PKU is generally diagnosed through newborn screening. Once your child is diagnosed with PKU, you'll likely be referred to a medical center or specialty clinic with experience in managing PKU. In addition to a doctor who specializes in treating PKU, you'll also need the assistance of a dietitian with expertise in the PKU diet. Most medical centers with a medical genetics department will also have a dietitian trained in PKU management.
Because appointments can be brief, and there's often a lot of ground to cover, it's a good idea to arrive well prepared. Here's some information to help you get ready for your appointment.
What you can do
- Ask a family member or friend to come with you. Sometimes it can be difficult to remember all of the information provided during an appointment. Someone who accompanies you may remember something that you missed or forgot.
- Write down questions to ask your doctor or dietitian.
Your appointment time may be limited, so preparing a list of questions can help you make the most of your time with your child's doctor. List your questions from most important to least important in case time runs out. For PKU, some basic questions to ask include:
- How did my child get PKU?
- How can we manage PKU?
- Are there any medications to treat this disease?
- What foods are completely off-limits?
- How much formula will my child need?
- What happens if my child eats a food that he or she is not supposed to eat?
- Is this condition temporary or long-lasting?
- If I have another child, will he or she have PKU?
- Are there brochures or other printed material that I can take with me? What websites do you recommend?
- Will my child have to stay on this special diet for life?
- Did something I did or didn't do during pregnancy cause this to happen?
What to expect from your doctor
Your doctor is likely to ask you a number of questions. Being ready to answer them may reserve time to go over points you want to spend more time on. Your doctor may ask:
Nov. 17, 2011
- Has your child had any symptoms that concern you?
- Do you have any questions about your child's diet?
- Are you having any difficulty following the diet?
- Has the growth and development of your child been normal?
- Phenylketonuria. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=phenylketonuria. Accessed Oct. 6, 2011.
- Blau N, et al. Phenylketonuria. The Lancet. 2010;376:1417.
- Bodamer OA. Overview of phenylketonuria. http://www.uptodate.com/home/index.html. Accessed Oct. 6, 2011.
- PKU (Phenylketonuria). March of Dimes. http://www.marchofdimes.com/baby/birthdefects_pku.html. Accessed Oct. 6, 2011.
- Ten Hoedt AE, et al. Parenting a child with phenylketonuria or galactosemia: Implications for health-related quality of life. Journal of Inherited Metabolic Diseases. 2011;34:391.
- Van Spronsen FJ, et al. Large neutral amino acids in the treatment of PKU: From theory to practice. Journal of Inherited Metabolic Diseases. 2010;33:671.
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