Laura’s Story

I was diagnosed with PKD in 1983.  At the time and for many years I thought it meant I had an additional problem with the Hemolytic Spherocytic Anemia I had been diagnosed with at birth.  My mother told me the story that about 4 hours after I was born she heard a doctor coming down the hall saying loudly, “there’s no way a mother with A+ blood would have a baby this anemic”.  She thought to herself, some poor woman had a sick baby and then the doctor walked into her room and told her and my father that I was extremely jaundiced and my blood counts were steadily dropping. 

I was immediately taken to another hospital for the start of my journey with anemia. I was transfusion dependent until I had a splenectomy at age 5. I developed gallstones and terrible migraine headaches at 10 years old.


I had a tonsillectomy and adenoidectomy in 1983 to eradicate my chronic infections and had my gallbladder removed in 1984. Both operations required transfusions before surgery. After these procedures my health improved drastically and for many years I rarely got sick. After the age of 18 and in charge of my own health, I only saw hematologists at the advice of my primary doctors. The expense wasn’t worth the hassle and frustration of them trying to diagnose me with some other rare anemia. 

For some reason, no one seemed to believe the PKD diagnosis and because most doctors were of little help, the thought of researching PKD for myself never entered my mind. I figured if physicians were unaware, certainly no one else was. 

In 2016 I started to develop worse fatigue and my hemoglobin and hematocrit levels started to decline and once again frustration set in. 

Then one day a friend of mine mentioned Rare Disease Day and I thought to myself “there’s a rare disease day?” I quickly went to the internet for some clarity and found support groups for PKD and joined one immediately. I also discovered there was to be a Patient-Focused Drug Development Meeting in September of 2019.  I registered!  That was the first time I’d ever seen and met anyone with PKD and I was just about to turn 50.  I decided then and there I would do whatever it took to never let that happen to another individual so I aligned myself with other passionate people and became a founder of the Pyruvate Kinase Deficiency Foundation.