If you or a family member have been diagnosed with Pyruvate Kinase Deficiency, you probably have many questions running through your head. What kind of disease is it? Will I or my family member be able to live a normal life? What precautions should I take?

The mission of this website is to answer your questions. It is created and managed by Charlotte, Jennifer, Laure, Maaike and Robert. We all have Pyruvate Kinase Deficiency and feel the need to have access to comprehensible information about this rare disorder. Although the website is still under construction, we hope you will find some valuable information.

To have an idea of what it means to have a child with Pyruvate Kinase Deficiency, two parents made a video about the first weeks of the life of their beautiful daughter, Minnie. We are thankful for the opportunity to share this with you.

These are some suggestions to explore our website:

  • Learn more about pyruvate kinase deficiency
  • Read the personal testimonials to learn how other people are living with this disease.
  • Perhaps you will be interested in joining one of the support groups?
  • Keep up to date on the latest and most important news about pyruvate kinase deficiency.
  • Who are the persons behind this website? Read more about us.
  • Do you have a suggestion, a question or do you want to share your story? Feel free to contact us.


7 thoughts on “Welcome

  1. My grandson has just been diagnosed…trying to find out as much as I can from other people who have family members diagnosed


  2. I have had pkd since I was born. I wasn’t supposed to make it to adulthood let alone my 5th birthday. I have a severe case of it. I just want to let everyone know that their is hope! I am now 24, engaged, have an almost 3 year old and I am pregnant with my second child. Only time I need transfusions now is during pregnancy or if I get very sick but that hasn’t happened in a long time. My last transfusion was when I was about 30-35 weeks pregnant with my first child. I am about to have one Monday since I am pregnant with my second.


  3. Bonjour ma fille zoé est âgée de 19 mois diagnostiqué PK . Elle reçoit une transfusion toute les 5-8 semaines pour l’instant pas de surcharge en fer. Nous vivons en France.
    MERCI pour vos témoignage….


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