Adult FSGS Patient Stories Alice A.January 14, 2016. I will never forget that day. The day the doctor called me to reveal the result of my kidney biopsy, the day I was diagnosed with FSGS. The symptoms started two months earlier... Becky O.I found out that I had kidney disease when I was pregnant with my daughter. I was officially diagnosed with FSGS through biopsy after she was born. I'm stage one, which is a blessing... Bethany E.My daughter was about nine months old when I got sick. I still had the frazzled new mom thing going on, and it took me two days to realize I had swelled up to the point no clothes fit me... Billy K.I'm a 23-year-old male college student whose life has been turned around from kidney failure. I have a needle phobia, and having dialysis three times a week freaks me out every time. But I do it... Brad P.I was training to climb Mt. Ranier. I completed a 14 mile hike on Sunday with a full pack, and was in the ER the following week. I had biopsies and was diagnosed with Minimal Change Disease, and... Briana H.My name is Briana and I’m 39 years old. I was diagnosed with FSGS in 2003, but I started showing signs of the disease during my first pregnancy in 2000. During that time I was young, and [...] Caitlin J.I went in for a physical for summer camp when I was 11, and my protein levels came back high. That was the beginning of my battle with kidney disease. For the next several years, my mom dragged [...] Dawn J.I am 54 years old and have recently been placed on the transplant list. My current GFR is 17, and I have secondary FSGS as a result of only having one kidney (congenital absence). I first [...] Deanna V.My protein was high with my first pregnancy at age 27. After my son was born when I was 28, I was diagnosed with FSGS via biopsy. The years since have included some interesting treatments and [...] Diane W.I was away on a girls' weekend when my ankles swelled and I noticed my clothes were tight. I called my doctor right away when I got home and found myself sitting in a nephrologist's office four [...] Gerald G.I am a 66-year-old white male with no history of kidney disease. I started having swelling in my legs and feet in November 2015. My doctor changed my BP mess, trying to relieve swelling. That [...] Gwen B.I was diagnosed at 25 years old via biopsy. It confirmed FSGS. I had a 4-year-old at that time. I have an 11- and 4-year-old now. The first symptoms were swelling of my hands, feet, and eyes [...] Heather L.After a slow progression of FSGS the last 20 years, my kidneys were finally giving up. After many tests, I was put on the transplant list a year and four months ago, but I didn’t have to wait [...] Kent B.My brother gave me one of his kidneys almost 31 years ago. We have both done very well. I have spent a lifetime taking care of myself, and in turn have been able to keep my kidney without [...] Kimberly S.I have been on a difficult journey for over three years now, but I am a fighter and a survivor. I have had many bad days, and when I think I have hit my lowest of lows, another obstacle is put [...] Laci W.I believe that if it wasn't for my husband Scott, I wouldn't be here today. When I was sick and misdiagnosed for several months, he was my warrior. He kept pushing and fighting for a doctor to [...] LeahMy name is Leah and I’m 31 years old. I started having foamy urine (apparently this was because I had proteinuria) in November 2013. I did not think much of it at first; however, I figured [...] Louis C.At age 14, Louis had just moved to the United States from the island of Mauritius when he was diagnosed with idiopathic FSGS. “I remember my feet being so swollen that I could not fit into my [...] Marcelo P.One fateful day, I fell ill and wasn’t seeming to get any better. My fever was stubbornly high and nausea/vomiting prevented me from eating anything. I remember my mother and I waiting at this [...] Mike C.In spring 2012, during my senior baseball season at Plymouth State University, I was diagnosed with FSGS. This disease abruptly cut my baseball career short, never to see the field again. I went [...] Rachel S.It was May of 2014 when I first knew something was wrong. I was 23, and I was working as an assistant at a busy salon. I drove a really nice car, had lots of friends, and the hardest decision I [...] Tashona M.In 1996, after my first child, I was really tired, couldn't hold anything down, and was running a fever. I thought I had the flu, but after a month of not feeling any better I went to the [...] Tessa B.Doctors discovered I had a kidney problem when I was pregnant with my son at the age of 18. It was a rough pregnancy, and the final diagnosis came with a biopsy six months after I gave birth to [...] Victoria C.I was diagnosed with FSGS after giving birth to my second child. My doctors told me that my GFR was at 45% and that there was no cure. I remember feeling like my life was over. At that point, I [...]
Pediatric FSGS Patient Stories AcaciaIf I were to find a theme woven into the story of my 11-year-old daughter, it would be "the presence of God." Acacia's story always has been, and continues to be, filled with sacred presence [...] Alyssa K.When the bloodwork came back from her 4four-year-old check-up, our pediatrician discovered that Alyssa had high cholesterol. In response, we immediately changed her to a vegetarian... Aurelie V.P.It was my first semester of freshmen year at college, fall 2015. I was away from all of my family and friends. One day, I noticed my feet and ankles were extremely swollen to the point where... Bailey Y.I've been through a lot since I was a baby. I've come a long way with this disease, and yet I'm STILL fighting. I never got to have a normal childhood due to being in hospitals all the time... Brenda E.At the age of two, my daughter Brenda was a happy, chubby, bubbly toddler. She was the light of our lives and nothing could bring her down. One day I got a call from the daycare center saying [...] Charlie B.In August, Charlie woke up with extremely puffy eyes. We thought it was an allergic reaction, and she had a five year check-up that day so we waited until her doctor's appointment to get it... Gina B.It can happen to any child. Gina is an 18-year-old girl who loves Tumblr, drawing and anime, and was in color guard all four years of high school. She was first diagnosed with FSGS when she was [...] Jared G.Jared is a twin and lives with his three brothers, mother and father. He is very strong and determined. He likes playing video games and playing sports. He goes to school, plays for his high [...] Kara Y.Kara was around two and a half years old when she was diagnosed with Nephrotic Syndrome. At first we were told she had Minimal Change Disease and would hopefully outgrow it, but soon a kidney [...] Kennedy R.Kennedy has always been an active child and one would never know that there is anything wrong with her. At the age of 2, we started to potty train Kennedy and she kept having UTIs — she would [...] Lauren H.My name is Lauren and I am nine years old. I was diagnosed in May 2018 with FSGS. The doctors thought it was allergies, but they found protein in my urine, and from there they diagnosed... Lexi H.When I was born, I had a lot of stomach pains. One day when I was three, it got so severe I went right to the hospital. There I was diagnosed with FSGS and started to take many medications. I [...] Madi F.In the spring of 2015, my mom started to notice that I seemed to be a little puffy but didn't think much of it. When summer came, I started waking up with my eyes a little puffy. Over the next [...] Marley M.Marley was diagnosed right before her third birthday — she barely made it out of the hospital for her party — and it was a very scary time. She had retained fluid throughout her entire body [...] Mya S.At age two, my perfect princess was attending daycare and we noticed her swelling up, so I took her to the ER and we got the news that she had Nephrotic Syndrome; we were then admitted to the... Sandesh K.I was 17 years old when I was diagnosed with Nephrotic Syndrome. It was first seen because my eyes were swollen. We went to an eye hospital. After a few days we noticed swelling in my legs, and [...] TeaganTeagan was diagnosed with Nephrotic Syndrome after fighting a virus in early 2014 — she had puffy eyelids at the end of a day in preschool at the age of 3. She was deemed steroid resistant [...]
You Can Change FSGS Treatment Options: EL-PFDD 2020 April 28, 2020 by Kylie Karley Externally led patient-focused drug development (EL-PFDD) meetings bring together patients and care partners, US Food and Drug Administration (FDA) representatives, pharmaceutical companies, and doctors who are experts in the particular disease. The goal is to hear from patients who have the disease, in order for the FDA and pharmaceutical companies to understand the patient experience. This year, NephCure Kidney International and the National Kidney Foundation are coming together to conduct an EL-PFDD meeting, on August 28, 2020, to inform the FDA about the patient’s perspective of living with focal segmental glomerular sclerosis (FSGS). The meeting will be held online. We invite anyone who has FSGS, lives with someone affected by it, or is interested in it to attend this meeting. This year’s EL-PFDD meeting on FSGS will be co-chaired by two NephCure Specialists, Drs. Laura Mariani and Suneel Udani. The two of them answer the following questions regarding the importance of patient attendance at the meeting in August. As a patient with FSGS, why should I consider attending this meeting? EL-PFDD co-chair and NephCure Specialist, Dr. Suneel Udani Because FSGS is rare, most people designing and evaluating the results of clinical trials, that test new medications, have not met anyone with FSGS. While clinicians taking care of patients with FSGS understand the impact the disease has on your lives, this impact is not something that can always be captured on a blood or urine tests, and therefore regulators who determine which medicine becomes available may not recognize the issues that patients face each day. This meeting is your chance to explain not only the impact of the disease, but also the limitations of our current therapies. Each patient’s experience is unique, so hearing from as many different people as possible is incredibly helpful. We encourage you to share not only what you would not only like, but also what you would expect from new treatments in terms of how they are administered, for how long the medication must be taken, the side effects, or anything else you think would be relevant to new treatments. Each segment of the medical community (clinicians, researchers, industry leaders) benefits from hearing your perspective so that the new treatments available truly meet the needs of the intended population—you. The EL-PFDD meeting is a unique setting where all these groups—patients, clinicians, scientists, industry, and regulators—are gathered together to listen. Therefore, your attendance and insight are dependent and vital to this meeting’s success. How does this meeting contribute to putting new medications for FSGS on the pharmacy shelf? EL-PFDD co-chair and NephCure Specialist, Dr. Laura Mariani The comments from the meeting can inform the FDA about the urgent need for new, more effective, and less toxic treatment options for FSGS. The FDA tries to bridge communication between patients and the medical community. The FDA aims to develop criteria that not only represents the effectiveness of therapies, but also determines if these therapies truly help people feel better. In gathering patient feedback, this meeting will help companies design better studies to assess the symptoms most relevant to patients and help the FDA interpret the results of those studies with the patient’s needs in mind. Why does the Food and Drug Administration want to hear from patients? The FDA recognizes that patients and their family members are the experts on what it is like to live with FSGS and to take the currently approved medications. This meeting can help the FDA better understand the impact of the disease and its treatments on patients. As a doctor, why do you believe the EL-PFDD is important? “As a physician, I have been frustrated with the treatment options for Nephrotic Syndrome since I learned what they were, how effective (or not) they are, and the side effects we ask patients to tolerate. However, for the first time in our history, there are more candidates for treatments and studies to investigate their impact. The potential for multiple new therapies has changed my perspective. Whereas in the past our bar for being excited for a new treatment was simply if it made an impact on abnormal lab tests, now we have to raise the bar to not only look at improving laboratory tests, but also how effective a treatment is at helping someone with the disease live better. We can never have that insight without the patient voice. Rather than hearing about patients’ experience after a new medicine has been approved, the EL-PFDD provides an opportunity for patients’ voices to truly shape the narrative and make sure that the approval process includes the perspective of those living with the disease and what is important to them.” -Dr. Suneel Udani “I want to be able to offer patients more effective and less toxic therapies for FSGS. To do that, we need to lower the barriers at every step of the drug development and approval process. Hearing directly from patients is the best way for our partners in this process to understand the urgency of need in this area and to help all of us improve the lives of patients living with FSGS.” – Dr. Laura Mariani To register for this year’s EL-PFDD meeting focusing on FSGS on August 28, 2020, please click here.
FSGS Patient-Focused Drug Development Meeting 2020 The EL-PFDD Meeting on FSGS was a huge success! View the Recorded Meeting Read the Voice of Patient Report Read the Meeting Transcript What are EL-PFDD meetings? Externally led patient-focused drug development (EL-PFDD) meetings bring together patients and care partners, US Food and Drug Administration (FDA) representatives, pharmaceutical companies, and doctors who are experts in the particular disease. The goal is to hear from patients who have the disease, in order for the FDA and pharmaceutical companies to understand the patient experience. The EL-PFDD meeting on FSGS The National Kidney Foundation and NephCure Kidney International conducted an EL-PFDD meeting on FSGS to inform the FDA about the patient perspective of living with this disease. Understanding the patient perspective may help the FDA make informed decisions regarding approvals of potential treatments for FSGS. Voice of the Patient After the meeting, a report titled “Voice of the Patient” was sent to the FDA. This will be a reference for future decisions about potential medicines for FSGS.
The Liposorber Trial for Pediatric Patients with FSGS This study will determine if patients with FSGS can reach partial or full remission as a result of treatment with the LA-15 system. Liposorber LA-15 System is a blood processing system used outside of the body. This device removes certain lipoproteins (LDL/BDL) from the patient’s blood. The Liposorber LA-15 System is used in patients diagnosed with focal segmental glomerulosclerosis (FSGS.) either before transplant, or after a kidney transplant in which there is a recurrence of FSGS. The study is ongoing at pediatric sites. Treatment with this system is conducted at a medical clinic, and each treatment takes approximately 2-3 hours. The system is indicated for up to 12 uses in 9 weeks of treatment (twice weekly for three weeks, then once weekly for six weeks). How To Contact a Study Center: Visit KidneyHealthGateway.com to see if you might be eligible and to contact a study site near you Visit the study website
The Liposorber Trial for Adults with FSGS This study will determine if patients with drug-resistant FSGS will benefit from the LA-15 system. Liposorber LA-15 System is a blood processing system used outside of the body. This device removes certain lipoproteins (LDL/BDL) from the patient’s blood. The Liposorber LA-15 System is used in patients diagnosed with focal segmental glomerulosclerosis (FSGS.) either before transplant, or after a kidney transplant in which there is a recurrence of FSGS. Treatment with this system is conducted at a medical clinic, and each treatment takes approximately 2-3 hours. The system is indicated for up to 12 uses in 9 weeks of treatment (twice weekly for three weeks, then once weekly for six weeks). How To Contact a Study Center: Visit KidneyHealthGateway.com to see if you might be eligible and to contact a study site near you Visit the study website To see more sites beyond KidneyHealthGateway.com, please click here.
Tackling FSGS as a Family: Rocco Murdocca Jr.’s Resilient Fight September 13, 2019 by Kylie Karley 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 15thbirthday, 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 13th. 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 17th, 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.
The Genetic FSGS Discovery Trailblazing Possible Kidney Disease Treatment May 14, 2019 by Kylie Karley 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. “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.