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Fast Facts: Pyruvate Kinase Deficiency for Patients and Supporters

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Fast Facts: Pyruvate Kinase Deficiency for Patients and Supporters

By Rachael Grace

Published 2018

40 pages, 15 illustrations

ISBN 978-1-910797-91-4


 

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Pyruvate kinase deficiency is a rare genetic disease that causes red blood cells to break apart. Despite an ever-growing understanding of the disease, it remains unfamiliar to many healthcare professionals, and the information available to patients is limited.


This superbly illustrated workbook is designed to help patients equip themselves with the best information about their condition to improve the conversations they have about it with their doctors and nurses. It provides simple but detailed explanations of:
• the role of red blood cells and what goes wrong in pyruvate kinase deficiency
• how the condition is inherited
• how the condition affects patients
• blood tests, and what the results mean
• supportive treatments, including blood transfusions and surgical removal of the spleen
• how complications such as iron overload and jaundice are managed.


With FastTests to test patients’ understanding of their condition, and plenty of space to write notes, this concise, easy-to-read resource will help patients get organized so that they are better equipped to ask the right questions and have more meaningful discussions about their treatment. Ultimately, it will help them make the best decisions about their care.
                                                                                                                           
Contents
• First, the facts …
• What is pyruvate kinase deficiency?
• What causes PK deficiency?
• How is PK deficiency diagnosed?
• How will PK deficiency affect me or my child?
• Treating PK deficiency
• What sort of monitoring might I need?
• Special situations
• When should I see my doctor?
• Useful resources


What the reviewers say:
“As a person living with pyruvate kinase deficiency, this booklet is a comprehensive godsend and will raise much needed awareness of the impacts and implications of living with this disorder. I will be taking it with me wherever I go in the hope of educating doctors with the most up-to-date information.”
Patient with PK Deficiency, Australia


“PK deficiency is a complex disease, and the information presented here may appear a bit overwhelming at first. Stick with it, and use it to ask lots of questions. It will become a valuable aide over time. I shared this resource pre-publication with parents whose baby had just been diagnosed with PKD. They found it very useful. My nurses love it too!”
Bertil Glader, Professor of Pediatrics (Hematology/Oncology) and Director, Red Blood Cell Special Studies Laboratory, Stanford University School of Medicine, California, USA


“This engaging book is packed with useful information and helpful illustrations that address the important questions patients with PK deficiency often have. Highly recommended.”
Wilma Barcellini, Associate Professor in Blood Diseases, Oncology and Rheumatology, University of Milan, Italy

 

The author

Rachael Grace

MD MMSc Assistant Professor, Harvard Medical School, Dana-Farber/Boston Children’s Cancer and
Blood Disorders Center, Boston, Massachusetts, USA


 

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