Barriers are being broken when it comes to Nephrotic Syndrome advocacy and awareness, and the woman behind the effective disruption is Donna Phenald, NephCure Kidney International’s Community Fundraising Director. Donna’s hard work and dedication has led the entire state of Louisiana into a month of recognition and celebration for the duration of June, which is officially ‘Nephrotic Syndrome Awareness Month’ state-wide.

Behind the scenes, Donna’s hard work and perseverance came together to achieve this amazing feat. She explained the process of meeting and speaking to the right government officials is crucial in securing a proclamation and getting it passed.

“Relationships are key to just about anything you do that you want to be successful at. So last year, when a friend of mine asked the Lieutenant Governor if he could find us a venue, not only did he say yes, but offered to serve as Honorary Chairman,” Donna said. Once she had built a relationship with the Lt. Governor’s office, she kept going back for more.

NephCure CEO Josh Tarnoffand Donna met with Lieutenant Governor Billy Nungesser and his Senior Advisor, Josh McNemar, back in February 2019 to discuss NephCure’s role, the importance of finding better treatment options, and the upcoming Louisiana event, Boogie on the Bayou. From that meeting, Lt. Gov. Nungesser made several commitments to help bring awareness to NephCure, as well as raise money for its mission.

“I’m like a dog with a bone! I won’t let go! If he [Lt. Gov. Nungesser] offers to do something, I write it down and follow through. He is unlike any politician I’ve ever met,” Donna exclaimed.

Donna also mentioned Sr. Advisor McNemar’s key role in advising her on how to get a Resolution to the Louisiana House and Senate. He helped her bring further awareness of Nephrotic Syndrome to other key politicians in the state.

She then took the liberty of asking Senator Gerald Long and Representative Charles Chaney if they would consider co-hosting a concurrent resolution. To Donna’s delight, they both gladly accepted.

“Was it hard to do? No. I just had to be willing to do things out of my comfort zone and talk to people I don’t know. If I don’t ask the answer is no; however, if I do ask, I will get the occasional yes,” she said.

Continuing the process, Donna forwarded the information to Senator Long. Once the Resolution was complete and ready to be presented in open Senate Session, Donna asked that she be allowed to invite someone who has personally gone through the struggles that come with a Nephrotic Syndrome diagnosis

“The one thing that I truly believe is most beneficial above all others, is having patients tell their stories!  It will—and does—make a huge impact on anyone listening. It makes all of this real and in many cases brings it closer to home. Sure, I need to know my stuff on NephCure, economic impact, how far the organization has come in less than 20 years, but real people soften hearts,” Donna explained.

On May 22, 2019, Donna, Focal Segmental Glomerulosclerosis (FSGS) patient Nathan Roy, and his brother, Joshua, a NephCure Board Member, were invited to the Louisiana State Capitol Senate Chamber. Senator Long introduced Nathan and highlighted the struggles he has faced living with rare kidney disease for more than 20 years. Sen. Long also highlighted the remarkable accomplishments Nathan has made throughout his life while battling FSGS, as well as the extremely important role that NephCure plays in the fight to find better treatment options and care for these rare kidney disease patients

As far as future plans go, by the year 2020, Lt. Gov. Nungesser has pledged he will take a National Resolution to Washington, DC; making the future for Nephrotic Syndrome awareness bright.

Thank you to Donna for seeking out for this bold accomplishment and making it come to life. We are grateful and proud to have the month of June serve as Nephrotic Syndrome Awareness Month in Louisiana.

31 million: that is the number of individuals affected by some form of kidney disease in the United States. Although that number is astronomical, the information we know about each individual kidney disease is limited. But roughly 9 years ago, Dr. Martin Pollak, Chief of Nephrology at Beth Israel Deaconess Medical Center, in collaboration with other top researchers and global collaborators, discovered a key piece of information.

Dr. Pollak, his team, and many collaborators, spent years utilizing the latest genetic technology tools to further study, research, and learn about the two common genetic variations in the apolipoprotein L1(APOL1) gene. But what exactly is APOL1?

Dr. Martin Pollak

Every human being inherits two copies of the APOL1 gene, one from mom and one from dad. But this recent research has identified a groundbreaking insight: thosewho inherit two common variations in the APOL1 gene have a ten-fold increased risk for developing kidney diseases like focal segmental glomerulosclerosis (FSGS). These variants are only present in African Americans and others with recent African ancestry.

African Americans are three times more likely to get kidney disease than those of European descent. The APOL1 genotype is common in Africa because it provides protection against parasites, including a disease called African Sleeping Sickness. Transmitted by a fly, this disease is common in eastern Africa and can cause fever, anemia, and even death.

While the gene mutations can be beneficial to some people who still live in Africa, for African Americans it can provide more risk than protection.

“Having these genetic variants doesn’t cause everyone with this genetic profile to develop kidney disease, but it increases their risk by a lot,” Dr. Pollak explained.  “You have to inherit one of these gene variants from both parents, but a lot of times people don’t know the details of their ancestry.  However, many people who have this high-risk APOL1 genotype don’t show any signs or symptoms. It’s possible that many of those with the variation won’t ever develop any form of kidney disease.”

Although Dr. Pollak doesn’t discourage those without signs or symptoms of kidney disease from being genetically tested, he expressed it may not be that helpful in the short-term care of individual patients. While there are currently more potential treatments for FSGS and other glomerular kidney diseases than ever before, none of the drugs are directly linked to assisting with genetic mutations.

Infographic courtesy of wakeforestinnovations.com

“Currently, it’s not clear that knowing the results is going to directly impact the way we take care of people. This could easily change in the future,” Dr. Pollak said.

However, NephCure does encourage those with an increased risk of developing kidney disease to take precautionary measures and make conscious lifestyle decisions to put your kidney health at utmost importance.

Since the breakthrough discovery of APOL1’s relationship to FSGS in 2010, Dr. Pollak and many other investigators have been working on furthering research around this particular gene, in addition to better understanding the specific gene variants. Finding which pathway leads to the main driver of kidney disease is still an open question that many researchers and doctors ponder over.

“There are limitless studies we can do. Right now, we’re focusing on where the damage occurs inside the cells, and we’re trying to understand why some people with variants of the disease get it and some do not,” Dr. Pollak shared.

The APOL1 discovery is a key to unlocking the mystery of kidney disease. Uncovering a connection like this has provided researchers around the world invaluable information to work towards finding potential new treatments targeted at this genetic mutation.

Dr. Pollak is the Chair of NephCure Kidney International’s Scientific Advisory Board. He has served on the Board since 2011. Dr. Pollak is the Chief of Renal Division at Beth Israel Deaconess Medical Center in Boston, MA and a Professor of Medicine at Harvard Medical School.

On November 15, 2018, the Nephrotic Syndrome Clinical Trial Recruitment Collaborative Summit was held in Washington DC. Over 120 senior-level stakeholders from around the world, representing diverse parties (FDA, ASN [American Society of Nephrology], biopharma companies, patients, clinical researchers, and NephCure) met in unprecedented collaboration to assure the recruitment success of the many current drug trials that will likely evolve into those future treatments. We asked two patient parents, David and Stephanie, who were in attendance at the summit to reflect on the innovative ideas, future treatments, and solutions which were discussed during the meeting.

Three years ago, our adult son was diagnosed with Focal Segmental Glomerulosclerosis (FSGS). This was an extremely difficult time for him and our entire family. As healthcare professionals ourselves, we combed through the medical literature and turned to our colleagues for answers. To our surprise, all we found were a few generic treatments for the condition, nothing disease-specific, based on clinical research that had appallingly low numbers of participants. There was only one clinical trial in progress and no glimmer of better treatments or cures in our future.

Through our searching, we found NephCure Kidney International and quickly attended a local outreach meeting. We were heartened by what we discovered: enthusiastic staff from the organization, a local researcher focused on FSGS, and other patients and families who were facing the same challenges. While we had not found a solution, we had found a community, and that gave us a great deal of comfort and encouragement.

Fast forward to 2018 when an amazing shift occurred—the arrival of 16+ clinical trials testing potential new treatment options for FSGS, IgA Nephropathy and other rare kidney conditions. Finally, the dream of more effective medicines with less harmful side effects became a closer reality for our son.

While this is incredibly encouraging news, it also presents significant challenges. Getting new treatments to the pharmacy shelf relies on willing patients to be part of clinical trials. History shows that filling trials for any disease is difficult, including those affecting millions of people such as cancer and heart disease. In the case of Nephrotic Syndrome, a rare condition, finding patient volunteers to participate in clinical trials is doubly hard. This is critical. Only last week when our son applied to participate in a major trial he learned it had just been closed due to lack of participants. Opportunity lost.

It was both the threat of unsuccessful trials and the promise of new and better medicines that prompted NephCure, together with members of the US Food and Drug Administration, the American Society of Nephrology, the Kidney Health Initiative, and the National Institutes of Health, to jointly develop the Clinical Trial Recruitment Collaborative meeting in Washington, DC on November 15, 2018. We were fortunate to have attended the ‘all-hands’ meeting where we witnessed firsthand the passionate and dedicated group of individuals laser-focused on filling clinical trials for Nephrotic Syndrome. It was encouraging and exciting to be in a room filled with 100 of the leading international researchers; clinicians; pathologists; staff members from the FDA, the NIH, and the ASN; representatives of pharmaceutical companies; patients; and family members coming together to find solutions to ensure these trials will not go unfilled. The sheer number of highly committed people in the room who truly cared about Nephrotic Syndrome treatments was inspiring.

With a clear understanding of the once in a lifetime opportunity unfolding before us, we left the meeting with a renewed sense of purpose and strong desire to spread the word to other patients and family members:

The time is now—with 16+ clinical trials in progress for Nephrotic Syndrome, 9 of which are specifically for FSGS, this day in time holds great promise for patients. It is imperative that all patients and families affected by these rare conditions heed the call to action by standing ready to be part of the clinical trial revolution.

Equally important, the Gateway Initiative has become a central hub for information, entry to clinical trials, and expert opinion resources. We encourage you to join this global movement by visiting KidneyHealthGateway.com, a user-friendly website created to help patients easily find the best clinical trial for their health condition. By taking this important step, you are not only finding trials right for you or your loved one—but also doing your part to move research forward and make better treatments a reality. In addition, NephCure has announced a strategic partnership with the IgA Nephropathy Foundation of America to combine resources and ensure that no potential new treatment fails due to lack of patient volunteers.

We hope to see better treatments and improved outcomes for our son and others like him, and one day, a cure. These once lofty goals may finally be on the horizon. We are grateful for the many dedicated individuals and organizations that are working to make this happen.

Sincerely,

David and Stephanie

Patient Parents

A dedicated volunteer herself, now managing our ever-expanding nationwide army of NephCure supporters, Allison Kostiuk is leading the pack of our Regional Volunteer Communities. Our newest regional initiative is a massive undertaking, but one which Allison sees as an amazing opportunity to help empower people, get patients quicker access to expert care, and ultimately raise more awareness for Nephrotic Syndrome. Allison, NephCure’s Manager of Volunteer Programs, makes it look easy. Find out what makes her job so unique and learn more about our new Regional Volunteer Communities that are changing the game for NephCure.

NephCure: How long have you worked for NephCure? 

Allison Kostiuk: From February 2015 to September 2016, I was the Regional Manager for the Eastern Region. I returned to NephCure in March 2018 as a Patient Engagement Manager, and in August 2018 I took on the exciting role of Manager of Volunteer Programs.

NephCure: You’ve recently been involved with creating, managing, and recruiting our volunteer communities. What has that experience been like?

Allison: This has allowed me to be entrepreneurial in my way of doing my day-to-day job, as we have never had this structure before. I love the creativity and the “learning by doing” at times. It has also allowed me to meet some amazing volunteers who have always been supporters of NephCure—when asked to step up and do more, they raised their hands and said “Pick me!” Amazing!

NephCure: Why are volunteers so valuable to an organization like NephCure?

Allison: Volunteers bring such depth to an organization like NephCure, as they bring not only their time and expertise, but first-hand knowledge of living with Nephrotic Syndrome.

NephCure: Can you tell us more about the structure of the volunteer regional communities?

Allison: For this first year, we have 12 Regions in the United States, some bigger than others, but this is a place to start. Each region has a Volunteer Leader, a Regional CEO if you will. The leader will work to manage, motivate and recognize the volunteers while meeting our goals and objectives as an organization. Then we have lead volunteers in Advocacy, Fundraising, Marketing/Communications, Patient Engagement/Support, and Voice of Patient.  As new patient families meet us and indicate they want to get involved, a short training per area will occur and they will be introduced to their area lead. Each volunteer will play a role in that region in that area. We are also working to create regions internationally.

NephCure: What excites you most about the future at NephCure?

Allison: This larger corps of volunteers to help us meet our missional goals as an organization and to connect to more folks locally so that they don’t feel so isolated.

NephCure: What are some challenges have you faced with this major task of the regional volunteer communities?

Allison: Some regions are very big geographically, but like I stated above, we had to start some place this first year. Eventually, we would love to see a Regional Leader in each state, with a smaller geographic area to connect.  International Regions will also be a challenge, but it is a great need to help connect these families to NephCure.

NephCure: How will these volunteers have an impact on the way NephCure is run?

Allison: NephCure’s biggest asset has always been our volunteers.  This new structure will ensure our volunteers feel equipped, supported and recognized for their important roles.  This structure can also address local needs more efficiently. If you would like to get involved and volunteer for NephCure, the best way is to reach out to me is via email: akostiuk@nephcure.org.

NephCure: When you’re not focused on volunteers and NephCure, what are you doing?

Allison: Spending time cheering on my four athletic kids and coach husband. I am also a runner and try and get out as much as possible to “get away” from my loud house. I am a volunteer outside of NephCure as well, and because of that, I can truly thank our volunteers for their passion, expertise and hours they dedicate to this cause, to NephCure.  I spend my days thanking people. It’s priceless.

Geeta Moreau first went into kidney failure in 2005—an extremely tough situation to handle for anyone, but especially for an independent and successful woman like herself. Throughout her triumphs and struggles, Geeta has remained true to her core of positivity and optimism. We asked Geeta to share her experiences and inspirational story to help others who may find themselves in similar situations.

If there ever was a time to look within for hope and sheer will to live, it’s when I relapsed with Focal Segmental Glomerulosclerosis (FSGS) last summer. It was May 1, 2018, two weeks before Mother’s Day. I feared a relapse may happen considering I was recovering from a divorce and rebuilding a new chapter in me and my son’s life. And there it was fear realized—I thought about who would take care of my son.

It was different the first time I went through kidney issues, but one symptom was the same: the edema. The sudden swelling to indicate the something was happening, 30 pounds of edema.

I went through stage four kidney failure in September 2005. I lost all independence to care for myself. My lesson to learn and allow loved ones to care for me was humbling and uncomfortable at times. I didn’t know how to handle all the side effects from my various medications. I also didn’t socialize much because I was so acute and didn’t want people to see me sick. I wanted to be remembered a certain way.

This time around I’m working hard, taking care of my son and myself, I’m working toward a better life. Although FSGS is not as acute as kidney failure, other factors come to mind: parenting, career, but most of all health. I’m a single mother and want to see my son grow up. I’m continuing to work in my field through my chronic illness, although it is a struggle at certain times.

Another thing I encountered was a sudden onset of 30 pounds of edema. The physical weight was also a metaphor for the weight of the stress I was feeling. I had no idea how or what I was going to do, but I knew it was going to be looking forward to things in the future to stay alive. It was survival mode. I had read somewhere that when you’re sick make future plans, it helps the mind to look forward to something and betters your chance for survival.

The most cathartic part of this process is I’m starting to share my story in hopes of helping others gain hope and resilience to fight for their own health. It’s difficult to share my personal experience of living with FSGS. I’ve always been a friendly person, but remain fiercely private at the same time.

Anything I could do to keep a glimpse of optimism, I do it. Meditation, drawing, practicing guitar and music. My son’s a great reminder of the art of play and playing in the present is such a healer. I’m reminded daily the possibilities of the impossible.

I also know how to better manage my own self-care, how to handle the side effects from the medications, but back in 2005 I was in a much more acute state. I went into a full remission in 2007/2008. I was on high doses of prednisone, cyclosporine, and other medications to keep my body systems in check as everything is affected when my kidneys were not functioning correctly. To say it’s difficult physically and mentally is an understatement.

Life does have its consequences. The medications that saved my kidneys affected my bones. In 2009, I was diagnosed with avascular necrosis of the hip, bilateral in 2010. Bone death. I walked with a cane for two years. Lived with chronic pain and limited mobility. In 2011, I got married, honeymooned and had hip replacement surgery. Then it was ‘getting my health back’ mode. I wanted to get off the pain medications to try to have a baby. I was hopeful yet realistic. I did get pregnant and had a miscarriage in the 9th week in 2013. Though I had read it was common for that to occur, it was a sad time that I worked through. I kept thinking that my body is receptive to conceiving. Within two months I was pregnant again, and I had a healthy pregnancy.

In November 2014, I delivered a beautiful baby boy naturally with a hip replacement. I thought a c-section was inevitable, but my perinatologist advised me to be in good shape, pay attention to my body and well-being. Motherhood is the best thing that ever happened to me; it reminds me every day how life is possible.

I did have a ten-year remission after all. These recent days, my kidneys are responding to the medications within nine months. I have not been on dialysis or had a transplant. I’ve always felt fortunate to be able to tackle this chronic disease with medications. Acupuncture helps me tremendously, balancing my mind and body.

Optimism has always been in my nature, even before I fell ill. But when I got sick and lost all independence to work and care for myself, optimism became a practice. It was a matter of survival, life or death.

My tendency is to look forward. I don’t ask why this chronic condition is happening, rather I channel the energy to eat right, exercise, and work toward gaining kidney health. I do what I can control, and the rest I keep the faith and spirit of positivity close to my heart.  It’s not easy, but it’s a will to not only survive, but to thrive. I hope to be in a full remission again. I remain optimistic because I’m grateful to be alive.

– Geeta Moreau

(KING OF PRUSSIA, PA – MARCH 8, 2019) NephCure Kidney International (NephCure) is proud to announce the addition of three new members to its Scientific Advisory Board (SAB). Joining the distinguished SAB are Laura Barisoni, MD; Alessia Fornoni, MD, PhD; and Marva Moxey-Mims, MD.

“Our Scientific Advisory Board is made up of leading basic science and translational researchers, all of whom have made great strides in pushing glomerular disease research forward. We are thrilled to welcome Drs. Barisoni, Fornoni and Moxey-Mims to this esteemed group,” Irving Smokler, PhD, Board President of NephCure announced.

NephCure’s CEO, Joshua Tarnoff, added, “All three of our newest Scientific Advisory Board members bring diverse expertise and experiences that embody the spirit of our NephCure community. We are very fortunate to welcome them to our team, as 2019 is a pivotal year for clinical research and bringing forward new and effective treatments.”

The chairman of NephCure’s SAB, Martin Pollack, MD, also congratulated and welcomed the new members, “We are thrilled to welcome Drs. Fornoni, Barisoni, and Moxey-Mims to the Scientific Advisory Board.  All three are outstanding and dedicated physician-investigators who are committed to improving our ability to care for individuals with glomerular disease.”

Laura Barisoni, MD

Laura Barisoni, MD is currently a Professor of Pathology and Medicine at Duke University Medical School. She is an accomplished diagnostic pathologist and an internationally recognized expert in the field of digital nephropathology and the use of digital image recognition as a diagnostic tool, particularly for glomerular diseases. Dr. Barisoni is the current President of the Renal Pathology Society, where she previously served for four years on the Board of Directors.

Actively involved in NIH-sponsored grants on podocytopathies and clinical trials on Nephrotic Syndrome and Fabry’s disease, Dr. Barisoni also has remarkable teaching experience at numerous national and international courses in renal pathology.

Alessia Fornoni, MD, PhD

Alessia Fornoni, MD, PhD is a tenured Professor of Medicine and Molecular and Cellular Pharmacology at the University of Miami Miller School of Medicine. She is also the Chief of the Katz Family Division of Nephrology and Hypertension and serves as Director and Chair of the Peggy and Harold Katz Drug Discovery Center. Dr. Fornoni’s lab was the first to report an important role of sphingolipids and cholesterol in the modulation of podocyte function in focal segmental glomerulosclerosis.

Her internationally recognized research findings, which are now being translated into humans with novel therapeutic applications, have challenged existing paradigms. Dr. Fornoni’s vision is one that brings industry, investors and not-for-profit organizations around the table with the intent to match science with innovation and patients’ motivation to find a cure for kidney diseases.

Marva Moxey-Mims, MD

Marva Moxey-Mims, MD is a Professor of Pediatrics at the George Washington School of Medicine and the Chief of the Division of Nephrology at Children’s National Health System in Washington, DC, where her focus is on clinical research to improve the care of children with kidney disease. She was most recently at the National Institute of Diabetes, and Digestive, and Kidney Diseases at the National Institutes of Health in Bethesda, MD, where she served as deputy director for clinical science in the Division of Kidney, Urologic and Hematologic Diseases.

Two of the studies Dr. Moxey-Mims initiated are the ongoing Chronic Kidney Disease in Children (CKiD) study, the largest study of pediatric chronic kidney disease ever conducted in North America, and the Randomized Intervention for Children with Vesicoureteral Reflux (RIVUR) trial, the primary results of which were published in the New England Journal of Medicine.

NephCure Kidney International’s Scientific Advisory Board includes:

• Gerald Appel, MD, PhD
• Daniel C. Cattran, MD
• Friedhelm Hildebrandt, MD
• Lawrence B. Holzman, MD
• Frederick Kaskel, MD, PhD
• Jeffrey B. Kopp, MD
• Matthias Kretzler, MD
• Peter Mundel, MD
• Martin R. Pollak, MD
• Jochen Reiser, MD, PhD
• Andrey S. Shaw, MD
• Karl Tryggvason, MD, PhD
• Roger Wiggins, MB, BChir
• *Michelle P. Winn, MD Posthumous Emeritus

NephCure Kidney International’s mission is to accelerate research for effective treatments for rare forms of Nephrotic Syndrome, and to provide education and support that will improve the lives of those affected by these protein-spilling kidney diseases. Specifically, NephCure is focused on glomerular diseases such as: FSGS, IgA Nephropathy, Minimal Change Disease, Membranous Nephropathy, C3 Glomerulopathy, and Membranoproliferative Glomerulonephritis. NephCure is headquartered in King of Prussia, Pennsylvania. For more information about the organization, visit NephCure.org or call 1-866-637-4287.