Life with PK Deficiency | Know PK Deficiency
See data on the long-term impact of PK deficiency

life with PK deficiency

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Watch stories from people with PK deficiency

Meet Molly

A challenge of having a rare condition can be finding others who understand and relate. Molly talks about the importance of self-advocacy and raising awareness to help the PK deficiency community grow.

A Day in the Life

Some symptoms of PK deficiency can take more than just a physical toll. Tamara talks about a day in her life and how she manages her family while navigating her condition.

Meet Kelsi

Elevated bilirubin levels may cause people with PK deficiency to experience yellow skin and eyes. Watch Kelsi talk more about her symptoms, others’ reactions, and the emotional impact both have had on her life.

Meet Maaike

Coping with the ongoing physical and emotional impacts of PK deficiency can be hard for those living with the condition as well as their families, so consistent support is important. Hear Maaike’s strategy on maintaining a positive outlook.

Meet Nathan

A rare disease like PK deficiency can be hard to talk about with people who are not familiar with the toll it can take on daily life. Nathan shares the one thing he wants people to understand about his experience living with PK deficiency.

Partnership and Support for Managing PK Deficiency

Hematologist Dr Despotovic talks with Jonathan, a person living with PK deficiency, and Alejandra, his mother, about their perspectives and experiences with PK deficiency.

Share your PK deficiency story

Agios is looking for people with PK deficiency and caregivers to share their experiences. If interested in sharing your story, please email us at:

To join the PK deficiency community, like us on Facebook and subscribe to our YouTube channel.

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