credit: https://www.rarediseaseday.org/article/what-is-rare-disease-day WHAT? Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the...
Come learn about PALYNZIQTM (pegvaliase-pqpz) Injection, a new way to take control of your PKU. Meet with other adults in the PKU community and hear...
You don't wat to miss this great event! Saturday January 19, 2019 at Odysea Aquarium. Sponsored by ANPAD and Horizon. Join us for Lunch, Keynote...
Arizona Network for PKU and Allied Disorders (ANPAD) was founded in 2011 by PKU parents and medical professionals to fill the void of support groups offered to patients and families effected by PKU and allied disorders. Our mission is to help individuals and their families adhere to proper medical treatment, supply information on the latest research and treatment options, raise public awareness of PKU and Allied Disorders and create a support network for patients and their families to learn, connect and encourage each other.
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ANPAD's annual family camp for individuals with metabolic disorders (that are Arizona residents) requiring a low protein diet and their family members.
Camp Knot a PhePhenylketonuria (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.
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.
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.
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.
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).
