NephCure is proud to announce one of its Scientific Advisory Board members, Dr. Jochen Reiser is the recipient of the 2019 Hero of Medicine Halo Award. This award celebrates scientists for their tireless pursuit of cures and treatments that help people live better lives.

Dr. Reiser will be honored with the award Saturday, October 12, 2019 at the 2^nd Annual Halo Awards celebration at the Museum of Science and Industry in Chicago, IL. For more information about the Halo Awards, please visit www.halocures.com/translation/2019-halo-awards

An avid kayaker, runner, and all-around outdoorsman, Robert Gyurjan is turning his passions into a way to raise awareness about focal segmental glomerulosclerosis (FSGS).  Originally from Debrecen, Hungary, Robert moved to the United States in 2000.

It wasn’t until eight years later that he realized something wasn’t quite right with his health. He was ultimately diagnosed with FSGS at the age of 30. Rather than let the disease take control of his life, he has found a way to use what he loves to raise critical funds to help find a cure; even creating the “R U Kidneying Me?” team.

NephCure: How did you first get involved with NephCure Kidney International?

Robert: I was diagnosed with FSGS in 2008. My proteinuria was somewhat under control for years, then a test at the end of 2017 showed that things might be going downhill. So, I wanted to search for and reach out to other patients looking for doctors and resources. A Google search led me to NephCure and I was hooked from there on out!

What are some goals you are setting for yourself?

I started fundraising for NephCure last year and I’m continuing my efforts this year. While the obvious goal is to raise more money each year, I have realized that raising awareness is just as important. I’m trying to reach more people and educate them on FSGS through various type of marketing tools such as social media and newspaper articles. I was even able to put up a billboard encouraging folks to donate to my team “R U Kidneying Me?”

What are some of your successes to date?

In 2018, I was able to raise a little over $4,200. This year, as part of Countdown to Cure in Boston and a New England champion, I have been able to raise about $3,500 so far; those numbers are increasing as you read this!

Are there any challenges you have faced?

Since I use the Josh Billings Triathlon as a ‘vehicle’ for my fundraising efforts, there is always a personal challenge to complete this 27-mile bike, 5-mile kayak and 6-mile run competition. Last year I did all three myself, but this year I was a kayaker as part of a team. On the other hand, while the local hospital has a great nephrology department, it seems like there is never enough doctors and having a difficult time with replacements.

Why is it so important for you to get involved with NephCure and our mission?

Most of the volunteers are either related to patients or patients themselves. There is nothing more driven, dedicated than a heart of a volunteer. I have only met/talked with a handful of NephCure friends, but I have always felt a special connection from the first minute I got involved with them. Whether it was discussing a project or talk about the disease, it is truly like a big family.

Is there anything else you’d like to mention?

With some much-appreciated help, I have created my own promo and team name, “R U Kidneying Me?”, with a weblink www.TeamRUK.comthat is linked to my NephCure fundraising page for easy access. I am also a single father of a wonderful 10-year-old son, Sammy. Hockey and baseball are his passions!

This past weekend kicked off NephCure’s successful ‘fundraising season’ with two first-year events, Rocky Mountain Pig Jig and Philadelphia Countdown to a Cure, as well as an outstanding New York Walk. Combined, the three events raised roughly $115,000to support our mission of finding better care and new treatments for those battling rare protein-spilling kidney diseases, like Nephrotic Syndrome.

On Thursday, September 19, the Inn at Villanova in Wayne, PA transformed into the 2019 Philadelphia Countdown to a Cure. The tables were set, auction items displayed, and dinner was served. Over 80 guests showed up to the evening dedicated to funding research and finding a cure for our community battling rare kidney diseases.

“This is the first time we’re honoring those specifically in the medical field, I think that’s very special,” Deb Pollock, NephCure’s National Director of Advancement said. “It was heartwarming to see how involved and invested each physician, researcher, and medical professional, who attended Countdown, was.”

One of NephCure’s original co-founders, Lou Antosh, proudly took to the podium to explain the history and significance the organization plays in patients and physician’s worlds alike. He went into great detail, making sure the crowd thoroughly understood the dedication and work Dr. Lawrence Holzman, the 2019 Philadelphia Countdown to a Cure Honoree, has put into figuring out what exactly the disease is.

Just days after, on September 21^st, over 1,700 miles away in Colorado Springs, CO, another first-year event was underway: the Rocky Mountain Pig Jig. A simply beautiful afternoon to invite hundreds of people out for the day comprised of live music, dancing, games, prizes, and a BBQ competition.

“From the moment you stepped foot into the parking lot, the overwhelming and delicious smells from the BBQs surrounded you. I was there at 8am and even then, I thought ‘Wow, I’m already hungry!’” Pollock recalled.

With the BBQ smell wafting throughout UCHealth Park, the live music billowed throughout the stadium. Several bounce houses, cornhole boards, and craft tables resembled paradise for the children at Rocky Mountain Pig Jig. While their parents lingered around their version of paradise– the beer garden.

The event not only welcomed those from Colorado Springs, but also those from neighboring states and even across the country.

Meanwhile in New York, on the very same day, nine teams helped raise more than $40,000 for our organization at the region’s walk held in East Meadow, NY. Dozens of volunteers, patients,and their families rallied together to share their personal stories and walk side by side for a cause that affects their loved ones.

Our regional leader, Marlene Botta, accepted an Emerging Leader Award from the New York State Assembly on the behalf of her daughter, Jackie. Marlene and other NY Walk committee members put in an immense amount of work to organize a fantastic event for those affected by rare kidney diseases.

The combined $115,000 raised for NephCure’s mission of finding better care and new treatments for those battling rare forms of kidney disease could not have come at a more crucial time. After decades of work, the hope of new therapies is now very near. We have the rare opportunity to bring the first treatments ever for Nephrotic Syndrome into the hands of patients in the next several years. Thank you for all who attended the 2019 Philadelphia Countdown to a Cure, Rocky Mountain Pig Jig, and New York Walk. Upcoming NephCure events include Silicon Valley Pig Jig and New Jersey Countdown to a Cure, to find more events in your area visit give.nephcure.org.

Just like any typical 14-year-old boy, Rocco Murdocca was growing and changing. On the outside, nothing set him apart or caused alarm for illness.

The changes were normal, gradual, and slight enough that as an outsider, you wouldn’t be able to tell the difference. In fact, his parents, Julia and Rocco Sr., had a hard time realizing anything was wrong. The only sign that sparked concern was his weight gain.

“Over the course of a year, he gained almost thirty pounds! I thought he was getting fat and made him join the gym. He kept saying, ‘Ma, everyone at the gym says my legs are jacked.’ But they weren’t muscular, they were just building up with fluid,” Julia explained.

Confusion engulfed the Murdocca family, as they tried to piece together what could possibly be happening to Rocco’s body.  “There were a lot of signs that were there, but we just never knew,” she recalled.

After a counterproductive trip to urgent care, Julia instinctively knew her son needed to see another doctor. Rocco’s pediatrician was the first to notice the spilling protein.

“The pediatrician then told us to go to the emergency room and that’s where they told us he has Nephrotic Syndrome,” Julia said.

During his stay 4 day stay in the hospital Rocco received several rounds of albumin infusions to improve his renal function. Over that short time, he lost the thirty pounds he had gained over the previous twelve months.

Just shy of his 15^thbirthday, Rocco was initially given a rigorous course of steroids, but Julia demanded he receive a biopsy. It was that biopsy that confirmed their fear: focal segmental glomerulosclerosis (FSGS).

“I felt like I was in a dream. We all thought, we have a diagnosis, he’s going to take medicine, it’s going to get better. This happens to other people, this doesn’t happen to us,” Rocco’s mother said.

To their dismay, the steroids did not work, and Rocco was then given a concoction of alternative second line drugs.

“They did more damage than help for him. He wasn’t responding to any medication,” Julia noted.

Almost immediately after Rocco’s diagnosis, she saw a shift in her family. Rocco Sr. and her three older daughters kept their emotions, thoughts, and words to themselves.

“We were all just numb. We were afraid to discuss our feelings. My children were afraid to come to me and say, ‘I had a bad day.’ It was weird,” Julia said.

Despite the abounding hospital visits, medication, and side effects, she came to understand the importance of not allowing the disease take control of her and her family’s life.

“Don’t focus on the disease. You have to focus on your whole family because when you neglect other members of the family, that’s when you start to fall apart. That’s when you let the disease control your life,” Julia advised.

“Pay extra attention to the other children in your family that are healthy because although what they’re going through is not as serious as your child who is affected, what they’re going through is just as important.”

In the beginning of 2019, Rocco’s kidneys rapidly declined, losing nearly 90% of their function. This propelled him into dialysis only a month later, with a kidney transplant on the horizon.

Ultimately, Julia and Rocco Sr. made the decision to delay the transplant so that their son could enjoy his senior year of high school to the fullest.

“He wanted to go to prom, he wanted to go to on his senior trip, and graduate. So, we did dialysis until he graduated high school in June,” Julia noted.

In the meantime, both parents were tested and ended up being a donor match for Rocco. With Rocco Sr. being a stronger match, he agreed to give one of his kidneys to his son. And so, the preparation began. First came Rocco’s double nephrectomy on July 5, 2019.

The transplantation date was scheduled for just over a month later, on August 13^th. Julia and her family remained steadfast, mentally preparing for the transplant without letting it consume their entire world.

As the transplantation date arrived, Rocco and Rocco Sr. courageously took on the disease together. Unfortunately, just four days after receiving his father’s kidney, it was confirmed Rocco’s FSGS came back. “We were absolutely devasted,” Julia declared.

Since August 17^th, Rocco has been undergoing plasmapheresis and rituximab infusions in hopes of achieving remission.

“My son is resilient; I wish I had half of the strength that he has,” Julia expressed.

The Murdocca’s focus now remains on bringing Rocco back to full health.

Although, Rocco currently has a lot of unknowns, one thing he’s certain about is his love of all thing’s music. While he’s not positive where he’ll go to college, he knows his passion for playing instruments and songwriting will drive him to great success.

With a diverse background in medicine, our new Director of Clinical Outreach, Kristen Hood, will bring more to NephCure Kidney International than just her 15 years of nursing knowledge. Kristen is a mother, and her 10-year-old son, Logan, was diagnosed with Nephrotic Syndrome back in 2016.  

Kristen’s unique personal and professional experience with these glomerular diseases gives her invaluable insight on how to engage, educate, and mobilize patients into clinical trials through KidneyHealthGateway.com.

If her name sounds familiar, it’s because Kristen has been an active volunteer for NephCure for over 3 years! Learn more about her and her family’s story and see what she’s looking forward to during her time with our organization.

As the Director of Clinical Outreach, what does your role consist of at NephCure?

Professionally, I have been a nurse for over 15 years. In my position with NephCure, I will be using my nursing and medical knowledge to engage, educate, and mobilize patients into clinical trials through Kidney Health Gateway.

Can you tell us a little about your family’s story and how you became involved with NephCure in the first place?

Our son Logan was diagnosed with Nephrotic Syndrome in July 2016.  He had been ill for several months. He had 2 misdiagnoses, then while on vacation became acutely ill and was rushed to ER.

When we received Logan’s diagnosis, we began scouring the internet for information and support. NephCure was the first website that popped up. I recall while registering on the NephCure website, a friend from college reached out and asked if she could share my information with a mom who had a daughter with a similar diagnosis. Turns out, she was referring to NephCure’s own Kelly Helm! NephCure and Kelly Helm provided more support and education to our family than we ever imagined.

How has the shift from volunteer to full-time employee been for you?

This shift from volunteer to full-time employee has been great! I have been an active volunteer with NephCure for 3 years, so I have gotten to know quite a few of the staff through different events: Advocacy Day, CDTAC, NLS, walks, etc.

Transitioning to an employee, the staff have been very welcoming and seem excited for their new team member! I feel blessed to work with the most amazing people. You can tell that everyone who works at NephCure truly believes in and works toward the mission and goals of the organization.

What are you most looking forward to in your position?

I am really looking forward to learning about our patients that have registered into KidneyHealthGateway.com. I look forward to finding out what they need and how I can help them make the decision to enter one of the listed clinical trials. I want my work to be purposeful and meaningful by bringing about better treatments, which eventually will be accessible to all.

What do you hope to share with others during your time at NephCure?

What I hope to share with others is the power and promise we have at our fingertips for better treatments, and possibly a cure, through Kidney Health Gateway clinical trials. I hope to educate and empower our patients and patient families to reach out and participate in a clinical trial. Our patients and families hold the promise for a better future…and I want them to know how important and appreciated they are, as well as supported.

How has NephCure impacted you and your family?

As a patient family, NephCure has given our family the opportunity to move away from a devastating diagnosis and the looming unknown of Logan’s future. NephCure gave us an opportunity to actively change our focus through advocacy and volunteerism.

We did not want to sit around and wait to see what would happen next…rather, NephCure gave us active ways to promote hope, positivity, and contribute to a better future for Logan and others like him.  With NephCure’s help, we turned Logan’s devastating diagnosis into purposeful action for a better and brighter future.

Why is now so important for individuals to get involved with NephCure and clinical trials, specifically?

We have, at our fingertips, the world’s most renowned and respected nephrologists and researchers, working hard to find better treatments—and maybe a cure! —to these rare protein-spilling diseases that affect the patients and caregivers of the NephCure community.

We have met with the top members of the FDA; we have leveraged our weight on behalf of the research and clinical trials for our patients and families. We now need them to engage and participate. The future of new medications, better treatments, and better quality of life is in their hands.

What is some advice you would give to parents of a recently diagnosed child?

My best advice is to take everything one day at a time. When faced with a devastating diagnosis or situation, it is easy for us to constantly be looking ahead into the unknown. We know there will be inevitable challenges, but I would caution looking too far ahead.

Keep perspective to a smaller scale and initially, just get through the days, one by one. I would also encourage parents to not forget to take care of themselves, physically and mentally. Take daily walks outside, pray, meditate, and eat healthy. You must take care of yourself too.

When you’re not at work, what can you usually be found doing?

My family loves traveling, fishing, camping, and playing sports. All of our kids play sports, so their athletic schedules keep us very busy! I am also in a doctorate program, so I am very busy with my own schoolwork!

 

Born an identical twin, Josie Dolena’s allergies set her apart from her sister, Violet, at a very young age. While both girls were originally born with dairy allergies, Violet outgrew hers as a toddler; Josie’s lingered.

Their parents, Heather and John, grew to know Josie as their sensitive child; not in the way of her feelings, but rather her sensitive immune system.

Because Josie was prone to reacting to certain foods and products, Heather acted quickly the moment she noticed changes to the then 4-year-old’s appearance.

“[Josie] woke up one morning to go to preschool and her older sister and I noticed that the one side of her face, especially her eye area, was pretty puffy,” Heather recalled.

“If it were one of my other daughters, I probably would have let it go and just kind of kept an eye on it, but my husband and I thought it was odd since it was the first thing in the morning and she hadn’t eaten anything yet to react like that.”

The couple, who both have medical backgrounds, couldn’t figure out a reasoning for the reaction and ultimately decided to take her to the doctor.

By the time the Dolena’s got to the pediatrician, Josie’s swelling went down. Her seemingly ‘normal’ physical appearance stumped her pediatrician, who requested a urine sample as a precaution.

But the swelling came back the next morning with a vengeance and getting the urine sample was next to impossible. That’s when Heather instinctively knew something was not right with her daughter.

“I kept giving her water and lemonade, it took multiple cups to get her to be able to go,” Heather said.

After numerous tests, the lab work results confirmed the worst: Josie had Nephrotic Syndrome.

The suggested treatment plan started with high dose prednisone for roughly six months, but being a child and adolescence psychiatrist, John was very hesitant about his daughter undergoing such strong medication. He has seen first-hand the mental and physical effects prednisone has on young children.

After meeting one-on-one with Josie’s doctor, John reluctantly decided to go forward with the steroids, as there is no other option available to those with Nephrotic Syndrome or other protein-spilling kidney diseases.

They were pleased when Josie’s protein spillage levels considerably dropped within just days of starting the medication.

“The biggest challenge through all these years has always been the prednisone. The nephrologist said, ‘there’s going to be side effects, it’s a tough drug to take.’ I’m a nurse, I knew it was going to be a tough drug to take, but I was not prepared for daily life with prednisone and how it affects everything, every day, all day long. We’re blessed that she reacts to it, but the side effects are just brutal. It’s a double-edged sword,” Heather explained.

After her first round of prednisone, Josie went into remission and stayed in it for 15 months.

“We were thinking maybe she’ll be one of those kids who only has the initial flare up and they never relapse again. I knew it was a small number, but we were almost getting to that,” Heather expressed.

Unfortunately, that hope quickly vanished as Josie experienced her first relapse after eating something that contained and/or touched dairy. She was quickly put back on prednisone again.

“Mentally the prednisone was tough on her. When she was very young, she would say ‘I feel sad and I don’t know why.’ She’d say, ‘I’m worried I’m going to have to start taking thatmedicine again,’” Heather remembered.

Amid the side effects, Josie responded quickly to prednisone. But just as she was weaned off, she started spilling about a month later. That’s when the brigade of relapses began.

“There was a period of time, for about 8 to 12 months, where she just would come off [prednisone] and within 4 to 8 weeks would relapse again. So, we got to the point, with the third relapse, where we started talking about moving to a second line drug,” Heather said.

After her eigth relapse, the Dolena’s added Cytoxan into Josie’s treatment plan. Finally, after some scares during the bad flu season, the now nearly 11-year-old is in remission!

“We’re at about 18 months now. We’re kind of coming up on the period where it seems like the last few relapses happened— that 15 to 22-month mark. I’m hoping to just keep going,” Heather said.

Although Josie is doing well at the moment, Heather knows the drug will cause anxieties to linger, “she associates any medicine with what prednisone has done to her and she tries to avoid medicine at all costs.”

The disease also causes anxieties to surface for Heather as well.

“I wonder, are we trying to make things as normal as they can be for her? I don’t want her to focus on the illness, I don’t want that to define her. I tend to overthink as a parent,” she said.

Turning to dance and swim as physical outlets, Josie recently competed in the county championship for butterfly stroke. As far as Heather and John’s outlets go, they turn to NephCure.

 

“You’re not alone,” Heather confirmed. She encourages other parents going through the same thing to, “Talk to other parents. Chances are there’s a ton of them that have a ton of experience going through what you are.”

Heather recently became the Patient and Engagement Volunteer Lead for the Pennsylvania and New Jersey region. She hopes to help as many of those affected by Nephrotic Syndrome as she can, making it her mission to remind them to seek treatment from a specialist, as well as get a second opinion.

“With the new patients I come in contact with I try to tell them to make sure they’re seeing a NephCure Specialist. A lot of nephrologists aren’t necessarily a specialist. I refer them to KidneyHealthGateway.com. There might be clinical trials that they’re eligible for,” she advises.

Three years ago, everything changed for Dawn and Steve Patafie. In 2016, their daughter, Peyton, was diagnosed with Nephrotic Syndrome.

“The doctors told us that her condition was extremely rare,” Dawn recalled.

Peyton responded to steroids on the first try, which ultimately put her into remission for a year and a half.

“At that time, I thought Nephrotic Syndrome was a thing of our past. I never imagine it could slip back into our lives,” Dawn mentioned.

But unfortunately, the Patafie’s nightmare came to life and in February 2018, Peyton experienced her first relapse. Afterwards, she was on and off steroids for over a year.

“It was during those countless relapses that I started to feel helpless. One night when I was unable to sleep, I came across a Facebook group for parents who have children with Nephrotic Syndrome. It was through this group that I learned about NephCure,” Dawn said.

Peyton’s condition is now managed with cyclosporine.

“My daughter was extremely lucky to respond to steroids,” Dawn acknowledged.

Dawn and her husband, Steve, turned their helplessness into a plan of action. The two are now giving back in a big way, dedicating their time and energy to the fight against kidney disease.

Since Peyton and her brother, Rocky, both enjoy playing soccer, the Patafie’s put together the North West Arkansas (NWAR) NephCure Soccer Club. The team of young kidney warriors participate in local soccer tournaments to raise awareness and critical funds for NephCure Kidney International.

“We put the NephCure team together so the kids could continue to play [soccer] in the summer with their friends, while spreading awareness about Nephrotic Syndrome. It seemed like a great way to have the kids involved in raising awareness while doing something they love as well. We educated everyone that joined about NephCure and explained to them why the organization was important to us,” Dawn said.

Her husband Steve added, “It was an awesome feeling listening to 6 and 7-year-olds cheer ‘Go Team NephCure,’ on the sidelines. The kids and parents were all extremely supportive of our cause.”

In addition to managing the NWAR NephCure Soccer Club, Dawn is Arkansas’ patient engagement lead for other parents whose children have a similar diagnosis. That responsibility came along with the opportunity to attend NephCure’s Leadership Summit this past March.

“Since attending the Leadership Summit, I no longer feel alone as we deal with Peyton’s Nephrotic Syndrome. Meeting other parents that are going through the same things with their children was so comforting. I now have a network of people to reach out to that I didn’t even know existed,” she said.

Dawn is also the founder of a Facebook group called ‘Arkansas Parents of Children with Nephrotic Syndrome’ where she establishes a local support system. She even met up with two of the moms in the group this summer.

“We had a blast having our daughters meet. Both moms told me that my daughter was the first person that their child has met that also has Nephrotic Syndrome. This is also the case for my daughter,” Dawn mentioned.

On top of the NWAR soccer team and the NephCure leadership role, Dawn and her family is hoping to start a new NephCure walk in Northwest Arkansas in the spring of 2020.

“I hope that the Nephrotic Syndrome families leave our event feeling a sense of support and community that they may have not realized was around. I hope to spread awareness in our area to people that have never heard of the disease or NephCure before,” Dawn said.

The Patafie’s selflessness incredibly enough doesn’t stop there, they are also NephCure Champions. The program is part of our network of grassroots community fundraisers, who fundraise locally and virtually to help support NephCure’s mission of finding better treatments for protein spilling kidney diseases. You can find their web page at give.nephcure.org/Champions.

Many thanks to Dawn, Steve, Peyton, and Rocky Patafie for their tireless efforts in support of our community.

The objective of our 2019 Clinical Trial Collaborative Meeting was to push treatments for rare, protein-spilling kidney diseases forward.

 

In an effort to find these new potential treatments, approximately 100 of the world’s top glomerular kidney disease researchers, doctors, US government officials, international representatives, patient advocates, and pharmaceutical companies met on June 26, 2019 in Washington, D.C.

 

To kick off the day, a panel of adult patients and patient parents sat in front of industry leaders and succinctly explained their frustrations with the lack of a standard of care, including more children in clinical trials, etc. (These excellent panelists ended their session with a standing ovation from the crowd, by the way)!!

 

We took a look at KidneyHealthGateway.com and other clinical trial education and awareness efforts of ours, and then separated our six work groups into breakout sessions where they discussed the impact and timeline of deliverables to come up with a realistic approach on how to implement these changes; ultimately help recruit for clinical trials.

 

In the afternoon, a panel of international experts informed the audience on how we can build global collaboration outside of the United States. Panelists traveled from as far as the United Kingdom, Italy, France, and Germany.

We concluded the day by devoting time for each of the 6 work groups to present their innovative ideas and encouraged conversation and questions amongst the room to make these deliverables even more focused and implementable.

 

A successful meeting on all accounts; June 26th left many attendees very optimistic and motivated to continue their efforts to increase participation in clinical trials while ultimately helping find new treatments for Nephrotic Syndrome, FSGS, IgAN, and other rare kidney diseases.

 

To keep the patient experience front and center during our Clinical Trial Collaborative Meeting, we wanted patients and their families from across the globe to have the ability to explain their frustrations and let drug makers, researchers, and the FDA know why steroids are simply no longer an option.

 

This video is the compilation of the anecdotes and messages our community responded with, which was played throughout the entire meeting.

A livestream of the entire day can also be found here.