Sucess Camp Knot a Phe 2023!
Camp Knot and Phe
What is PKU and allied disorders?
Phenylketonuria (PKU) is a rare, inherited metabolic disorder that inhibits a child from utilizing the essential amino acid, phenylalanine (Phe). PKU is caused by a deficiency of phenylalanine hydroxylase (PAH), normally produced by your liver. It is a recessive genetic defect that causes excess build up of (Phe) in the body, resulting in damage to the brain and central nervous system if untreated. Amino acid disorders (AAs) are a group of rare inherited conditions. They are caused by enzymes that do not work properly. Allied disorders are related genetic defects such as Citrullinemia, Maple Syrup Urine Disease (MSUD) and Organic Acidemias (OAs) that result in toxic effects on the brain and body.
My child has been diagnosed what now?
Having a child effected by a genetic disorder can be confusing and frustrating, but we are here to help. First, talk to your doctor about diet plans, blood testing and medical options. We also provide many resources including medical research, diet planning and sources for specialized food and formulas.
Facebook groups are wonderful, search your child's condition. Make sure to check with your clinic before making any recommended chages to your child's diet.
I am and adult with PKU what are my options?
You are not alone. Maintaining a strict diet and accessing proper medical care can be difficult. We offer a support group for families + adults and educational events such as cooking classes or diet planning guides.
Check out NPKUA.org for mentoring programs.
How can I help?
Consider donating today. We are an accredited 501(c)(3) non-profit that continues to serve its mission improving the lives of those effected by PKU and allied disorders. https://goo.gl/yhYFYc You can also support ANPAD as a volunteer at any of our events, including charity dinners and Camp-knot-a-phe.
Why is newborn screening so important?
Most of the screened disorders are inherited but most babies with disorders have no prior family history of the disorder. There is no way to tell whether a baby will have a disorder without testing so all babies are at risk. Even though the risk of a disorder is small, it would be tragic to have a baby who was not screened who later suffered permanent damage because diagnosis was not possible until symptoms appeared. Babies are tested for 29 core disorders including hearing loss on the Recommended Uniform Screening Panel from the U.S. Department of Health and Human Services (HHS).