World Kidney Day: Kidney Health is Personal for My Gene Counsel
The second Thursday of every March is World Kidney Day! My Gene Counsel has many reasons to be excited, including that our CEO’s husband is the grateful recipient of a kidney, and our Genetic Counseling Business Manager’s fiancé, Brantley, donated a kidney to his brother-in-law Greg. Below, our Genetic Counseling Business Manager, Meagan Farmer, asks Brantley and Greg about their journey, which demonstrates both the importance of our kidneys and organ donation.
Genetic Counseling Note: Autosomal dominant (AD) polycystic kidney disease (PKD) is a genetic condition caused by a mutation in one of four different genes: PKD1 (~78% of cases), PKD2 (~15% of cases), and much more rarely, GANAB or DNAJB11. People with this condition develop many cysts on both kidneys, which can lead to kidney failure. More than 50% of people with ADPKD will develop end stage renal disease by age 60, requiring treatment with dialysis or transplant. Other possible ADPKD symptoms include cysts in other organs (most frequently the liver and pancreas) as well as increased risk of aneurysms, but the condition is variable. Even members of the same family who have ADPKD may have different features/disease severity. People with ADPKD have a 50% chance to pass the condition to each child. Because high blood pressure can develop in childhood, at-risk children should have their blood pressure monitored beginning at age 5. A diagnosis of ADPKD can be made with imaging (usually ultrasound, sometimes CT or MRI) or via genetic testing. This is usually considered in adulthood.
Meagan: Greg, when were you first diagnosed with PKD?
I was 25 years old when first diagnosed. I had a pre-employment physical that revealed my blood pressure was really high for someone my age- 170/95, something like that- so I was required to get under a doctor’s care before I could start the job. When I went to the doctor, he asked about my family history. I revealed that my mother had polycystic kidney disease (PKD). Base on this, the doc thought it would be good to screen me for PKD. An ultrasound scan revealed I had multiple cysts on my kidneys.
Greg, when did you learn that you would need a kidney, and what was the search/testing process like?
I was 36 when my kidneys had failed to the point where I was evaluated for a transplant. This was in December 2006. I was admitted to UAB for a full day and night of screening tests. This included MRI, ultrasound, blood work and other labs, as well as psychiatric eval, social services, counseling, education sessions, etc. The eval team recommended that I/we open up our search for willing living donors.
Brantley, what compelled you to be tested to see if you were a match?
My sister Lorrie pulled me aside one day and asked if I’d consider getting tested. I was 26 at the time and had known Greg since I was 8 or 9. I saw him more like a brother than my sister’s husband. Saying yes was a no-brainer.
Greg, what was it like for you when you learned that Brantley was a match?
I actually learned that both Brantley and Lorrie were a match. I had tremendous pause knowing I needed to accept a kidney from either one of them. My doctor, Edwin Rutsky, suggested not to go with Lorrie so that our son did not experience both parents being out of commission at the same time. After several days of prayer and
Brantley, how about you? What was it like for you when you learned that you were a match?
I was excited. To me, it was a small price to pay for the well-being of not only Greg, but my sister and nephew.
Greg, how did things change for you post-transplant?
Post-transplant I was back to full energy levels, I was able to spend time with my son in all of his activities and be fully engaged with him. I was able to go to graduate school and had full energy to work and handle the course load along with full family involvement. I have been able to continue my life and see my son grow up. Truly the gift of life.
Brantley, what would you tell other people considering being living donors?
There are a number of useful resources online, so make sure you educate yourself. I know it’s easier said than done, but try not to stress too much about the surgery. The pain isn’t too bad and goes away quickly, as do the scars.
Want to learn more about becoming an organ donor? Check out OrganDonor.gov for statistics, stories and a sign up!