I learned I had a form of APOL1-mediated kidney disease after the 2000 Olympics. I felt lethargic and had a routine physical exam. It revealed abnormalities in my kidneys, leading to a diagnosis of focal segmental glomerulosclerosis (FSGS), which is one form of APOL1-mediated kidney disease (AMKD).
Since my diagnosis, I have worked with my team of doctors to manage my overall health and wellness. But I have also spread the word about kidney education in our community, particularly AMKD. We celebrated the first annual APOL1-mediated Disease Day on April 30th, but it won’t be our last. Here is why I think recognizing the day and the condition was significant:
What is APOL1-mediated kidney disease?
APOL1-mediated kidney disease, or AMKD, is a genetic kidney disease caused by certain variants in the APOL1 gene. AMKD progresses silently, and many people don’t have symptoms until the disease reaches an advanced stage. This can cause severe kidney damage and even kidney failure, which requires dialysis or a kidney transplant.
What role does genetics play in this disease?
The APOL1 gene plays a role in our body’s immune system to fight threats. Everyone has two copies of the APOL1 gene passed down to them from their parents. Some people are more at risk for developing AMKD based on the copies of the gene they receive. Certain APOL1 variants are associated with developing AMKD; if an individual inherits a “risk variant” from both parents, they may develop AMKD. Genetic studies show that these APOL1 risk variants are found worldwide in people with African ancestry.
The link between APOL1 and kidney disease was only discovered in 2010, and many people haven’t heard of APOL1 or AMKD – which is why it’s especially meaningful to raise awareness for this disease and its underlying cause.
What should we know about kidney disease in our families?
Since AMKD is a genetic disease, I encourage you to be proactive in starting conversations to see if others in your family have been diagnosed with kidney disease and/or AMKD. It can be difficult to open the dialogue at first, but the information you gain is extremely valuable in determining whether you should talk to your doctor about AMKD. If you’re unsure where to start, check out the AMKD Conversation Guide on PowerForwardTogether.com or visit the American Kidney Fund’s website for additional resources.
Why are Black populations at an increased risk for AMKD?
Over the past 3,000 to 10,000 years, the APOL1 gene evolved in people who lived in Western and Central Africa to protect them from resistant forms of the parasite that causes human African trypanosomiasis. While these genetic variants help protect against human African trypanosomiasis, they may also cause kidney disease, known as AMKD.
As people from these regions have migrated around the world, they have taken these genetic variants in the APOL1 gene with them. Today, people of African ancestry may carry these APOL1 variants, including (but not limited to) people who identify as Black, African American, Afro-Caribbean, and Latino/Latina.
Approximately 13% of African Americans have two APOL1 risk variants, which significantly increases their risk of developing kidney disease.
In what ways does AMKD affect our lives?
AMKD can progress silently, and you may not notice any symptoms until the disease has progressed significantly. It can lead to severe kidney damage, life-long dialysis, a kidney transplant, or even death.
I was at the height of my basketball career when I started noticing extreme lethargy and swelling in my legs and feet, but I assumed these symptoms were just a result of my rigorous training and travel schedule. It wasn’t until I had my regular check-up that my doctors found abnormalities, which eventually led to my kidney disease diagnosis. I worked closely with my doctor and care team to stay as healthy as possible and was fortunate to receive a kidney transplant eventually.
The best way to manage AMKD is to detect it early, so I encourage you to be proactive about your health and see a doctor regularly.
If you have chronic kidney disease, can you be tested for AMKD? What does the process involve?
If you are of African ancestry, have a family history of kidney disease, or have symptoms of AMKD, talk to your doctor to see if getting tested may be the right next step for you. An early diagnosis is important to getting back in the game, and, for AMKD, to confirm an AMKD diagnosis, that is genetic testing. You can learn more about APOL1 genetic testing on PowerForwardTogether.com or KidneyFund.org and talk to your doctor about whether genetic testing is right for you.
What does it mean to you personally to help raise awareness for AMKD?
Raising awareness about AMKD is important to me because I know that there are people out there who are living with kidney disease and may not even know it yet. I brushed off my own symptoms as the effects of my rigorous basketball training schedule. It was only when my routine lab results showed abnormalities that I realized it was a more serious matter and one that would eventually change my life.
I want to encourage others to be more proactive than I was at first. Talk to your doctor if you have any concerns about your kidney health. Ask questions and find out if your family has a history of kidney disease.
Taking the initiative to learn about AMKD has also been an empowering journey. I lived a very active lifestyle, so my diagnosis came as a shock. However, after contributing my genetic information to a 2010 study that identified the genetic cause of AMKD, I understood that I wasn’t at fault for developing AMKD; it all came down to my genes. I want to share that feeling of empowerment with as many people as possible.
Why was it necessary to set aside a day specifically for AMKD Awareness? How is it different from National Kidney Month?
It’s important for each of us to take charge of our kidney health because many people suffer from chronic kidney disease, but AMKD continues to go misdiagnosed or undiagnosed because people have no idea it exists. AMKD Awareness Day is an initiative to spread information about this form of kidney disease and encourage people to talk more proactively with their families, friends, and doctors about kidney health and AMKD.
What was the theme/messaging of the first-ever AMKD Awareness Day?
The American Kidney Fund encouraged everyone to “Be APOL1 Aware” for this inaugural AMKD Awareness Day. Again, a lot of people don’t know about AMKD or how family history and genetics can impact their chances of developing it. I want more people to know how game-changing it is to be proactive. AMKD is a rapidly progressive disease that can lead to severe kidney damage or kidney failure. If we remain unaware, we remain uninformed. Spreading awareness gives people the resources to be proactive and seek out information about their family history and their chances of developing AMKD.
Why was the American Kidney Fund an important part of this initiative?
The American Kidney Fund has led the charge in establishing AMKD Awareness Day, and I am grateful for their leadership in spreading information about AMKD and providing resources to help people power forward and take charge of their health. I hope their resources and information will help empower people, especially those of African ancestry, to start conversations with their families and doctors about kidney health.
Alonzo Mourning is a paid spokesperson for Vertex Pharmaceuticals.
