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How Confident Can You Be with Your PKU Treatment Plan?

PROGRAM DETAILS:

Even when you or your loved one is following your PKU diet properly and getting regular checkups, don’t you still wonder am I doing enough? Is my PKU treatment plan on target right now? Could I feel better by making a small change? In this Patient Power program, you’ll learn about all of this and more from a leading dietitian, a genetic expert in metabolic conditions, and Karen, the mom of a 7-year-old PKU patient. Laurie Sprietsma is a Metabolic Dietitian in the Department of Pediatrics, Division of Genetics and Genomic Medicine at Washington University School of Medicine in St. Louis, Missouri, and Dr. Darius Adams is a Clinical and Biochemical Geneticist at Albany Medical Center in New York.

The program begins with Karen, mother of 7-year-old Patrick. She discusses Patrick’s diagnosis shortly after he was born. She speaks to the emotional challenges she faced and how she has worked with her dietitian, Laurie Sprietsma, and other members of the metabolic team to learn how to manage his diet. Ms. Sprietsma steps in to share how she instills confidence in new parents, providing them with resources and tools to learn more about PKU, and to take away the fear and overwhelming feelings that are often experienced when a child is first diagnosed. They both talk about Patrick, the PKU treatment plan and the importance of connecting with other parents and children for support.

Dr. Adams goes on to explain the critical components to developing a treatment plan. He addresses the social aspects of PKU, the importance of regular testing and new treatment options that are available. Dr. Adams also talks about the various behaviors associated with “out-of-control” phe levels, and stresses the need for those who have gone off of diet to work hard at getting back on. Both Dr. Adams and Ms. Sprietsma stress the need for tighter phe control and the difference it can make it one’s life both cognitively and socially.

Click to here to view and print the Take Action Guide from this program.

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EXPERTS & GUESTS:
Darius J. Adams, M.D. Darius J. Adams, M.D.
Clinical and Biochemical Geneticist, Albany Medical Center
Dr. Darius Adams completed his internship and residency in Genetics at the Mount Sinai Medical Center in New York City, where he received comprehensive training in genetics and dysmorphology. He remained at Mount Sinai for an additional year to complete a fellowship in Metabolic/Biochemical Genetics. Dr. Adams was certified as a Clinical Geneticist by the American Board of Medical Genetics... more >

Laurie Sprietsma, R.D., L.D.
Metabolic Dietitian, Washington University School of Medicine
Laurie D. Sprietsma, RD, LD, is a Metabolic Dietitian in the Department of Pediatrics, Division of Genetics and Genomic Medicine at Washington University School of Medicine in St. Louis, MO. Ms. Sprietsma supervises management of patients with various in-born errors of metabolism, such as phenylketonuria, maple syrup urine disease, and urea cycle disorders. She has been working at Washington University... more >

Karen Dent,
Mother of Patrick
Patrick was born on October 25, 2001 - nearly 9 pounds and healthy in every way! At 8 days old, we received word that his PKU test was positive with elevated phe levels. He was immediately placed on Phenex 1 and we began the learning experience of a lifetime. Patrick is now 7 years old, strong, healthy, smart, funny, and... more >

TRANSCRIPT:

  1. Introduction LISTEN
  2. Karen and Patrick's Story LISTEN
  3. Developing a Treatment Plan LISTEN
  4. Using Kuvan in Conjunction with Diet LISTEN
  5. Signs and Symptoms of PKU LISTEN
  6. Benefits of Returning to PKU Treatment in Adulthood LISTEN
  7. Questions from Listeners LISTEN
  8. The Roles of the Parents and the Healthcare Team LISTEN
  9. Closing Comments LISTEN

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