Carla’s Story
I was just diagnosed with PKD in 2018 at age 57.
I became a registered nurse at age 19 and became an administrator at age 23. I loved nursing and kept very busy. I got married and had two children. I was involved heavily in their school and community activities but always fought fatigue and felt it was just part of my busy life.
When I was 56, living in Texas and doing case management, home health and hospice I started to have increased symptoms including bad joint pain and fatigue that no supplement would improve. My internist at the time agreed to refer me to hematology My hematologist misdiagnosed me with autoimmune hemolytic anemia and started me on steroids and biologic drug infusions. After these two treatments failed to increase my hemoglobin, I had my splenectomy. I also was never able to return to work as a nurse and had a year and a half of ongoing complications. I was discouraged and depressed. My fatigue had not improved, my anemia continued and I started to look for other clinical opinions.
As an advocate and case manager, now for myself, I ended up returning to California and seeking opinions there from clinicians I had worked with over the years and trusted. Finally, I heard the term pyruvate kinase deficiency for the first time. My hematologist in California had never seen a case before but was thankfully willing to learn. Testing and genetics followed. I finally had a diagnosis and a path to follow but I soon learned the path was not really that clear.
I started researching everything I could find on PKD. Compared to research on even rare cancers, there wasn't much out there. I had entered the world of rare disease and all the gaps in diagnosis, treatments and support that come with that.
I am not transfusion dependent thankfully but I started to interact with others that were, through the online Facebook support group People with Pyruvate Kinase Deficiency.
I found patients and caregivers of all ages struggling to get correct diagnoses, work ups and treatment for their symptoms. Newborns and children my grandchildren's ages who already had numerous transfusions and issues with iron overload. I could see that this disease affected people of all ages, races and locations. Some more severely than others based on their genetic mutations. And I wanted to use my clinical skills and years of experience to help in any way I could even though I was a "newbie" to PKD. I also realized that there were so many unmet needs in the PKD community.
During 2019-2020 I met Alejandra and Laura and with the help of NORD’s Rare Launch mentoring program, we launched the Pyruvate Kinase Deficiency Foundation in July. It really gave me a purpose after losing a career that lasted four decades and allows me to use my background in nursing, program management, nonprofit organization and grant writing.