Lauren is living with rapidly progressing autosomal dominant polycystic kidney disease, or ADPKD, and taking JYNARQUE® (tolvaptan).
Lauren’s family has a long history of autosomal dominant polycystic kidney disease (ADPKD). Her great-grandfather had it, her grandfather died young from it, and her father was diagnosed with it at 29. Growing up, Lauren always knew that her father had ADPKD and that she could have it as well. When she was diagnosed, she did all she could to manage it. Her parents prepared her from a young age to take care of her kidneys, and now Lauren wants others with ADPKD to do the same and be proactive about their treatment.
Please remember that none of the information discussed in this article should replace the conversations with your healthcare provider. Lauren is sharing her own thoughts and experiences, so please keep that in mind as your thoughts and experiences may be different.
Talk to your doctor to see if JYNARQUE is right for you.
From a young age, you knew your father had ADPKD. How was that explained to you as a kid?
Lauren: I am thankful that my parents didn’t hide anything from me regarding my dad’s ADPKD. I don’t remember ever not knowing that there was a 50 percent chance that I might also have it. My parents suggested that I check my blood pressure consistently, follow a low-protein and low-sodium diet, and drink lots of water so that if I did have ADPKD, I would be doing something to help my kidneys. It wasn’t something I feared; I was scared of what the future would bring for my dad, though.
Why were you worried about your dad’s future with ADPKD?
Lauren: At the time, my dad’s only option for treatment was to wait for kidney failure and seek a transplant.
When I was around 10, his condition worsened. His creatinine levels had gotten to the point where he was placed on the kidney transplant list and started on dialysis. I have a lot of memories of meals in the hospital cafeteria with my mom while my dad was on dialysis.
How did you discover that you also had ADPKD?
Lauren: It was when my husband and I were expecting our first child and I had my first ultrasound. It was in my medical history that my father’s family has the gene for polycystic kidney disease, so as part of the routine ultrasound, they checked mine and the fetus’s kidneys. The fetus’s looked great, but mine were cystic. They looked like gigantic grapes under the microscopic lens. I left knowing that I would be having a girl, and also that I did indeed have ADPKD.
Other than knowing about my genetics, this was something I had no outward indication of. I did not dwell on the sadness, but I could not help but wonder if this was something I would pass onto my offspring like it was passed down to me. I decided right then that I would not hide ADPKD from my kids, just like my parents never hid my dad’s diagnosis from me.
What next steps did you take to manage your ADPKD?
Lauren: I followed up with my primary care physician. We agreed I was to monitor my blood pressure regularly and have check-ups every six months. Eating low-protein, watching sodium, drinking lots of water, and regular exercise would also help.
I kept up with that advice. Then about five years later, I experienced swelling in my legs and high blood pressure. I went to my regularly scheduled nephrologist appointment and she recommended starting a low dosage of blood pressure medication. My health choices helped me maintain kidney function, but, not unexpectedly, the cysts in my kidneys were growing, as we knew they would.
“I could not feel more hopeful. I felt like I owed it to my kids to search for something that could help with a condition we all might share.”
So you were doing everything right, but your ADPKD still progressed?
Lauren: I felt like I had prepared for this for more than a decade. I monitored my blood pressure daily, but it still increased. My urinalysis was also good, but my GFR showed signs of a decrease in kidney function. I didn’t feel quite right and was exhausted at night. My legs retained water, and I felt anemic although my iron levels were normal. Plus, a CT scan showed my kidney cysts had grown larger. I was so fatigued that it was hard to keep up with my young family and my job.
What did you turn to for more help with managing ADPKD?
Lauren: When I went back to my nephrologist’s office for a six-month follow-up, I could tell something was different. My nephrologist walked in the room, excited about something. She inquired if I had heard about JYNARQUE for adults with rapidly progressing ADPKD. She read me some of the physician prescribing information and the Medication Guide and asked if I would be interested in it. I said, “Absolutely.” I had actually already heard of JYNARQUE through the PKD Foundation. It had just recently been FDA-approved, and I was prepared to ask my doctor about it even before she brought it up.
What made you interested in JYNARQUE as a potential treatment?
Lauren: For years, a treatment other than dialysis and transplant had been sought for ADPKD. Finally, at a time when I needed it most, it was available for patients like me with rapidly progressing ADPKD. I could not feel more hopeful. I felt like I owed it to my kids to search for something that could help with a condition we all might share.
“My children have a 50/50 chance of having this condition, but I want them to see it does not have to hold them back.”
What was it like to get started on JYNARQUE?
Lauren: I did need to get additional bloodwork, urinalysis, and insurance approval to see if I qualified for the treatment. My doctor explained that JYNARQUE can cause serious and potentially fatal liver problems, so it is important to adhere to scheduled check-ups to test liver enzymes to ensure my liver is working properly. The nurse also gave me paperwork to fill out for the JYNARQUE Risk Evaluation and Mitigation Strategy, or REMS program, which helps reduce serious risk of liver injury by monitoring liver function through scheduled blood testing.
I got a call on Christmas Eve telling me that I had been approved and that the specialty pharmacy would call me to arrange my first shipment. The timing felt perfect, falling on the same holiday that my dad got his first successful transplant. The first week I was on JYNARQUE, I did transition to taking more water in and putting more urine out. I have learned to plan ahead whenever I have to go on a long trip or somewhere without a restroom.
I’ve been on JYNARQUE for a while now, and my doctor says my kidney function decline has slowed. With healthier management of my ADPKD, my water and sodium levels are better.
What do you hope the future of ADPKD will look like—whether it’s your own future with the condition, or just in general?
Lauren: I hope I might only need one transplant, unlike my dad, who ended up with two. I’m glad I at least have the opportunity to do something proactive. With JYNARQUE, I know that I’m doing something twice a day to slow the decline in my kidney function.
I am excited to share my story of hope. My children have a 50/50 chance of having this condition, but I want them to see it does not have to hold them back. I can’t change yesterday, but I know the future will bring us more advances. ADPKD is a piece of who we are, but we have not let it define us.
CT=computed tomography; GFR=glomerular filtration rate.
Patients were compensated for their time.