I first heard the term Pyruvate Kinase Deficiency (PKD) while sitting in a pediatric hospital room with my husband, Bryan, and five-week-old daughter, Scarlet, while she was simultaneously receiving her first blood transfusion.

After being whisked away to the NICU a few hours after birth (thanks to the angel of a nurse that noticed her severe jaundice), spending ten days in the NICU with countless tests followed by weeks of blood draws, we finally had an answer.

I have two children, Cash (8), and daughter, Scarlet (6). Scarlet was diagnosed with Pyruvate Kinase Deficiency (PKD) at five weeks old and when her hematologist informed us that neither he nor any of his colleagues had treated a patient with this disease, we still did not quite comprehend the rarity of the disease prevalence.

Kylee’s Story

I consider myself extremely organized and my decisions and actions are research-based and typically well-calculated. This diagnosis made it quite difficult to adapt – because this disease is so rare and all patients present with unique symptoms and issues, knowledge is limited.

Thankfully, I was able to connect with a group on social media comprised of PKD patients and caregivers from across the globe, which is how I met the founders of the PKD Foundation.

My daughter is healthy, active and quite ornery, and we are so fortunate that her condition is not severe, and she is not transfusion dependent. However, we know that this could change at any time throughout her life and complications may develop in the future.

Without advocates seeking knowledge through science and research, progression cannot be made toward advancing treatment and support for any rare disease.

I also understand the profound importance of connecting and educating those within the PKD community so they feel confident in their understanding of the disease and are equipped to advocate for themselves or others.

I am beyond honored to be a part of the Pyruvate Kinase Deficiency Foundation and to be an advocate for my daughter and other patients and caregivers alike.

In my professional career, I serve as the Executive Director of Marketing and Communications at Millikin University in Decatur, Illinois and have experience serving on several nonprofit boards and organizations.

I look forward to contributing toward the mission and goals of the PKD Foundation.