Can I breastfeed?
At diagnosis it may be necessary to stop breastfeeding or giving your baby their standard formula for up to a few days to help reduce Phe levels, while feeding their PKU formula. This can be stressful as it occurs at a time when breastfeeding is just being established. It is important to maintain your breastmilk supply so that you can continue as soon as possible. Your metabolic healthcare professional will give you advice about how to maintain your supply by expressing milk. As your baby will have less breast milk or standard formula the PKU formula will also provide the additional Phe free protein, nutrients and energy your child needs to grow.
See Breastfeeding Australia for more helpful information on breastfeeding.
What should I tell other people?
One of the challenges of having a child with PKU is that, because it is rare, few people have heard of it. Finding ways of explaining PKU to your family, your friends, your child and others will become easier over time with practice. Some people will feel ready to tell family and friends about the diagnosis soon after birth; others may prefer to wait to inform other people about the diagnosis until they feel more comfortable or sure about what they are doing. Waiting to share your child’s PKU diagnosis gives you the chance to talk with other individuals about this information in your own time. However, when you do choose to share, some of the key points that you may want to discuss about PKU include:
- PKU is a genetic condition. It cannot be caught or is not contagious.
- Apart from needing a special diet, your child is healthy and can do all the same things as other children
- Your child’s body cannot break down an amino acid called phenylalanine (Phe), found in all foods containing protein
- Phe can build up in the blood and affect the developing brain if levels are too high for too long
- Staying on a Phe-restricted diet helps keep blood Phe levels in an acceptable range, allowing for normal development and a healthy life
- Eating foods too high in natural protein will not make your child ‘feel’ sick, but over time may lead to permanent mental and physical health problems
- Eating protein-containing foods that are not part of the diet should not be considered a “treat” as it has implications for a child with PKU
- Your child will not grow out of PKU and the recommendation is that your child stay on the diet for the best outcome as possible
Reference Sources:
PKU Handbook [2005]. Australasian Society for Inborn Errors of Metabolism (ASIEM) (Australia and New Zealand). Chapter 2: What does a diagnosis of PKU mean for my baby and our family?
My PKU Binder [2011]. National PKU Alliance (USA). Chapter 4: Diagnosis to 2 years.
Where can I get more support?
Many parents find that they obtain support from other families who have children with PKU to feel reassured that their child will be fine. You may find it useful to talk with parents of older children with PKU about how they prepare the special foods and what it is like living with PKU. Seeing other children with PKU who are growing and developing well is reassuring. Speak to your metabolic health professional team as they may be able to assist you in contacting another family who has been in your position and understands your concerns.
You can also find support with the following associations:
- Metabolic Dietary Disorders Association of Australia (MDDA),
PO Box 33
Montrose, VIC. 3765
Phone: (03) 9723 0600 - The PKU Association of NSW Inc.
PO Box 4384
Castlecrag NSW 2068
info@pkunsw.org.au
President: Andrew McDonald
Phone: 0421 708 657
andrewianmcdonald@hotmail.com
Reference Source:
PKU Handbook [2005]. Australasian Society for Inborn Errors of Metabolism (ASIEM) (Australia and New Zealand). Chapter 2: What does a diagnosis of PKU mean for my baby and our family?
My PKU Binder [2011]. National PKU Alliance (USA). Chapter 4: Diagnosis to 2 Years.
Newborn Screening
All newborn babies are screened for PKU by taking a blood sample from a needle prick on your baby’s heel (“heel prick test”) in the first days of life. If your baby’s blood Phe level is high, PKU will be suspected but this will need to be rechecked and confirmed.
Laboratory Testing
Following the initial heel prick test, you will be contacted if the Phe level is high. Further testing will confirm the diagnosis and the metabolic clinic will advise you on the appropriate management. In Australia metabolic clinics are in Sydney, Melbourne, Brisbane, Adelaide and Perth.
Metabolic Clinic
The team at the metabolic clinic is there to help answer any PKU-related questions you may have, such as the causes of PKU and how it can be treated. They will advise you how to start dietary management to keep your baby’s blood Phe levels within recommended ranges. This will likely include the recommendation of a PKU metabolic infant formula to be used in combination with breastfeeding or regular infant formula and guidance on how and where it can be obtained and how much to give. They will also advise you on how to monitor your baby’s Phe levels.
With newborn screening, early diagnosis, effective dietary management and regular blood Phe monitoring, Phe levels can be kept in an acceptable range.
Reference sources:
PKU Handbook [2005]. Australasian Society for Inborn Errors of Metabolism (ASIEM) (Australia and New Zealand). Chapter 1: What is PKU.
Eat Right Stay Bright [2010], Guide for Hyperphenylanemia (USA). L. Bernstein and C. Freehauf. Chapter 1.
My PKU Binder [2011]. National PKU Alliance (USA). Chapter 4: Diagnosis to 2 Years.
What other parents have said
I still remember that call from the doctor’s office saying our son’s newborn screen was positive for PKU. While my husband and I grieved about the diagnosis for several months, we also slowly came to realise that PKU can be managed effectively and is just one part of who our son is.
Our son is a beautiful and extremely bright baby. He is far ahead of his brother at this age, and is growing normally. When I first heard the diagnosis of PKU, I was so worried Connor wouldn’t be ‘okay.’ I cried for weeks. Now I know that Connor is more than okay; he is thriving.
Don’t panic when you read all the frightening information you find on the Internet. I spent my son’s first year and a half in tears and terrified that he would be mentally impaired. He’s brilliant.
I realised later that calling everyone and telling them about PKU and consoling them on the phone made my own acceptance faster. The more people I told and said, “Look, it’s all right, it’s not that bad, the more I was reassuring myself it was OK.
Reference Source:
My PKU Binder [2011]. National PKU Alliance (USA). Chapter 4: Diagnosis to 2 Years.
Please Note: The dietary management for PKU varies for each person so all information presented here is for guidance only. Your own dietitian and/or doctor will advise you on all aspects relating to management of PKU for you and your family.”
