Support Elena's Battle Against Rare Blood Diseases

Hello! My name is Elena. I'm a 24 year old wife and mother who has recently been diagnosed with two rare blood diseases.

Over the summer, it became undeniable that my health was in quick decline. I went from hiking miles of mountain trails to not being able to walk up a few steps without losing my breath and getting dizzy. I lost my appetite, strength, and color to my skin. Life got increasingly difficult.

I made an appointment with the only PCP nearby who had immediate openings. I explained all my concerns and was told it was probably anxiety or asthma so was prescribed an inhaler and told to talk to a tele-therapist. My wife spoke up and pushed for something to actually be done to check me because this was far beyond asmtha or anxiety. The doctor reluctantly ordered bloodwork and x-rays. I had to go to the local ER the next day, October 2nd, for the testing. We had only made it a few miles down the road before the hospital called and told us to turn around. I needed to be admitted immediately and start getting blood transfusions. My hemaglobin was a 3.5. They told me I had pancytopenia, meaning all of my blood counts were extremely low.

The next morning, I was transferred to UPHMC for a bone marrow biopsy. Over the course of the next 11 days as inpatient I underwent x-rays, MRI's, CAT scans and close to a hundred blood draws for testing. I continued to get blood transfusions daily to stay alive. Despite all the testing, there was no explanation for my sickness. I was discharged from inpatient because other than consistent blood transfusions, there was nothing the hospital could do until there was a diagnosis. On October 14th the call from UPHMC came with a few answers. One being the diagnosis of Paroxysmal Nocturnal Hemaglobinuria (PNH), a rare chronic blood disease caused by a genetic mutation. I was also given a list of medications, vaccines, and steps needing to be completed before any treatments could begin.

Mid November I was able to schedule an appointment at the National Institute of Health for a second opinion and to be looked at for clinical trials. That came with another 22 blood tubes to fill and another bone marrow biopsy. A month later we got the call and in addition to PNH, they gave the confident diagnosis of Aplastic Anemia. I was referred to a bone marrow transplant specialist to discuss things further. That is where we are now.

I have numerous tests to complete to ensure my body can endure a transplant. Meanwhile my doctors will be working to find a viable donor. The donor would spend up to a few days in the hospital, and I will have a minimum of a month long stay for recovery and then months of outpatient monitoring.

My wife, on top of homeschooling the children, will be my full-time caregiver until I'm back on my own feet.

Even after the transplant, I will always be battling PNH. Currently, my treatment is an $85,000 C-5 protein inhibitor infusion every 8 weeks, on top of weekly whole blood transfusions to maintain my blood levels.

We are looking for any and all support to help cover medical bills, transportation, time off of work, family lodging or childcare if needed, and any other unforseen expenses during this process.