Getting in the Driver’s Seat: My Journey with FSGS and the APOL1 Gene

In a single moment, your entire world can shift. For me, that moment arrived when I was 31 years old. I was a new mother. I thought I was in the prime of my life. Then, intense swelling in my legs sent me to the hospital.

I had a lupus diagnosis in the past. I thought my symptoms were related to that. But time seemed to stop in the emergency room. The nurse pulled back the curtain with a confused look. She told me my kidneys were failing.

Learning I had focal segmental glomerulosclerosis

A kidney biopsy soon revealed my official diagnosis. I had focal segmental glomerulosclerosis (FSGS). FSGS is a rare condition. It causes scarring in the tiny filtering units of the kidneys.

I had never heard of FSGS before. I was facing a life-altering illness. I felt full of uncertainty and blame. I kept asking myself what I did to cause this.

Facing denial and choosing action

Fear and denial took over at first. I struggled to process what was happening. I even skipped doctor visits to avoid my reality.

My turning point came during a hard conversation with my doctor. They warned me about how severe my condition was. I thought about my husband, daughter, and family. I realized this was a matter of life or death. I knew I had to take control of my health. I needed to be here for my family.

Dialysis and the gift of life

My family rallied around me. I began speaking up for my care. I learned about my health and worked closely with my care team.

We tried our best to slow the disease. Still, my kidney function kept declining. My kidneys failed, and I started dialysis.

Dialysis was heavy physically and emotionally. But I still had hope. My sister offered to be a living donor right away. Thanks to her gift of life, I had a successful kidney transplant.

Uncovering the APOL1 genetic connection

The reason for my FSGS remained a mystery for over 10 years. Years after my transplant, I learned about genetic risk variants. I learned how the APOL1 gene links to kidney health.

I wanted clear answers. I got genetic testing and learned I carry 2 APOL1 genetic risk variants. This proved my FSGS was actually APOL1-mediated kidney disease (AMKD).

Getting this genetic answer changed everything. For years, I wondered if I caused my own kidney failure. Finding my APOL1 status brought clarity. It was genetic all along! I did not cause it, and I could not have stopped it on my own.

From personal clarity to community advocacy

Learning about the APOL1 gene changed my focus. I moved from looking for answers to taking action.

AMKD affects more people of African descent. Yet many people in our communities do not get a diagnosis. Knowing genetics played a role gave me a new goal. I want to make sure others do not face this without answers. I want everyone with kidney disease to feel supported. I want them to ask their doctors about genetic testing.

Empowering people to take the wheel

My path with FSGS and AMKD taught me a lot. We cannot always control a diagnosis. But we can control how we respond.

We can share our stories. We can ask for early genetic testing. We can rely on our communities. Together, we can help other people take control and navigate their health journeys.