How To Use Guidelines

How to Use the Guidelines to Advocate for Your Health

The international expert guidelines for the diagnosis and management of pyruvate kinase deficiency are meant to serve as a tool for healthcare professionals and people and families affected by PK deficiency. Hematologists will be expected to research and learn the latest, evidence-based information related to treating people with PK deficiency. However, people and families living with PK deficiency can advocate for the use of the guidelines in their healthcare circles and community.

How to advocate for your health with these guidelines:

  • Take the time to read, review, and learn the guidelines so you can become knowledgeable on evidence-based diagnosis and treatment options for PK deficiency.
  • Share these guidelines with your current doctor and hematologist and discuss how your treatment does or doesn’t match the recommendations. 
  • Not all topics of treatments your doctor or hematologist uses for managing PK deficiency are covered by the guidelines. This is because PK deficiency is an ultra-rare disease with limited research. The topics included in these guidelines currently have the most research and evidence to support recommendations.
  • If you are able, and your insurance will cover it, consider a medical appointment with a PK deficiency expert or PKD Center of Excellence to help set up a treatment plan that your local provider can follow.
  • Build your healthcare team to include a hematologist, pediatrician or primary doctor, and other important experts including endocrine doctors, heart doctors, lung doctors, gastroenterologists, geneticists, infusion centers, dentists, nurses, social workers, registered dietitians or nutritionists, or in the case of someone with PKD considering or becoming pregnant, a multidisciplinary fetal-maternal team. PK deficiency is a multi-faceted disease.
  • If you’re having a hard time finding a hematologist with experience in PK deficiency, look for one who has experience in thalassemia and/or sickle cell disease as these are also rare anemias and share many of the same treatments.
  • Keep track of your numbers! Make sure you or your loved one affected by PK deficiency is monitored the right number of times each year and has the appropriate tests to manage iron overload. Even non-transfused people with PK can have iron overload and its health effects.
  • Remember – there’s no magical hemoglobin number to trigger red blood cell transfusions, but instead, is based on symptoms.
  • Don’t forget about your mental health. Living with and taking care of people with rare diseases is difficult. Seek out psychosocial support through support groups and professional care.