NephCure Kidney International ®
Saving Kidneys, Saving Lives
NephCure’s Nurse Kristen Hood and Kylie Winkler discuss Travere’s Therapeutics achievement of interim proteinuria endpoint in the ongoing Phase 3 DUPLEX study of Sparsentan in Focal Segmental Glomerulosclerosis (FSGS).
Learn more about the trial currently underway, why this is such a crucial step for patients with rare kidney diseases, and what potential treatments this could lead to in just a few short years! Read the full press release here.
Super Bowl Turkey Chili (Low-Sodium)
Prep Time: 30 minutes
Cook time: 2 hours
Serves: 4
Ingredients:
Instructions:
Nutrition Facts:
We encourage you to talk with your doctor regarding what diet and nutritional guide is best for you to follow.
NephCure Specialist, Dr. Rasheed Gbadegesin, MD, MBBS, responds to our questions regarding genetic testing. Dr. Gbadegesin is a pediatric nephrologist at Duke University Medical Center. He is also a professor of pediatrics and professor in medicine, focusing his studies on molecular genetics of glomerular disease and genetic risk factors for childhood onset idiopathic Nephrotic Syndrome.
Dr. Rasheed Gbadegesin, MD, MBBS
Nephrotic Syndrome and other rare kidney diseases are common causes of human suffering in the United States and all over the world. Nephrotic Syndrome is seen in all age groups, but it is more common in children. Nephrotic Syndrome is divided into steroid sensitive nephrotic syndrome (SSNS) and steroid resistant nephrotic syndrome (SRNS) based on response to steroid treatment. Most patients with SSNS will have excellent outcomes, while those with SRNS who are also unresponsive to other treatments may develop progressive kidney damage that will ultimately require dialysis and kidney transplantation.
The cause of Nephrotic Syndrome and other kidney diseases is unknown in majority of cases. However, with the mapping of the Human Genetic Code and the development of tools to read the codes, we are now learning more about the potential causes of Nephrotic Syndrome and other kidney diseases.
Using Nephrotic Syndrome as an example, we now know that a significant proportion of SRNS type are due to defects in one of 70 genes. A study from Columbia University, and other studies from the US, Canada, and Europe, showed that up to 10% of kidney disease patients with kidney disease of unknown cause have defects in one of these 70 genes and other kidney diseases genes. In addition, some genetic factors have been associated with high risk of developing kidney disease, a very good example is the association between variants in the APOL1 gene and high risk of kidney diseases in people of African ancestry.
These findings are very exciting and will most likely lead to early and accurate diagnosis of different kidney diseases. They may also facilitate the identification of other diseases that may be associated with genetic kidney diseases, for example, hearing loss in people with defects in COL4A5 genes and early onset diabetes in patients with HNF1B gene defects.
The simple answer is that genetic testing should be offered to those who are suspected of having genetic kidney disease, and testing should be done as soon as the diagnosis is made. For example, patients with steroid resistant nephrotic syndrome (SRNS), especially if it is associated with a history of kidney diseases in other family members, should undergo appropriate genetic testing without any delay. This approach is very important because early diagnosis of genetic SRNS will facilitate 1) tailored use of medications to reduce side effects and toxicity, 2) use of appropriate medications that are directed towards the specific genetic defect, 3) precise discussion with patients and family members on what to expect short and long term, 4) putting in place measures to prevent or slow rate of kidney damage, and 5) safe planning and timing of kidney transplantation if needed.
In conclusion, genetic testing should be widely available to patients with suspected genetic kidney disease. The genetic data should be discussed with family members and experts in genetic kidney disease for accurate interpretation of results. The information from the genetic testing should be studied carefully to improve the short- and long-term outcome for the patient and other family members.
If you would like to learn more about genetic testing, talk to your nephrologist and ask about the steps necessary to obtain approval from your insurance. It is important to also seek genetic counseling once the genetic testing comes back. If you are having trouble getting genetic testing approved through your insurance or your doctor is not keen on obtaining these tests, click here to learn more about obtaining your genetic testing for free through various studies or organizations.
Do you or your loved one suffer from Membranous Nephropathy? We are here for you.
Membranous Nephropathy (MN) is a rare kidney disease characterized by thickening in the part of the kidney that filters blood: the glomerular basement membrane. The thicker membrane does not work normally and causes protein that belongs in the blood to be spilled into the urine.
Symptoms of Membranous Nephropathy include:
Below are resources we’ve complied that might be useful for you:
This double-sided informational flyer on Membranous Nephropathy breaks down the basics and helps you better understand the journey you may face. It also highlights was to treat your disease and how to live with it. To download the full informational sheet, click here.
In September 2020, we hosted a NephCure U session specifically on Membranous Nephropathy. Dr. J. Ashley Jefferson from the University of Washington lead, “Membranous Nephropathy and You,” and discussed more on the diagnosis, treatment options, and clinical trials. Listen in on the hour-long educational webinar below.
Later this year, on August 27, 2021 from 10am-3pm ET, NephCure and the National Kidney Foundation will host an Externally Led Patient-Focused Drug Development (EL-PFDD) meeting specifically on Membranous Nephropathy. What are EL-PFDD meetings? They 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. You participation is critical. Last year, we hosted an EL-PFDD about focal segmental glomerulosclerosis (FSGS). To watch the recording, click here. Please keep a look out for more information on this meeting as it becomes available. Until then, if you have any questions, please reach out to Kelly Helm at khelm@nephcure.org.
In addition to these resources, there are also clinical trials available for Membranous Nephropathy patients. These trials are the only way scientists will be able to find a new, potential treatment options specifically for Membranous Nephropathy patients. Patients, like you and your loved ones, play an extremely crucial role. Check out some pre-screener questions below, provided by MorphoSys, a pharmaceutical company leading one of these MN studies, to see if their clinical trial, M-PLACE, could be a fit for you or your loved one.
To learn more about MorphoSys’ clinical trial, click here. If you meet the criteria listed above, find the location closest to you and click the “I’m Interested” button to get in touch with an investigator.
You can find a full list of clinical trials for all protein-spilling kidney diseases on KidneyHealthGateway.com.
A new educational resource is available for FSGS patients worldwide. We are proud to collaborate with WebMD/Medscape to make focal segmental glomerulosclerosis (FSGS) available as a program on the WebMD website. You can check out the brand-new information here.
Within this program, you can test your FSGS knowledge, learn more about the causes of the rare protein-spilling kidney diseases, and find out about the treatment options that are available—including a deeper dive into clinical trials.
This resource also includes a video from NephCure Board Member and NephCure Specialist, Dr. Kirk Campbell. He shares his expertise on the treatment options for those suffering from FSGS and breaks down the importance of enrolling in a clinical trial.
We encourage you to take a look at this program on WebMD and share with family and friends to help shed light on you or your loved one’s medical condition.
This program was supported by an independent educational grant from Travere Therapeutics. To learn even more about FSGS and treatment options, click here.
Written by Linda Lujan.
This year, my confidence and health were greatly challenged as I faced the reality of learning that I developed a serious, potentially life-threatening disease and tested positive for COVID-19 in the same ER visit. Though I did not receive my diagnosis of Minimal Change Disease until June 24, 2020, my journey started many months prior.
That’s where I’ll start my story of “Welcome to 2020.”
After a flight to Texas during the week of Christmas 2019, I noticed my ankles were swollen. I thought it was due to the long flight, and I tried to relieve the swelling by elevating my legs and wearing compression socks during my weeklong stay, which helped relieve the swelling to some degree. Upon my return to Oregon, the swelling eventually resolved.
As 2020 began, I was off to a great start. I was healthy and training for a half-marathon, my nutrition was on point, I was not taking any medication, and I had no underlying health conditions.
Things began to change just a few weeks later.
From mid-January through early March, I started gaining weight for no apparent reason. I gained a pound or so a week and couldn’t figure out why. In late February, I noticed that my legs were swollen. I started paying more attention, and though the swelling wasn’t improving, instead of thinking I had a medical issue, I thought it was related to my exercise routine. At this point, I was cycling 100+ miles every week!
In mid to late March, my weight was still climbing a pound at a time, and the swelling in my legs was still prevalent. I saw my family doctor, who also thought it was related to my exercise and prescribed a diuretic. A week later there was no change, so I returned to the doctor. After seeing my albumin level in my lab results, he asked me to increase my protein intake by 20%. Within a week the swelling in my legs mostly resolved, but then my abdomen started swelling.
On March 30, after a long weekend of considerable discomfort in my stomach from extreme swelling and now severe fatigue, I once again went to see my doctor. He wanted a CT scan of my belly, but because insurance was going to take three to five days to approve it, he sent me to the emergency room.
There, a scan was taken of my abdomen and lungs. The ER doctor indicated that he believed I had Nephrotic Syndrome and had consulted with a nephrologist in Portland who asked that I be transferred to a hospital there.
But there was one problem! The scan of my lungs revealed what was described as glass shards, which the doctor believed was an indicator I was positive for COVID-19. The doctor in Portland began working on getting me into a hospital — but special conditions were needed for my admission because he believed I was positive for COVID-19.
I was transported by ambulance to Meridian Park Hospital in Portland. Upon arrival, I was taken straight to a room, bypassing what I assume would be normal procedure for a transfer. It felt a bit chaotic and I was definitely scared. My husband wasn’t allowed to be with me and would not be allowed to come see me.
After getting settled into a room, I was put on a diuretic through IV. By the next day, I was feeling much better with respect to the pressure in my abdomen. That morning, the doctor confirmed my Nephrotic Syndrome diagnosis.
He said I needed a kidney biopsy to determine what specific kidney disease I had, and he also wanted an ultrasound; however, the hospital declined both orders due to coronavirus restrictions. A 24-hour urine catch was ordered, which revealed a high level of protein. The COVID-19 test came back that day as well — with a positive result.
I was in the hospital for four days in a particular area that was set aside for COVID patients. At that time, there were eight patients suspected of having the virus, but I was the only confirmed positive case. What should have been a routine hospital stay (if there is such a thing) was complicated by my COVID diagnosis. I later learned from my doctor that, because he believed I had contracted COVID before it was confirmed, he fought for extreme measures for my care in addition to the coronavirus protocol the hospital already had in place.
The safety protocols he asked to be implemented for my care included only one hospital doctor assigned to me, one nurse per shift allowed in my room, and meals delivered only as far as the door. Everything that came in my room was disposable, and nothing left my room. The extreme end of this caution was that during the 24-hour urine catch, I was asked to measure the urine, transfer it to a larger bag on ice, and document the measurements. I was way too sick to be managing such a task.
Upon discharge from the hospital, my nephrologist informed me that I would not be able to get the biopsy until I tested negative for COVID, and, once he knew my diagnosis, treatment would not begin until I had a second consecutive negative test. Unfortunately, over the next seven weeks, I continued to test positive.
The time period between my discharge from the hospital with a general diagnosis of Nephrotic Syndrome and starting treatment for it was about 12 weeks. It was a long 12 weeks!
Emotionally, I was scared to death because I didn’t know what was wrong with me. The only thing I could do during that time was to research Nephrotic Syndrome — because that’s all I knew was wrong with me.
This time period was stressful and emotionally challenging. I faced the reality that I had a kidney disease, but that I didn’t yet know which disease, how much damage (if any) my kidneys had suffered, and what long-term effects could result. I was concerned things would get worse as I continued to wait for a negative COVID-19 test.
I finally tested negative and was able to get my biopsy in early June. On June 24, I received a diagnosis of Minimal Change Disease and started treatment of 60 mg of prednisone. My first lab results four weeks from that date revealed I was in remission, so I started to quickly taper off the prednisone.
After I was released from the hospital, the nurse at the kidney center kept telling me that my doctor was fascinated by my case. I asked the PA about this, and he told me the doctor believed I had contracted COVID in late fall 2019 and that it had started attacking my kidneys when the first swelling presented in late December — causing my Minimal Change Disease.
Furthermore, the doctor believed I was one of the first cases of such a diagnosis to be caused by COVID-19, and therefore a case for medical journals. At my diagnosis appointment, he told me he’d discussed my case with peers worldwide, and they were all of the belief that I was the first case in the U.S. to have had the coronavirus lead to Nephrotic Syndrome without having any underlying conditions. At the time of the kidney biopsy, my doctor asked the pathologist for an analysis for COVID to give insight to this theory, but the pathologist could not confirm it.
During the same appointment, he told me he was participating in a COVID/kidney case study and that he was presenting my case for it; that case study has since been published.
Throughout this whirlwind year, NephCure has been amazing. When I received the initial diagnosis, I researched Nephrotic Syndrome a million and one ways. I kept changing my search words and finally came across NephCure’s Facebook group.
I posted that I had a Nephrotic Syndrome diagnosis but had to wait on a biopsy because of COVID-19; a patient advocate for NephCure replied to my post and we talked on the phone a few days later. She gave me so much information and put me in contact with Kelly Helm, NephCure’s assistant director of patient advocacy.
I then learned about the bi-monthly peer-to-peer video calls and started participating in them — I learned so much from the other participants on those calls, as well as from Nurse Kristen! One participant reached out to me via private message and gave me so much helpful information.
Kelly kept in contact with me, and was also very supportive and responsive to my questions and/or concerns. I truly appreciated the support group and Facebook page, and the opportunity NephCure gave me to hear from people who shared similar challenges.
Today, I am healthy, medicine-free, and have been back to my regular exercise routine since early September! I pray every day I stay in remission.
Aishlyn Case looks like any healthy 10-year-old, with a full face, long brown hair, and a big, beaming smile complemented by a dimple on each cheek. She acts like any healthy 10-year-old, swimming in the pool in her backyard, binge-watching her new favorite show, and attending virtual fifth grade, where her favorite subject (right now) is science.
But Aishlyn Case is not any healthy 10-year-old. And most people would never be able to guess why.
Tammy Case, Aishlyn’s mother, couldn’t guess why. No warning signs or strange symptoms made an appearance until she took Aishlyn and her two sisters shoe shopping in February, and Aishlyn couldn’t fit into a pair of shoes. It wasn’t because she simply needed a larger size — Aishlyn’s feet were swollen. After further inspection at home, Tammy realized the swelling went all the way up both of her daughter’s legs.
They rushed to the emergency room, and later that day doctors recognized the severity of Aishlyn’s condition. Before they knew it, Tammy and Aishlyn were whisked away in an ambulance, heading straight for Le Bonheur’s Children’s Hospital in Memphis, Tennessee.
“I immediately thought the worst, because her daddy passed away in October from cancer,” said Tammy, her Southern drawl tinged with a mother’s concern.
But the swelling didn’t emanate from a cancer or tumor of any kind, or even an affliction most people are familiar with.
In a hospital room at LeBonheur’s, Aishlyn’s blood test results pointed to Nephrotic Syndrome, a rare and chronic kidney disease. Tammy, like many others, had never even heard of this condition.
Doctors assured her that Aishlyn likely had a form of Nephrotic Syndrome called Minimal Change Disease (MCD) and would quickly go into remission with the help of prednisone (steroids—a medication that suppresses the immune system). The doctors’ confidence in Aishlyn’s uncomplicated prognosis made Tammy feel that her family would simply have to hunker down and get through Aishlyn’s treatment, and then it would all be over.
But the doctors’ confidence was misplaced.
The prednisone didn’t work.
After weeks of treatment without any sign of change in Aishlyn’s condition, doctors deemed Aishlyn steroid-resistant, a label placing her into yet another smaller, rarer, harder-to-treat subcategory of patients. In April, a kidney biopsy confirmed that an aggressive, rare kidney disease called focal segmental glomerulosclerosis (FSGS) was the culprit, not MCD. FSGS is the leading cause of kidney failure in children. To this day, 10 months after her symptoms first appeared at the shoe store, Aishlyn has not yet experienced relief from the symptoms that are causing harm to her kidneys.
“I think I was pretty calm,” Aishlyn said, recounting her first thoughts after learning what disease she had. “But I was thinking in my mind, ‘this was bad.’”
And then in March, just a month after Aishlyn’s diagnosis with a rare, immune-compromising disease, the COVID-19 pandemic halted the world.
In the span of just six months, Tammy’s husband passed away from cancer, Aishlyn was diagnosed with a rare, incurable disease and hasn’t responded to treatments, and a pandemic — to which the immune-compromised are particularly vulnerable — swept the world.
A series of events as difficult as these could quite possibly devastate a family. But the Cases refuse to submit to devastation. Quite the opposite, in fact — this family radiates gratitude and continues to find strength in their faith.
“We prayed a whole lot, and I asked God, if He had to put her on this journey, that He would please be merciful,” said Tammy. “He has been, so we’re just very thankful.”
The Cases are grateful for the chance COVID-19 provided to stay home and stay safe in the midst of Aishlyn’s new diagnosis. The Cases are grateful for Aishlyn’s relatively minor outward symptoms, even though remission continues to elude her.
Physically, she appears healthy. The swelling has subsided and doesn’t continue to plague her as it does other FSGS patients. Since she’s stopped taking prednisone, the harsh side effects that accompany steroids have disappeared. But each of Aishlyn’s lab results show that she is still “spilling” protein from her blood into her urine, causing irreversible harm to her kidneys.
Other than frequent fatigue and Tammy’s eagle-eye watch on her sodium intake, Aishlyn’s life mostly resembles that of any other fifth grader. Even though she may seem healthy, however, the knowledge that her protein-spilling has yet to stop hangs over the family each day.
After Aishlyn’s diagnosis, Tammy scoured the internet for more information and support, and found both in NephCure Kidney International.
“NephCure had the most information that was easily accessible,” Tammy said. “It was just the best by far for me to get information, so I was really thankful for that.”
In July, just a few months after their new normal begun, the Cases participated in NephCure On the Move Summer Challenge — and ended up raising $2,545, the most of any participating team!
When Aishlyn was last admitted to LeBonheur’s, she said something to her nurse that’s stayed with Tammy ever since. Something that encapsulates the patience and faith that power the Cases through each challenge they face.
“[Aishlyn] looked at that nurse,” Tammy recounts, “and she said, ‘Sometimes, God just puts you on a journey, but I’m going to be okay.’”
Homemade Spaghetti and Meatballs
Meatballs
Spaghetti Sauce
For a kidney-friendly diet, we constantly hear the words “low-sodium.” And while there are certain pre-made seasonings, rubs, and blends out there, I try to be mindful of what ‘salt-substitute’ seasoning I use. Often times, salt-substitutes have higher levels of potassium. Your best bet is to invest in herb-based seasoning blends or make your own! Here’s some seasoning blends to make at home that are shelf stable and delicious!
When looking to pack flavor into a dish try infused olive oils! They add great flavor and aromatic notes to anything you’re cooking. Start with the infused oil trifecta!
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