From Health Central, by Stephanie Stephens
Cari Maxwell, who lives with ADPKD, and her family.
Cari Maxwell
Some women with inherited autosomal dominant polycystic kidney disease(ADPKD) might understandably be hesitant to try to have a family. When clusters of fluid-filled cysts form on kidneys and surrounding tissues, the kidneys enlarge and their function can be reduced, often progressing to kidney failure. Pregnancy outcomes are heavily weighted by the mother's level of kidney function and how well her blood pressure is controlled.
But hesitancy about what's usually called simply "PKD" wasn't a major factor for 40-year-old Cari Maxwell of Manheim, Pennsylvania, a director of operations for a technology company and proud mother of three girls, ages 19, 16, and 6. In an interview with HealthCentral, Cari says she approached the possibility of having children with PKD calmly, rationally, and optimistically.
Cari had learned about her diagnosis at age 18. Her father carried the gene, and she watched her mother help him with hemodialysis in their home until he underwent a kidney transplant in 1987. He died of a stroke in October 2018 at 74.
Managing PKD and blood pressure
Two major categories of blood pressure drugs often used as first-line agents for PKD patients are unsafe during pregnancy because they can potentially negatively affect the fetus: angiotensin-converting enzyme inhibitors (ACE inhibitors) that include benazepril and lisinopril, and angiotensin receptor blockers (ARBs) such as losartan and telmisartan.
Ensuring pregnant women with PKD control their blood pressure and have safe pregnancies and deliveries is often a delicate balancing act.
Cari had never taken blood pressure medication until after she'd had her first two children. She then took the calcium channel blocker Nifedipine ER prior to conceiving her third child, and then was advised to stop that due to potential risks. She was prescribed the beta blocker labatalol for use during that pregnancy.
"It was the best pregnancy of the three," she says. "I felt great."
When her third child was 3 months old, the medication JYNARQUE, or tolvaptan, had started its first trial to treat PKD. She was invited to participate, "but I wasn't willing to cut short nine months of nursing, since the medication isn't recommended during that time," Cari says. She did start a lisinopril regimen following her last pregnancy.
Tolvaptan is designed to prevent PKD cysts from growing or to at least slow their growth. She has been in the tolvaptan trial group since January 2016.
"It is helping me. It does, however, make me go to the bathroom a lot, and I have to drink a minimum of 3 liters of water daily. I still take lisinopril and have lowered it to 20 mg daily."
She understands that the longer she's on tolvaptan, the more benefits she'll have. "I’m getting out ahead of this disease, and I have a lot of hope," Cari says.
PKD risks during pregnancy
Cari is a member of the National Kidney Foundation's Kidney Advocacy Committee, and she champions early detection. The foundation says that 80 percent of PKD pregnancy cases are problem-free, but the other 20 percent are not — if a woman has high blood pressure and reduced or impaired kidney function. This can accelerate to preeclampsia, when the mother’s unusually high blood pressure can result in severe complications for her and her child.
"Patients with preeclampsia can have a systemic reaction with incredibly high blood pressure, seizures, development of heavy 'spilling" of protein into the kidneys — called proteinuria — liver problems including elevated liver enzymes, hematologic or blood problems such as low blood platelet count," says nephrologist and PKD expert Franz T. Winklhofer, M.D., at The University of Kansas Health System. He spoke to HealthCentral in a telephone interview.
A small 2016 study in The Journal of Maternal-Fetal & Neonatal Medicinefound fetal complications between PKD and control groups were the same, with slightly more fetal distress in the ADPKD group. Preeclampsia in patients with simple cysts (2 percent) was similar to that of the general population, but pregnant ADPKD patients did have higher risks for hypertension, proteinuria, edema, urinary tract infection, renal dysfunction, and preeclampsia during their pregnancies.
Monitoring PKD in pregnancy
In reality, many women in their 20s and 30s have children and also have undiagnosed PKD, says Dr. Winklhofer. "In the early stages, women, especially if they're not hypertensive, do just fine. And statistically, this group hasn't been studied systematically."
Most PKD patients aren't diagnosed until their 30s or 40s.
"Patients with PKD don't necessarily follow closely with me until they've developed some renal insufficiency," he says. "And that late in life, not as many try to conceive. But among patients in their 30s, approximately one-third may develop high blood pressure during pregnancy."
The medical literature generally recommends target blood pressure below 130/80 for PKD patients.
Sometimes patients will tell him that they'd had high blood pressure issues "since my first or second child," and the subject comes up anecdotally. Dr. Winklhofer says that the more pregnancies a woman has when she's diagnosed with PKD, the more likely it is she will become hypertensive.
As one might expect, pregnant women with PKD require careful monitoring.
"Most everybody with PKD in general should own a blood pressure cuff anyway," he says. He recommends at least a weekly check, if not more, in conjunction with team care that includes management by an OB-GYN, "who will see them more frequently than I because of the inherent risks of the pregnancy."
Experts and patients agree that if you become pregnant, you will want to do the usual things you do to be "whole-body" healthy, such as getting enough exercise and eating well — including reducing sodium. A current review in UpToDate advises that PKD patients intake no more than 2 grams (2,000 mg) of sodium per day, which will benefit blood pressure control.
Will your child inherit PKD?
Because of the 50 percent chance that a child can inherit PKD, some women wonder how aggressively they should pursue "finding out" whether a baby in utero already has the condition.
"Sometimes obstetricians will see cysts on a fetal ultrasound, and if they don't, that doesn't mean a child won't develop them later," Dr. Winklhofer says. "If a mother doesn't know she has cysts — and is still undiagnosed herself — sometimes a uterine ultrasound will 'accidentally' show cysts on her own kidneys."
Cary says they looked at the baby's kidneys during all three of her pregnancies.
"They were fine, but it's true that we don't know what the long-term prognosis could be," she says. "I was also offered a genetic test all three times, and declined. I believe that whatever happens, happens, and that improvements in medicine may change the future of what's to come for my children. Plus, we have access to great doctors."
Dr. Winklhofer also doesn't recommend screening minors with no symptoms, since there's no effective treatment, and knowledge of the condition could severely impact prospects of obtaining health or life insurance later.
Finally, he reiterates that managing pregnancy with PKD is a very personal journey, and he doesn't dissuade women from trying to conceive.
"I think risks are manageable," he says. "Advances in treatment really have changed the way we think about PKD and pregnancy, especially with tolvaptan, and especially if you get treated with it early enough."
PKD Research
From Investing News
Reata Announces Clinical Trial Design for FALCON a Phase 3 Trial of Bardoxolone Methyl
As quoted in the press release:
The trial, named FALCON, will be an international, double-blind, placebo-controlled, parallel group, Phase 3 trial. The Company plans to enroll approximately 300 ADPKD patients randomized 1:1 to oral, once-daily bardoxolone or placebo. The trial will include ADPKD patients from 18 to 70 years old with an estimated glomerular filtration rate (eGFR) between 30 to 90 mL/min/1.73 m2. The primary efficacy endpoint is the change from baseline in eGFR compared to placebo after 48 weeks of treatment followed by a 4-week drug withdrawal period, the retained eGFR benefit.
FALCON is statistically powered to detect a placebo-corrected, retained eGFR benefit of 1.6 mL/min/1.73 m2. Based upon guidance from the FDA, the 52-week retained eGFR benefit data may support accelerated approval under subpart H. After Week 52, patients will be restarted on study drug with their original treatment assignments and will continue on study for a second year. The second-year retained eGFR benefit will be measured at Week 104 after withdrawal of drug for four weeks. Based upon guidance from the FDA, the year-two retained eGFR benefit data may support full approval.
Gift of Life
From The Hutchinson News, KS
Kidney disease runs in Barb Williams’ family.
Exceptional generosity runs in Donna VanNordstrand’s.
VanNordstrand learned Williams needed a new kidney via a bulletin board posting at the Hutchinson Clinic, where both women have worked for nearly 30 years.
She only knew Williams in passing, but VanNordstrand signed up as a potential donor almost immediately and has since been approved for the organ donation, which is set for Jan. 30.
VanNordstrand has a brother living in Texas who donated his kidney to someone at his church about five years ago, she said. She hadn’t talked with him much about it but knew it hadn’t negatively affected his life.
“I’ve always been thankful for good health,” said VanNordstrand, 60. “It means a lot to be healthy. I’ve known so many people who aren’t and I’ve had good friends pass away. I wanted to pass my health on to someone else.”
“It’s such an awesome gift,” Williams said.
Exceptional generosity runs in Donna VanNordstrand’s.
VanNordstrand learned Williams needed a new kidney via a bulletin board posting at the Hutchinson Clinic, where both women have worked for nearly 30 years.
She only knew Williams in passing, but VanNordstrand signed up as a potential donor almost immediately and has since been approved for the organ donation, which is set for Jan. 30.
VanNordstrand has a brother living in Texas who donated his kidney to someone at his church about five years ago, she said. She hadn’t talked with him much about it but knew it hadn’t negatively affected his life.
“I’ve always been thankful for good health,” said VanNordstrand, 60. “It means a lot to be healthy. I’ve known so many people who aren’t and I’ve had good friends pass away. I wanted to pass my health on to someone else.”
“It’s such an awesome gift,” Williams said.
Numbers to know
444,552 kidney transplants were performed in the U.S. from 1988 through last Friday, accounting for nearly 60 percent of all organ transplants.
113,809 people nationwide were on the waiting list for a lifesaving organ transplant as of Monday, of which more than 65 percent are considered “active waiting list candidates.”
419 people in Kansas are in need of an organ transplant, of whom 301 need a kidney and 113 a liver, and nearly 2,000 in Colorado, including 1,547 needing kidneys.
2 ½ to 3 years is the average time a person spends on the waiting list for a kidney transplant.
One donated kidney is needed to replace two failed kidneys.
Go to https://optn.transplant.hrsa.gov/ to learn more.
Source: Organ Procurement and Transplantation Network, U.S. Dept. of Health and Human Services
Inherited
Williams, 66, suffers from polycystic kidney disease. She comes from a family that has a long history of kidney problems because of it.
About 1 in every 1,000 people suffer from the PKD, said Hutchinson nephrologist Dr. Patrick Fluck, at the clinic. The disease causes cysts to grow on the kidneys, and sometimes the liver, causing the organs to become enlarged and cause pain.
Many patients with PKD, though not all, will develop kidney failure, Fluck said. Other complications include high blood pressure, hernias, and aneurysms.
There’s supposed to be a 50/50 chance of getting the hereditary disease if it’s in a family, Williams said. Two of her three children, however, have also been diagnosed with it. The kidneys, necessary for drawing toxins from the blood, start to lose function and may eventually shut down.
“There’s nothing you can do except get a transplant or go on dialysis,” Williams said. “I found out I had it when I was 35. I knew it was coming; I just didn’t know when. Finally, it caught up with me.”
She’s been on dialysis for about two years. One of her sisters, who was too ill to undergo a transplant, relied on dialysis for more than 20 years before she died. Her other sister is also on an organ transplant list.
Williams had initially been expecting to receive a kidney from one of her adult sons and they’d been through the testing process.
But when another son developed severe symptoms of the disease late last year at just age 37, the family decided her son’s kidney should go to his brother and Williams should seek another donor.
That’s when the notice went up the employee break room. She also posted the need on Facebook.
“He’s had more pain than I ever had,” Williams said of her son. “Everyone reacts differently” to the disease and how quickly or severely it affects them.
Several people besides VanNordstrand went to the transplant hospital’s website, www.uchealthlivingdonor.org, to fill out a questionnaire as possible donors, Williams said, including people she didn’t know. But VanNordstrand was quickly identified as a potentially good match and she was asked to undergo testing.
No surprise
Both women have worked as administrative assistants at the clinic for many years. Williams, who currently works in the business office, has been there 27 years, while VanNordstrand, now in administration, for 29.
She was initially surprised that VanNordstrand signed up, Williams said, since she didn’t know her well.
“Until I started thinking about what kind of person she is, and then it didn’t surprise me at all,” Williams said. “When I tell other people, they’re not surprised either... She’s always a very pleasant person who’d do anything for anybody.”
That includes Hutchinson Clinic CEO Mike Heck, who noted VanNordstrand had been his assistant the last 2 ½ years, and “in which time I have had an opportunity to get to know her kind and gentle nature.”
“When Donna came to me and said she would need time off to donate a kidney to a coworker, it did not surprise me in the least,” Heck said. “Donna is exactly the kind of person who would do anything she could to help a fellow human being.”
“I am heartened to say that Donna was not the only employee who stepped up to try to help Barbara in our business office,” Heck said. “Knowing we have the kind of staff that shows that level of compassion for others is what makes leading this organization so rewarding. I think it speaks volumes to the type of people we hire and the commitment our staff has to the well-being of others.”
She’d hoped to get a transplant before she went on dialysis, but her kidney function wasn’t low enough to get on the donor list. Then, when she qualified, there were delays.
She undergoes dialysis three afternoons a week, after which she’s too exhausted to work. She still has to put in 40 hours a week to keep her benefits, however, so her other days are long ones.
The treatment and its effects also prevent her from traveling to see other family, including her oldest son who lives in California.
A transplant, Williams said, will give her a new lease on life.
VanNordstrand grew up in McPherson and graduated from high school there, but has lived in Hutchinson since she married in 1980. At the clinic since 1990, she worked in the lab seven years before moving up to the administration office.
A regular blood donor, who also signed the place on her driver’s license to donate her organs if she died, VanNordstrand said she never thought about being a live donor until she heard about William’s need.
The previous actions of her brother, David Seibel of El Paso, Texas, also inspired her.
“He got along great and thought it was a cool experience,” VanNordstrand said. “I thought ‘If he can do it, I can do it.’”
“Just felt right”
VanNordstrand heard about the flyer, though it was down when she went to look. The next time she saw Williams at work, she approached her to get details and then signed up online. A phone call from the donation center followed, and then blood and urine tests.
Eventually, she got a call asking if she’d be willing to go to the University of Denver for additional tests.
“That was a long day,” VanNortstand recalled, which included lab work, an EKG, chest X-rays, stress test, CT scan and several interviews, including with a dietician, social worker and the surgeon. They also interviewed Jim, her husband of 38 years.
She didn’t tell her husband when she initially signed up, but after getting the callback, they had a discussion, she said.
“In the very beginning he (objected), but we talked it through and he’s been totally on board since,” VanNordstrand said. Her two daughters, after expressing some concern, also now support her decision.
“They’re excited about it,” she said. “They’re proud of me. I’d love it if someday, if they were in that position, that they’d do it too.”
Both women will have to travel to Colorado five days in advance of the surgery for pre-op. VanNordstrand will have to remain another five days after the surgery, while Williams expects to stay six weeks. She chose a Colorado hospital for the surgery because, besides the facility having an excellent reputation for transplants, a sister and son live in Denver and she can stay with them.
The surgery, which takes about three hours, is done primarily arthroscopically, so the incisions will only have to be as large as the kidney. It’s a mostly successful surgery, with a failure rate from living donors only about 3 percent after a year and 14 percent after five years from a transplant, Dr. Fluck said.
“I know that God put Barb and me together for this opportunity,” VanNordstrand said. “During the process of testing and waiting to find out if we were a match, it just always felt right to me and I was sure it would work for us. God gave me that assurance.”
PKD Fundraising
From PKD Foundation
If you forget everything you learned in school about genetics, you get a refresher course when your child is diagnosed in utero with a genetic disease like autosomal recessive polycystic kidney disease (ARPKD). My name is Blaine Moore, and my wife Michele and I are both carriers of the recessive gene that triggers polycystic kidney disease (PKD). Since this gene is recessive, each of our children had a one in four chance of carrying the disease. Our fifth child, Matthias, has the disease. From a statistical standpoint, our other four sons beat the odds, and from a health standpoint, Matthias has also beaten the odds. Due to complications of his condition, Matthias faced some steep challenges as an unborn child and also in his first few weeks after being born. Those early days required a good amount of prayer and love and the care of some truly special medical professionals. Now we are blessed and grateful that he is 15 years old and at this point is symptom-free, with normally functioning kidneys and a passion for baseball.
Blaine, crossing the finish line at the “Little Apple Marathon” in Manhattan, Kan.
Our family has been aware of the PKD Foundation for a number of years, but only recently found just the right way to get involved. As an avid runner, I began training for my first marathon in the late summer of 2018. I knew that people often run for a cause or a charity, and my choice became instantly clear: I would run to raise support and awareness for the PKD Foundation. It is also true that every runner has a “why,” the one thing that keeps them going, especially on a long run. My “why” during my marathon would be my son, Matthias.
When I called the PKD Foundation the first time, I didn’t know if anyone had ever done what I had in mind. I was thrilled to find out about their Fundraise Your Way program. One helpful conversation with a member of the Foundation’s fundraising team set me on the right track, and within a couple of days I had created my own FYW page and had my first donors. Putting together my fundraising page was so simple and straightforward! Best part: it felt amazing to be doing something small to help the greater good. By simply linking an activity I was going to do anyway with FYW, I was able to join in the work of the PKD Foundation. The same could be true for anyone who wants to make a difference but is struggling to figure out how to make it happen. FYW is the way to make it happen.
Your events, hobbies and celebrations are only one step away from giving hope to the PKD community. Head over to the Fundraise Your Way page to create your fundraising page now and start spreading the word!
Make A Wish
Wishes come true — or, at least, Keira Freeman’s did.
Freeman, an 11-year-old with polycystic kidney disease (PKD), recently returned from an all-expenses paid vacation to Hawaii, courtesy of the Make-A-Wish Foundation.
Make-A-Wish is a 501(c)(3) nonprofit charity that funds and grants “wishes” for children with life-threatening medical conditions, like PKD.
Freeman’s desire to travel to Hawaii was not based off of typical tourist attractions, but was instead inspired by a long distance friendship with a 17-year-old girl, Emily Travis, who also has PKD. The girls have been friends since the PKD Foundation connected them about two years ago.
So, in December, Freeman — accompanied by her mother Kristi Wilson, aunt Tracey Allen and siblings Brooklyn and Peyton Wilson — spent seven days in Oahu.
According to Freeman, she enjoyed a variety of activities like visiting Pearl Harbor, swimming with dolphins, seeing unique animals at a local zoo and of course, meeting and snorkeling with Travis.
Freeman’s mother said that the most rewarding part of the trip was witnessing her daughter meet her friend.
“It was fantastic,” Wilson said. “Her meeting Emily was amazing because there’s not many people around here with PKD around her age. Having conversations with her was neat.”
Wilson also noted that the wish was good for the whole family.
“We were relaxed, not stressed, and only had one bad day,” she explained, adding that her daughter only struggled with her PKD one day, but that she bounced back quickly.
Freeman, an 11-year-old with polycystic kidney disease (PKD), recently returned from an all-expenses paid vacation to Hawaii, courtesy of the Make-A-Wish Foundation.
Make-A-Wish is a 501(c)(3) nonprofit charity that funds and grants “wishes” for children with life-threatening medical conditions, like PKD.
Freeman’s desire to travel to Hawaii was not based off of typical tourist attractions, but was instead inspired by a long distance friendship with a 17-year-old girl, Emily Travis, who also has PKD. The girls have been friends since the PKD Foundation connected them about two years ago.
So, in December, Freeman — accompanied by her mother Kristi Wilson, aunt Tracey Allen and siblings Brooklyn and Peyton Wilson — spent seven days in Oahu.
According to Freeman, she enjoyed a variety of activities like visiting Pearl Harbor, swimming with dolphins, seeing unique animals at a local zoo and of course, meeting and snorkeling with Travis.
Freeman’s mother said that the most rewarding part of the trip was witnessing her daughter meet her friend.
“It was fantastic,” Wilson said. “Her meeting Emily was amazing because there’s not many people around here with PKD around her age. Having conversations with her was neat.”
Wilson also noted that the wish was good for the whole family.
“We were relaxed, not stressed, and only had one bad day,” she explained, adding that her daughter only struggled with her PKD one day, but that she bounced back quickly.
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