Know PK Deficiency

It’s #RareDiseaseDay! Today, and every day, we champion the rare disease community. This includes bringing together pyruvate kinase (PK) deficiency patients and caregivers through live and virtual events—just like our recent event in Minneapolis. #KnowPKdeficiency #PKdeficiency

Molly describes how she explains #pyruvatekinasedeficiency to other people in simple terms. Helping patients understand and be able to explain this rare disease can empower them to educate family, friends, and colleagues. #PKdeficiency #KnowPKDeficiency

We will honor #RareDiseaseDay on February 29. This is a great day to learn more about pyruvate kinase (PK) deficiency and the impact it can have on people living with the #raredisease. Hear stories from people affected by #PKdeficiency on our YouTube channel. #KnowPKdeficiency

Because #PKdeficiency is a #raredisease, a lack of knowledge about its impact can be frustrating and isolating for patients and families. Tamara explains the need for greater awareness and recognition of patients’ needs. #KnowPKdeficiency

She notes the difference it made to find a health care team that could help Jonathan manage #PKdeficiency. “He enjoys more life now… Even when he has more time in the hospital now, he still has more energy, more enthusiasm. He can function much better.” #KnowPKdeficiency

His mother, Alejandra, notes the importance of finding the right health care team. “It's not just the hematologist and the pediatrician or the hematologist and the regular doctor, it is to have a team [to look at] the person as a whole, not just the numbers in the blood.”

“Over the course of the years, we've been having ups and downs.” During childhood, Jonathan endured periods of increased #PKdeficiency symptoms and medical issues. After many tests and much uncertainty, his parents found a doctor who had experience with the #raredisease.

Living with a #raredisease, Tamara often finds she needs to explain #PKdeficiency, its symptoms, and its impact to other people, including health care professionals who are not familiar with the condition. #KnowPKdeficiency

For some people with pyruvate kinase (PK) deficiency, the need for transfusions may change over time or at certain stages, as Maaike has experienced. Click link for full video: knowpkdeficiency.com #PKdeficiency #KnowPKdeficiency

Hopes and dreams: As a lifelong disease, #PKdeficiency can have a long-term impact in many ways. For Tamara, one of those was giving up hard-earned career opportunities. #KnowPKdeficiency

Are you or someone you know looking for a health care provider with experience treating #PKdeficiency? Explore our updated Agios Find a PK Deficiency Specialist list to find a hematologist with PK deficiency experience near you. #KnowPKdeficiency #raredisease

From her own experience, while feeling alone for so many years, Jill is aware of how helpful it is to hear from other people with #PKdeficiency, and what a difference it might have made had she known others’ stories earlier in her life. #KnowPKdeficiency

After Remy was diagnosed with #PKdeficiency as an infant, her parents weren’t given much information. So, one of the first steps for her mom, Becky, was to find a support group to learn more and connect with other people living with this rare disease. #KnowPKdeficiency

Sarinya shares her story to give encouragement to others who are caregivers in similar circumstances: “For whoever reads our story, so they can prepare whatever they have and fight. And we’ll get through it.” #PKdeficiency #KnowPKdeficiency

The intense exhaustion that can come with #PKdeficiency is something that many patients face regularly. Here, Molly talks about the difficulties of carrying out simple daily activities, particularly in the mornings and evenings. #KnowPKdeficiency

Tamara juggles family life and relationships with the demands that #PKdeficiency places on her body. She speaks candidly about the worry and guilt that she feels, on top of her physical challenges. Patients’ emotional well-being is an important consideration. #KnowPKdeficiency

Undergoing various medical interventions at a young age can be a challenge for children with #PKdeficiency and their families. By the time she was 5, Remy had 83 blood transfusions, 9 MRIs, and many other procedures. Finding ways to maintain a balance is important to her parents.

Raising a family has extra challenges when managing the daily and long-term effects of #PKdeficiency. Maaike shares her experiences. Click here to view the full video on our website: knowpkdeficiency.com #KnowPKdeficiency

When she was younger, Daniela decided she wouldn’t have children because of the impact of #PKdeficiency on her health and ability to manage daily living. She shares her thoughts and feelings about this difficult personal decision. #KnowPKdeficiency

Jonathan has had many medical procedures since a young age, including blood transfusions every 3 weeks. It’s important to recognize the burden of #PKdeficiency on children and families. #KnowPKdeficiency