Aaron woke up with slightly puffy eyes when he was about two and a half years old. At the time, I had thought it was just a product of being sleepy. I called my husband who was out of state on vacation and told him. By the time my husband returned two days later, Aaron’s legs, groin, and eyes were very puffy. He was in pain. We were scared and had no idea what was going on.
We called his pediatrician that day and she saw us immediately. She confirmed that there was a problem with Aaron’s kidneys.
We were referred to a pediatric nephrologist who told us about Nephrotic Syndrome.
After Aaron’s diagnosis, he had several relapses and a couple of biopsies. We had a scare when he was about nine years old.
During that relapse, Aaron’s medication stopped draining the excess fluid from his body and his blood pressure was not normal. His nephrologist changed his prescription dosage a couple of times, but the fluid still would not drain. Thankfully, the nephrologist on staff at the emergency room fixed the dosage and Aaron was home with us five days later.
In the past, Aaron asked a lot of questions about why he had the disease and why he couldn’t eat the same food as his friends. I would tell him that he was just like the other kids and that he could do all the things his peers did. He was only different because he had to take medications and he had to be on a slightly different diet.
Now that he’s older, he seems to accept his diagnosis. He’s shy and he does well in school. He plays sports and video games like other teenagers his age. More importantly, Aaron has not had a relapse in more than four years with the help of his new nephrologist, Dr. Alex.
If I were to find a theme woven into the story of my 11-year-old daughter, it would be “the presence of God.” Although we began our journey with kidney disease only a few short months ago, Acacia’s story always has been, and continues to be, filled with sacred presence.
Acacia’s health and physical aptitude was exceptional since birth, and her love of food, particularly healthy and complex food, always made her a wonderful companion at the dinner table. We were shocked when just this past July 2013, Acacia presented with fatigue and stomach bloating. Then, suddenly, “puffiness” appeared in her eyelids, ankles and legs. An afternoon in the ER resulted in a week in the hospital, during which time she was diagnosed with Nephrotic Syndrome. And following a kidney biopsy, she was diagnosed with FSGS (Collapsing variant). Suddenly this extraordinarily active, fit, healthy 11-year-old was experiencing unexplained pain throughout her body. We simply could not manage the Nephrotic symptoms.
During Acacia’s time in the hospital, we were also made aware that she is positive for the Parvovirus B19. There is some research indicating that Parvo can trigger FSGS and, despite multiple IVIG treatments, she maintains the virus in her body. Her nephrologist at DeVos Children’s Hospital in Michigan is hoping that if she can clear the virus, we might be more likely to achieve a state of remission.
During October and November, Acacia spent one day a week in the hospital for a six-hour Albumin infusion, simply to make her body feel more comfortable — and she did have more energy for several days following the treatments.
In regard to her Nephrotic Syndrome: albumin, creatinine and protein levels, various doses of Prednisone and now a 4mg twice-daily Prograf treatment does not seem to be moving us anywhere closer to remission. Her levels are not becoming significantly worse. When friends and family ask how she is doing, my response is “Acacia is stable in an unpleasant and unpredictable place.”
When I consider the “presence of God” theme, I am overwhelmed by the spirit inside Acacia that is never missed by the doctors and other professionals who have joined us on this journey. Acacia’s energy for life and the joyful resilience that shines in her smile and in her eyes gives us wonderful hope that she will return to health. Even in the midst of adversity, she passionately embraces each step along our new path. We are filled with gratitude for the medical Staff at DeVos Children’s Hospital and for family and friends – new and old.
Submitted by Acacia’s mother
My beautiful doughter Adele was diagnosed with MCD at age 2.5 years. She spent 3 long years on steroids. Later, she became steroid resistant and was put on 2 months of cyclofosfamide therapy. Since then she has been in remision for almost 4 years now.
In July 2007 when she was just four months old, Adele’s eyes started to swell, but her urine tests were perfect. In the summer of 2009, doctors found positive proteins in her urine and noticed that her eyes were swelling even more. She was then diagnosed with Nephrotic Syndrome.
Adele has had nine relapses since then. The doctor does not give us any other medicine besides prednisone for her relapses because her body has been responding well to prednisone. She has not had a biopsy yet and only one albumin transfusion.
All of her relapses are the same each time with no differences. Every three months, when she is not on prednisone, her eyes swell and the proteins in her urine appear. At that point she has to start up on prednisone again.
Every relapse makes us very upset, but Adele is living an almost normal life. We have learned to do everything at home so the hospital is no longer necessary.
I pray and hope that the periods between relapses will become longer so that one day she will outgrow this illness. I also hope that more research and new medicines will be discovered soon.
Adelle was 12 years old when she was diagnosed with FSGS, presenting with swelling and pneumonia. She was initially treated with steroids with no response. She had massive proteinuria and the swelling was treated with infusions of albumin and frusemide.
In the next months she also received a course of cyclophosphamide and a course of cyclosporine; however, she did not respond.
Within 18 months, her kidneys had failed and within a week of starting peritoneal dialysis, the kidneys had completely shut down and were producing no urine at all. Over the next two weeks, as the blood albumin increased, her weight fell from 48 kg (106 lbs.) to 32 kg (70.5 lbs.). Adelle was on dialysis for 18 months and did very well, gaining a bit of weight and growing a bit.
At the age of 15, she received a cadaver kidney. FSGS recurred within 24 hours. She received a course of plasmapheresis and, initially, kidney function recovered. However, within weeks the proteinuria had returned. Once again she started plasmapheresis – this time once a week. This continued for 3 years and the weekly plasmapheresis kept the proteinuria within normal levels.
When we tried to extend the treatments to every two weeks, the proteinuria once again got out of control. After three years, the central line into her chest became infected, clotted and had to be removed. She then received a course of IV cyclosporine, 22 hours per day, for 12 weeks. This got her into remission; however, it lasted only for 12 months. Another course of cyclosporine reduced the proteinuria without getting her into remission.
She stayed reasonably stable without further therapy for the next 5 years. The transplant failed after 12 years and Adelle once again has started peritoneal dialysis. She is married and has a full time job as a marketing manager.
Submitted by Adelle’s mother.
In 2009 when he was just 2 ½ years old, we took our son Aidan in to the doctor because we thought he had an allergic reaction to something; his eyes and belly were swollen. That day my world turned upside down. His doctor immediately contacted a pediatric nephrologist and together they diagnosed him with Nephrotic Syndrome. He was immediately put on Prednisone and we learned the ropes of testing his urine for protein and tracking his protein levels and Prednisone doses in a binder.
Over the years since his diagnosis, we have learned that Aidan is steroid dependent and that every time we come near weaning him off the Prednisone he relapses. He has only been off Prednisone twice since diagnosis and both times were for a short time. He has also been on Cytoxan, which did get him off the Prednisone for the first time ever for six weeks. But its lack luster ability to keep him in remission did not encourage his nephrologist to try another round with him.
Since May of 2011 he has been supplementing his Prednisone with Cyclosporine and his relapses have become longer lasting and more frequent. Last week for the first time, Aidan’s relapse and subsequent edema got unmanageable in home care. He was hospitalized for severe edema, high blood pressure and all of the symptoms that accompany it. He has been on high doses of Albumin to try and replace the missing protein and remove the edema as well as three diuretics and three blood pressure medications. He gained 14 pounds from water and has been so uncomfortable. Although he stays in good spirits, we have had times when he is hooked up to so many machines, monitors and tubes and so out of it that I’m scared this disease will take my baby away from me before I’m ready. This week has been the scariest and most stressful week of my life. I love my son dearly and there’s nothing more I wish than to take away his pain and suffering.
Since the diagnosis I have had a profound appreciation for NephCure and what they have given me. Using the Lunch and Learns to become more informed about this disease and what different nephrologists are doing has helped me to be more proactive in my sons treatment and care. The community resources I have received through the message boards and the local walks have helped give me support and advice during some of the most difficult times. Without NephCure, I would be lost.
I pray that more awareness can be brought to both this organization and this disease to help administer effective treatment and someday find a cure for this terrible disease. Going through what I have with my son has been nothing short of terrifying and heart wrenching. Knowing how much my son has had to encounter and the amount of medications that go into his little body every day hurts my heart.
I hope that more recognition can be made of Nephcure and that we can continue to raise money for the research we need to combat Nephrotic Syndrome.
Aiden was recently diagnosed with FSGS and has been in the hospital for several months, but continues to smile! His mom, Sachet’ is a personal chef with whom Aiden loves to cook. We are excited to have Sachet on board as NephCure’s Resident Chef where she will share kidney friendly recipes every Friday!
Alex got up one morning and I noticed his eyes were very swollen. I took him to the doctor three times in one week and was told it was allergies. My husband and I took him for a second opinion and that day he was diagnosed with Minimal Change Disease.
Alex was put on Prednisone for 6 months with no success, and then we started Cyclosporine and blood pressure medicines – still no remission.
He had a biopsy in September 2012 and he was re-diagnosed with Nephrotic syndrome. The day of his biopsy he went into remission for five short weeks, only to relapse thereafter. He continued with the Cyclosporine until May 2013 when he was admitted to the hospital for extreme edema. The doctors decided that the Cyclosporine was not getting him anywhere and started him on Prograf. After four rounds of Albumin and Lasix treatments, he was sent home only to be readmitted two days later for Peritonitis. Finally, after 13 rounds of antibiotics and five rounds of Albumin he was released once again. We are hoping to stay out of the hospital and keep our little boy at home.
I sit here now writing this from his hospital room; he was admitted last night for high potassium levels and edema. I hope and pray everyday that a cure will be found for this disease, and that my little boy will go into remission and stay there for good.
When Alex was just 18 months old, he woke up one day with swollen eyes. I thought he was allergic to something but the next day it was worse. His testicles were swollen and he started having fevers so we went to the emergency room. Doctors told us that Alex had a urine infection and sent us home with antibiotics. I knew something else was wrong so we took him to another hospital in Reno, Nevada.
Alex was airlifted to the University of California Davis where there was a pediatric nephrologist. That’s when we found out he has Nephrotic Syndrome. He was put on steroids right away which helped. We stayed at the hospital for about 2 weeks.
When we went home, Alex started getting worse so I took him to Reno again. Doctors found out that he had caught respiratory syncytial [sin-sish-uhl] virus so they admitted him. A week later we went home. I had to take a family leave from work for a couple of months.
Since then, Alex relapsed five times. It seemed like a cold caused him to relapse. We ended up moving to Sacramento to be closer to his doctor.
Alex is now 6 years old and has not relapsed in 2 years. I thought it was gone, but I guess I was wrong.
Last week we found out that he has relapsed again! I’m so tired of this and I wish there were a cure. I wish I had it instead of him because I hate seeing him sick like this.
Until I found this website, I never knew how many other kids suffer from this illness. My heart goes out to all of them.
I remember the day my son was airlifted to UC Davis and we learned he has Nephrotic Syndrome. That was the scariest day of my entire life.
Alexis was diagnosed with congenital nephrotic syndrome when she was six weeks old. Since diagnosis, she has been admitted to the Children’s Hospital 12 times and Nebraska Medical Center once. She’s had two surgeries– a double nephrectomy and a hernia repair. There have been multiple ER visits and many medications.
Through it all she has flourished. When people meet her for the first time, no one can tell she suffers from Nephrotic Syndrome. She was slightly delayed on walking and crawling because her abdomen got so big between 4-6 months. But since then she has taken off running- literally. She is a sweet but sassy little three year old who gives the best hugs.
For someone who has gone through more than most in her short life, she doesn’t even seem to notice. She loves to play with her doctor kits and she knows how to use all the different medical items. She also loves her kitchen set, Wonder Woman, and Supergirl.
Alexis brightens up the lives of everyone who meets her. Whenever we leave daycare she has to give everyone she sees a hug. I’m amazed to see her grow and learn every day. She’s so smart and seems so much older for her age. It’s hard to believe my baby is three years old already and to see how far she has come. I only hope she continues to thrive, especially after she gets a new kidney
In 2007, at the age of nine, I woke up day after day with very swollen eyes and face. I went to the doctor’s repeatedly and each time I was told the same thing, “Just an allergy, nothing serious. Don’t worry.”
After many times of being told that, one evening I took off my socks and was shocked at how swollen my ankles were. My parents were instantly worried and we headed straight to the doctor with the urine sample we had been asked to provide. After one dipstick I got the response “You’ve got Nephrotic Syndrome, go home, pack a bag and head to the hospital. Don’t take too long as this could be serious.”
As we left the doctor’s, my mom rang my dad, who began to Google it. None of us had ever heard of Nephrotic Syndrome before.
The statistics of how rare it was shocked us. I went to the hospital and spent a few nights there. I was then discharged and taking 14 pills a day. (That’s a lot for any one let alone a nine year old!)
Since then I have had endless numbers of hospital visits and different treatments. I’ve had a chemo drug and suffered hair loss as a result. It’s been a constant struggle for me. It gets me down that I can’t do everything that all my friends do and I hate taking medications and testing my urine each morning. I can’t do any sport/physical exercise as it gives me unbearable abdominal pains. I have constant abdominal pain as it is.
It’s crazy how Nephrotic Syndrome has gone from something that I went from spending nine years not knowing it existed to something that affects me on a daily basis.
When the bloodwork came back from her 4 year-old checkup, our pediatrician discovered that Alyssa had high cholesterol. In response, we immediately changed her to a vegetarian – almost vegan – diet, but it had almost no effect. We were referred to a cardiologist, whom after months of monitoring couldn’t figure out what was the cause. And because Alyssa was too young for cholesterol medicine, there appeared to be nothing we could do. That was until her next checkup, when a urine test came back with high levels of protein. It was then that we were finally referred to a nephrologist. A renal biopsy revealed that Alyssa suffers from nephrotic syndrome brought on by FSGS with C1Q Nephropathy. After a few medications did nothing, it was determined that Alyssa was steroidresistant, cutting the number of potential treatment options in half. Alyssa has been on a lowsodium, lowsugar, and recently lowpotassium diet, and she needs a daily vitamin D supplement. Last week Alyssa started a clinical trial of lipid apheresis, also known as LDLapheresis. It is a process which separates her blood’s plasma and runs it through a machine similar to the one used for dialysis. It then filters and removes cholesterolcontaining LDL fats (lipids) from her blood. She had a hemodialysis catheter placement surgery a few weeks ago and is in the early stages of treatment. The hope is that after nine weeks of lipid apheresis, Alyssa will be in remission.
I think that I was born with Nephrotic Syndrome, but I was a baby and I could not talk yet, so I was unable to tell anyone where I was hurting.
When I was two, my entire body was swollen and I was in a lot of pain. I could barely open my eyes. None of my clothes fit me anymore and my feet were so swollen that it hurt when I tried to walk. At first, the doctors did not think that it was anything serious. My mom and dad had to take me to the doctor’s office repeatedly until the doctor finally realized that it was a much bigger problem than a bug bite or allergic reaction. Finally, I met with my nephrologist that was two hours away from my home. He told us that I had Nephrotic Syndrome and I was given Prednisone to help my kidneys get better.
Within the past several years, I’ve taken a lot of medications. I am still taking Prednisone but I have also taken other medications including: calcium carbonate, Norvasc, Ranitidine, Chlorambucil and more. I really wish doctors could find a way to make Nephrotic Syndrome go away because I don’t like to be different than my friends. I can’t eat what they eat.
My colds last longer than my friends because of Nephrotic Syndrome. Over the past three years I have been hospitalized nine times. Each time I was in the hospital, it started with me catching a cold or something. When I thought Nephrotic Syndrome was gone for good, I played T-ball for the first time. I was able to play every game. I had a lot of fun and made new friends but I had to miss picture and trophy day because I was sick. I also took ballet but I missed a lot of practices because I was sick. Now, I play soccer. I pray that I can play the whole time without getting sick.
Every night my family prays and we ask God to heal me from Nephrotic Syndrome. I know that His angels are watching over me and that He will protect me. My dad tells me we are the body of God and so God does his work through us. So I also pray for the people that are working to find a cure that will help me and other kids like me get better.
July 6, 2007 was the day our then four year old son, Andrew, was diagnosed with Nephrotic Syndrome. Like everyone suffering from this disease, it is a day we will never forget. We were on vacation when Andrew awoke one morning with severely swollen eyes.
Being in the mountains we figured it was allergies, gave him some Benadryl, and he went off to play. The swelling went down but returned after he took a nap. He said he felt fine so we gave him some more Benadryl and off he went. The swelling subsided and we thought all was well until a couple days later when we realized that his legs were so swollen that you couldn’t see his knees or ankles. We called Andrew’s pediatrician and explained the symptoms. She told us that she thought he was losing proteins and to get him to an emergency room right away. We packed our things, drove home, and took Andrew to our local hospital where the diagnosis was made. Thinking back, we were so naive and completely unaware of the long and difficult journey that lay ahead. We had never heard of Nephrotic Syndrome and thought that once Andrew was out of the hospital all would be well. It wasn’t until our appointment with a pediatric nephrologist at UCLA that we learned what to expect from NS.
Since diagnosis, like many children with NS, Andrew has been through multiple relapses. In late 2008 and early 2009 the relapses came more often and with greater severity. It got to the point where Andrew could not get back into remission without ending up in the hospital. By biopsy, Andrew has Minimal Change Nephrotic Syndrome but one doctor had the opinion that he was in the early stages of FSGS. Andrew has also been through many medications – Prednisolone, Cytoxan, Cellcept, Prograf, and Rituxan- to try to control relpases and maintain remission. Each has its own side effects but the Prednisolone is the cruelest. The Prednisolone changed our normally happy, bean-pole of a little boy. He put on weight, his appearance changed, he became irritable, he suffered from severe mood swings, he ate and slept like a teenager, and many times he would simply melt down.
Andrew began to relapse without obvious triggers; each relapse took longer and longer to get back to remission. The doctors believed that Andrew had become steroid dependant so we had to try something new. In August of 2011 Andrew had two double infusions of a drug called Rituxan. Normally used to treat non-Hodgkin’s lymphoma by killing B cells in the immune system, its use has shown some success allowing children with NS to maintain remission. Since his infusions Andrew tapered off the Prednisolone and Prograf and has maintained remission. This is the longest stretch without a relapse since diagnosis. We are thankful for each and every day of remission; unfortunately we know that Rituxin is not a cure and that Andrew’s battle is not over.
Like all kids suffering from chronic diseases, Andrew has been forced to mature quicker than normal. He quickly learned how to read food labels for sodium content to determine what would fit into a low-sodium diet. He came to understand that people who may not be aware of what he is going through and that they will say cruel things. Blood draws no longer elicit tears and Andrew will actually direct the lab techs to the best vein. He has handled his journey with NS and all of its associated problems with grace and determination that make us proud to be his parents. Despite all of the bad things about NS and being ill, Andrew’s NS has brought good as well. Andrew, Bailey, and Evan have all donated birthday gifts to local hospitals and the last three years they sent out a flier during the holidays and collected toys for the same purpose. They know what it is like for a kid to be stuck in a hospital. If Andrew’s journey ultimately teaches our children to have more compassion for others, it will ultimately prove to be positive.
Our son Andrew was first diagnosed with Nephrotic Syndrome at the age of 22 months. He woke up one morning and his eyes were very swollen. I really didn’t think much of it. I simply thought it may be an infection, so I waited for the next day. The next morning came and when Andrew woke up-his eyes were worse. All you could see were 2 little slits. Obviously we were very concerned so we immediately took him to see his pediatrician. When his doctor saw him, he diagnosed the problem almost instantly and told us to immediately go the hospital. My husband and I were extremely confused, we didn’t know what was going on.
We met with a Nephrologist when we arrived at the hospital and she explained to us what exactly was going on with Andrew. She told to us that this was a disease which was affecting his kidneys- instead of the protein being filtered through his bloodstream it was spilling through his urine which was causing the swelling. Even with the doctor’s explanation, we could not believe this was happening.
The first year was extremely difficult. The doctors at the Montreal Children’s Hospital attempted to put him on Prednisone (a steroid medication) but we soon found out that steroids did not work for him. He would continuously relapse and would swell up all over again. The doctors then decided that a kidney biopsy would be necessary to determine which other medication would be appropriate for him. That is when the doctors decided to put him on Tacrolimus (a medication used to treat transplant patients). He was doing well with the Tacrolimus until they performed the second biopsy. They discovered that his kidneys had been permanently scarred due to the Tacrolimus so we had to once again change the medication-he is now on Cellcept twice a day.
As parents, there is nothing worse than seeing your child suffer. He would swell up so much at first-you couldn’t recognize him anymore. Looking at him in his hospital bed, being poked and prodded by nurses and doctors and knowing there is nothing we can do. Those were the hardest times, especially when your child is looking back at you and probably wondering how we could let them do this to him.
Since then, Andrew is doing very well with the Cellcept-he had a few relapses at first but has managed to bounce back on his own!! Andrew has been, and still is a very brave boy. He is a true inspiration-our inspiration!
As a family, we have dedicated ourselves to raise awareness and raise funds for research into one day finding a cure!!
When Andrew was 7 years old, he had a kidney transplant. His dad gave him one of his kidneys. They were in the hospital together, side by side in the operating room on Andrew’s transplant day. Andrew was hoping that the new kidney from his dad would mean that he would be all better and not have to worry about his kidneys anymore, but FSGS returned in his transplanted kidney, just days after his transplant. Andrew got sick when he was 4, so there’s not much to tell about “pre” being diagnosed with FSGS. He’s 11 now, so he’s been sick for 7 of his 11 years (most of his life that he actually remembers, since he doesn’t remember much before he was 4). So, most of his story is “post” diagnosis and how it has affected his life (and that of our family). Physically, you can’t tell by a photo that he necessarily has FSGS since he’s not on any medications right now that change his appearance, but certainly having this disease has changed his day to day life in many ways and I can certainly speak to that.
My NS was controllled with prograf for 3 years until I started relapsing just about every time someone near me sneezed. The steroids were sort of working to keep me under control; but they took a long time to work & I hate being huge. I had a biopsy done this year and from there I was give a rituximab infusion. That seemed to take care of things for about five months until this most recent relapse that came back with an attitude. I’ve seemed to develop some vocal tics that no one can connect to the relapse, but it also went away with the steroids becoming IV. Now that I am tapering from steroids the tic is coming back. Not only am I super hungry and anxious about being made fun of for looking like a puffer fish, but now I have these crazy loud tics that no one can explain. The next steps are to wait and see & test my urine as I slowly taper from steroids. I am thankful to be among the best doctors in the world. I can’t believe how hard they work for me and I hope that someday I can return the kindness.
In January of 2009, Aubrey’s pediatrician noticed that there was protein showing up in her urine. Aubrey had been treated a few times that month for the flu and the norovirus and she was being examined again to make sure she wasn’t dehydrated. Aubrey’s pediatrician ordered blood work, 24-hour urinalysis, and an ultrasound. The results from those tests didn’t explain why there was protein present in her urine so we were referred to a pediatric nephrologist at MCV. In March of 2009, Aubrey had a kidney biopsy and then we received the diagnosis of FSGS.
When we got the diagnosis we were in shock. We had never heard of this disease and we had no idea what the disease was or how our daughter would be affected. All we knew was that our lives would never be the same. We have no idea how Aubrey got this disease and as of today there is no cure.
Since the diagnosis Aubrey has been treated with a few different medications. She started taking prednisone (a nasty steroid) and ranitidine. These medications caused her blood pressure to rise so she was put on enalapril to help lower it. She then needed to be put on a Vitamin D supplement, after that Prograf was added, and then we began to wean her off of the steroids. The side effects from these medicines are awful and as a parent it is difficult to see how it changes your child both mentally and physically.
Even though the last 2 ½ years have been difficult we are extremely lucky. Aubrey has had a partial response to steroids and in October of 2009 the amount of protein in her urine had decreased to a level that is considered remission. She continued to stay on medicine until June of 2011 and then we took her completely off of medication to see if she would remain in remission. She was able to stay off medication for five weeks but her numbers started to climb back up so we had to put her back on medication.
The day that Aubrey was diagnosed I thought that our world had ended. I had no idea how to handle this or how to explain it to Aubrey. The day after the diagnosis, my husband searched online for FSGS and The NephCure Foundation came up in the search. We contacted them immediately and ever since then I have been actively involved in raising funds and awareness for NS and FSGS. In the past two years there have been many exciting medical advances made and I know that with your help we can find a cure. I am team leader in the state of Virginia and last year I helped plan the first walk for the area and I am in the process of planning our next walk.
Today, Aubrey, is 10 years old, in the 5th grade, and is a happy girl. She enjoys life to the fullest and doesn’t take it for granted. She loves her brother, reading, math, and dancing. She continues to amaze us every day.
Following the initial diagnosis, Ashley began taking Prednisone in addition to Enalapril. However, the Prednisone did not help the amount of protein that she was losing. After a recent hospitalization and second kidney biopsy, we learned that Ashley’s FSGS and kidney disease had progressed to Stage 5.
Ashley is now facing surgery to have a catheter put in as a port for peritneal dialysis and to have one of her kidneys removed.
Ashley will then be put on a waiting list for a kidney transplant. I never dreamed that at only five-years old, my precious child would have to go through so much! As the day nears for the dreaded surgery, I continue to worry about how all of this is going to affect my child that has additional medical problems as well. However, my only hope is that one day she will be able to live a “normal life” again!
In September 2010, when she was three-years-old, Autumn underwent her first kidney biopsy. Autumn has been spilling massive amounts of protein in her urine along with albuminuria since she was 10 months old. After her biopsy we learned she has Focal Renal Glomerulosclerosis along with massive albuminuria and proteinuria.
She also has congenital hypertonia as well as developmental delays. She has swelling in various body parts. Autumn also underwent a muscle biopsy in March of this year. Autumn is believed to also have a Mitochondrial disorder.
Autumn has her good days and her bad days. She is on several medications incluing Enalapril to lower the amounts of protein, Vitamin E, and a trail drug CoQ10.
Autumn is under the care of a Renal Specialist, Metabolic Specialist, and soon to be a Neurology Specialist. We will never give up on her. Autumn has the will to fight this and not let this horrible disease and its devastating effects define her.
I am thankful to a mother that I just spoke with who has a daughter with FSGS. If it was not for her I would not know about The NephCure Foundation. I am learning new things everyday to help Autumn. I will forever be thankful to NephCure for allowing me to put my daughter’s story out there. I will not give up until there is a cure for my daughter and all the other children or adults affected by this.
Told by Bethany (Autumn’s Mom)
Ava and Conner’s Story
Our 3-year old, Ava, suddenly became very ill before Thanksgiving this year. She became very swollen in her face and stomach, so we rushed her to the hospital. We recognized her symptoms were that of Nephrotic Syndrome, the same rare kidney disease that almost overcame our firstborn, Conner, 8 years ago.
At 11 months, Conner was diagnosed with Nephrotic Syndrome. He was hospitalized for 5 months because he was resistant to steroids and not responding to other medicines. It was a scary time; we were not sure if he was going to make it. Conner underwent a kidney biopsy, had a PICC line (a catheter inserted into the arm to deliver medicine over a prolonged period) because of the length of his stay, and was given tons of immunosuppressant drugs. Eventually, the doctors determined the right combination of medicine and treatment and, after a few years and several hospital stays, they officially diagnosed Conner with Minimal Change Disease. He has been in remission since he was 5, he is now 9!
The doctors told us this disease is rare and not likely genetic, so we did not have anything to worry about with our other kids. But here we are, battling Nephrotic Syndrome again with our baby girl. This time, it looks like we are dealing with FSGS, a more severe form of the disease than Conner had. Ava has been in the hospital for the majority of the time since she was diagnosed. If you know Ava, you would barely recognize her due to the swelling and side effects of the steroids, which has made her beautiful face look totally different.
The worst-case scenario could be many hospital stays, immunosuppressant drugs, a future of dialysis, and a potential kidney transplant. (Any other possibility would be wonderful!) Since we have 2 children with the disease, the doctors suggest genetic testing to better understand the type of Nephrotic Syndrome they have and to determine the right treatment for Ava.
Told by Ava and Conner’s Parents
Bettyna, as far as I knew at the time, was a healthy young lady who was looking forward to boyfriends and dates and jobs. Instead, one day, Bettyna “the party girl” was asleep during a party (which was odd in its self). She had to wear flip flops because none of her shoes fit. As her mom, I just thought she was going through the change from a little girl to a young woman. Instead it was something else. I took Bettyna to the emergency room the next day, which was a Saturday. The ER doctor told me she was just a young lady retaining water and to follow up with her pediatrian on Monday.
She has had the same pediatrician for the last 20 years, so I called him and he said to bring her in. We took the long bus ride to Saint Christopher’s Hospital for Children and when her pediatrician saw her he said, “let me get the kidney doctor”. As soon as she saw Bettyna she said she needed to be admitted. It was a whirlwind after that. She had a biopsy done of her kidney and in May of 2009, my oldest daughter was diagnosed with FSGS. Her life has not been the same. Since then Bettyna has gone into end stage renal failure and is currently receiving PD dialysis at home. We have switched from manual to the machine at night for her exchanges to try to give her some sense of normalcy in her life but is has been to no avail. We are currently awaiting an appointment for a fistula for hemo dialysis, which is the next step. We are also waiting for a kidney transplant and are active on the list. As I type Bettyna’s story, she is in the hospital again from complications of her condition. I pray everyday that my daughter receives a blessing and I ask that you pray to for my daughter Bettyna.
Belle was initially misdiagnosed by an immunologist at our local hospital. During our three-week stay at the hospital, I felt so alone and scared, thinking we were going to lose my daughter. She was finally diagnosed with Nephrotic Syndrome. I thought that by having the answer, Belle would be fine, and that she could get some help and treatment. Little did we know that was only the beginning of the battle. After the nephrologist finally got Belle’s symptoms under control, Belle was put prednisone for over two years. That was another battle within itself due to all the side effects. Finally, I decided I was unhappy with the care she was getting from the only pediatric nephrologist in our state so I looked elsewhere. I found a wonderful physician in Memphis who decided it was time to wean Belle off the prednisone. She explained to me that the chances of relapse were high but she agreed it was time to give it a try. Belle has been steroid free since the beginning of 2011! We recently got another pediatric nephrologist in our state and he is wonderful! My advice to parents is to take charge of your child’s care, not to be afraid to ask questions, and to learn about the disease.
I found the NephCure website over two years ago when Belle was diagnosed and it was amazing to have so many questions answered in one place. I am now working with NephCure to start up a group who will meet in our area and help other parents understand this illness. My prayer is that my daughter Belle can stay healthy on her current medications so that she can live a normal, happy and healthy life.
It was just after New Years in 2012 when Benson started slowing down and showing a distended tummy. He was usually a very busy, energetic 4 1/2 year old. At first we thought he was just bloated but later in the week he showed some very obvious signs of swelling. We took him to the doctors office the following morning with an abdominal xray. It did not show much so he was set up for an ultrasound later that day. Within a hour after leaving the first appointment we got a call canceling the US and setting us up for an appointment with another pediatrician in the clinic. The lab work had given a clear indication as to what was going on. For as shocking as this diagnosis was, somehow the stars aligned. The new MD we met with had just finished a fellowship in pediatric nephrology prior to coming to our clinic and she was amazing. Having a few nurses in the family, we were able to home hospitalize him and our doctor called to check in morning and night. Benson was put on high doses of steroids and went into remission within a week. Unfortunately, he relapsed 2 more times and Cellcept was initiated. This cycle has continue 3 times and he has only been off meds for a total of 7 months since the initial diagnosis. The worst part has been the emotion and physical side effects from the high doses of steroids. When he went back to school after his second cycle of relapses many of his classmates didn’t recognize him due to his facial swelling and weight gain. Benson has showed incredible maturity over the past 5 years with the doctors visits, lab draws, diet restrictions,s and taking scheduled medications throughout the day. Despite this disease and its obstacles he continues to excel at the top of his class in school and has become a very talented young athlete. We’re grateful that he’s been able to manage this disease with medications, despite some of the awful side effects. The future is still very unknown and that is scary as we approach our 3rd attempt at discontinuing medications this spring. Thank you to all our family, friends, doctors and Nephcure for the continuing support as we move forward and pray for a cure.
During the summer, there had been a couple of instances where he would wake up from a nap with swollen eyes. We had chalked it up to summer allergies, and it would would always go away within a day.
Then, one day in October, he woke with swollen eyes that did not go away. Within three days, his little body was swollen with fluids.
We went immediately to the E.R. and at 2:30 a.m., we got our diagnosis: Minimal Change Nephrotic Syndrome.
Blake finished his first course of prednisone in March 2013, but unfortunately, he has relapsed twice since then. We are hopeful that he will outgrow his Nephrotic Syndrome at some point.
He is truly our superhero (we call him Super Blake)! He is the strongest, sweetest, smartest, and most loving little boy.
Nephrotic Syndrome will not run our lives, and we will get through this. We are truly blessed and are so lucky to have our two beautiful boys. We are hopeful that Blake will have a very healthy future!
In 2003, our family moved from the State of Washington to California. We noticed some swelling around then-five-year-old Brady’s eyes and thought it was due to allergies since we moved to a farming area that did a lot of crop dusting.
After being examined by his pediatrician, we were told that it was not allergies and referred to a specialist. Brady was diagnosed with Nephrotic Syndrome. We made several attempts to get him to stay in remission with Prednisone. But once we would taper he would always relapse. He was finally admitted to the Children’s Hospital in Fresno where they did a kidney biopsy.
It came back showing Minimal Change Disease. From there we kept trying the Prednisone over and over and over again. Same results. He had one other hospital stay when his swelling became so severe that they had to but him on the IV Prednisone and Lasix. Over the next several years he tried Cytoxan and Cyclosporine, neither helped.
We moved to Tennessee in 2005. The doctor at LeBonheur’s continued to try the Prednisone and taper, continually tweaking it to see if it would help. He finally added Prograf, which helped put him into remission. Brady was able to taper off all of his meds and stay in remission.
He was 10 years old (2008). Now came the time to repair the damage the meds had done to his body. By this time he was severely overweight and didn’t have much self esteem. But once some time had passed he sprouted up and thinned down and became a kid that nobody would ever know had any health issues.
We would see his nephrologist once a year, just for a check up. Then we hit the three-year mark we had all been holding our breath for. Since at the beginning of all of this we were told three years med free remission meant he would be “cured”. Ahhh, sweet relief!!!
Then, at 14 (2012), a tall, thin, eighth grader, two weeks away from his four-year medication free remission, yep you guessed it — puffy eyes, face, stomach, legs. Our worst fear. The fear we knew and remembered all to well. One that we thought was in our past. And that horrible green shade of +4. This was a heartbreaking reality check for the whole family.
Back to the doctor he goes. Back on Prednisone he goes. He is now on his second relapse. Once he hits 20mg he relapses. So we are now trying a “longer” taper, hoping it will hold. However, the story does not end there. Being diagnosed at 5 and 14 are two completely different worlds!
Brady is now scared to death of putting all of the weight back on, terrified! So, his way of preventing that is to not eat! We have gone back to the low salt diet, bought all of the “special” foods, seasoning, etc. But his day consists of two bananas in the morning, nothing at school, two bananas after school and then a tiny portion of dinner.
From his first appointment at the end of March to his last appointment at the beginning of May, he has lost 33 pounds. He is so thin, too thin!
We requested for him to talk to a dietitian, but his doctor said that would be more for kids who were overweight. His doctor did tell him as long as he is in remission, even on the Prednisone, he can eat whatever he wants. (Within reason, of course). So, I am hoping that he will get this in his head now that it is ok to eat!
We are hopeful that he will reach a medication free remission again soon. He is not letting this stand in his way of being on the high school soccer team and his spirits have been lifted since his most recent relapse. We would love to meet with any families struggling with this that are located in Tennessee (Memphis area).
Told by Brady’s mom.
Caryl’s Story (Philippines)
In December 2012, I noticed one morning that my daughter’s eyes and face were swollen; however, the puffiness subsided several hours later. Her feet became swollen later that afternoon. I asked her if she had been crying during the night and she had not.
I took her to our pediatrician a week later. The doctor did several blood tests. Urinalysis was positive for protein so she was diagnosed as Nephrotic Syndrome.
She showed improvement after a month of treatment but she relapsed after having diarrhea. She was then admitted to the hospital because of severe edema.
She is currently on steroid therapy and her blood and urine are strictly monitored. She stopped attending school to prevent further infections that could injure her kidneys. Her doctors want to perform a biopsy but I have refused because it is too expensive.
One morning in January, I noticed that my daughter Carmen had suddenly gained a tremendous amount of weight. I knew it wasn’t normal for a two-year-old to gain 12 pounds that quickly. I immediately took her to the local emergency room.
The doctor claimed that it was just gas and he sent her home! I couldn’t accept his answer so I called her pediatrician the next day and explained the situation to her. She wanted to schedule an office visit with Carmen immediately and run tests on her. The pediatrician discovered protein in her urine and admitted her to LeBonheur Children’s Hospital where she stayed for five days and was treated for Nephrotic Syndrome.
For several years, Carmen struggled with Nephrotic Syndrome. She missed several days of school and frequently caught secondary infections due to taking medications that compromised her immune system.
Carmen has not let this condition stop her from enjoying her life and has not stopped her from believing she will be healed.
She has been a cheerleader at her school for several years. She won second place in a school spelling bee; received roles in several local theater plays; and worked as a page for Arkansas Senator Homer. She also met Governor Mike Beebe while working as a page.
Carmen has not had a relapse. We are surprised and thankful. It is an answered prayer.
When Cassidy was four years old we had never heard of Focal Segmental Glomulersclerosis. Now, it is a part of our vocabulary. It rolls off our tongues as if it is just another word. We know it is more than just a set of words. In 2002 we were struck by this disease like a lightening bolt in our household. It would set off a battle that we fight to this day.
That summer, we had just moved into a different house. We had been under intense financial strain. But the events that happened that year and every year since are seared in my memory.
My husband and I had gone out for an evening and when we returned home, the babysitter told me Cassidy had hit her head. We checked on her, she had a bump on her head. She appeared okay other than that. The next day I noticed her eyelids were slightly puffy (a symptom I would learn to look for almost daily in her, even to this day!) I called the doctor and they told me it was probably some allergies and to give her Benadryl. It seemed to work because by the end of the day it was gone and I didn’t really think about it again. I didn’t think about it again, that is, until I began to notice that it was a daily occurrence.
We made an appointment to take her in. They did a routine check up and found nothing. We played this game for a couple weeks until finally one night when I was sitting on the floor folding laundry, my little Cassidy came and stood in front of me and when I looked up I realized I could not even see her knee caps her legs were so swollen! I worked at a school that year and it was the end of the school year and I knew I could not take off from work. So I told my husband “you have to take her in and you do not leave until they give you an answer!”
By now, I knew something was wrong. I was fairly sure there was something wrong with her kidneys but I didn’t know what. We were scared. The next day I went on a field trip with the students. My husband called me during the field trip and told me that the doctor had diagnosed her immediately with Nephrotic Syndrome and they would be taking her by ambulance to Children’s Hospital in Omaha.
I left the field trip and drove as fast as I could to where she was and by the time I got to the hospital they had decided to keep her closer to home, but she still in the hospital to get the fluid off of her.
We spent the whole summer on 60 mgs of steroids and our pediatrician kept trying to get us into the nephrologist in Omaha. For 12 weeks we watched our little girl swell up like a balloon due to the steroids. She couldn’t move, she had constant mood swings, and she would scream that she hated me. It was exhausting.
At one point she became sick with a cold and her nose started bleeding and she started throwing up blood. We called the doctor and he told us to bring her in immediately.
Finally they got us into the nephrologist 12 weeks after the onset. They scheduled a biopsy and that is when we were handed the title of FSGS. We learned that she would have this forever, that it could go into remission, but that it will always be there and it can rear its ugly head whenever it wants. We learned that they really didn’t know what to expect in the future.
They didn’t know if it had shortened her life span or if she would be able to have children some day. What we did know was that we were now looking at a daily regimen of steroids, Cyclosporine, and Enalapril and for how long we didn’t know.
The steroids took a toll on her. Her immune system was jeopardized. We sent her to pre-school that year, fearful of what was to happen. She was bloated from the steroids so we were concerned about what the other kids would say. We were worried about her physically exerting herself during play. We were just racked with worry.
We made a decision that day to take it one day at a time. Now, almost 10 years later she is the little girl I knew she would be. She is in remission and only has to take Enalapril now. I feel like I am always waiting for the shoe to drop and one day she will wake up and I will see those swollen eye lids again.
The doctor is optimistic that she may not relapse since she was so young when we caught it. They were surprised at the reaction to the Cyclosporine. We go in once a year for a check up now. I always have it in the back of my mind. Things I am fully aware of are that she has access to water all the time, that she be able to have bathroom breaks at school when she needs them and that she rest when she needs it. This summer she wanted to detassle but I was worried about the heat so I told her we would call the nurse at the nephrologist, who has become as much a part of our family as anyone! She discouraged against it due to the fact that they have had a lot of kids relapse in detassling due to inhaling the pollen and dust.
She also said that the heat and sunburns are also hazardous. I know we are going to continue to run into things that could trigger a relapse. I also know it is something she will always have to be aware of. I am just thankful that we have such a good set of doctors and nurses to patiently answer any questions we may have.
We are also thankful that our little girl, who we have had to fight MANY battles for over the last nine years, is such a strong vibrant young woman. I don’t know what life would have been like without FSGS. I imagine it would have been just that less stressful but in ways it has really pushed us to stand as a family.
In 2009, we took our daughter to the doctor for her four-year-old checkup. I remember the doctor asking if she would be able to give a urine sample. I figured that Cecily was not going to go for that and the doctor said no problem we really don’t need it. To my surprise Cecily did it, and that test changed our lives. Her protein levels were through the roof. And within a week we were at Duke Hospital with the news that she had Nephrotic Syndrome.
We had no idea what Nephrotic Syndrome was, but they told us that a round of steroids would help stop the high level of protein spillage. After three months of steroids and her levels was still 3+. They were not working.
Next stop — genetic testing. They told us that the chance of it being a genetic issue was slim to none but we better check. As it turned out, it was genetic and she has Nephrotic Syndrome Type 2. We found out that my husband and I both have a gene (NPHS2) that is mutated. So BOTH my husband and I are carriers of this mutated gene. The odds of the two of us BOTH having this is like one in a million. We have always said that Cecily is one in a million and now we know this is true! For us, our kids have a 1 in 4 chance of getting two mutated genes, and this is the case for Cecily.
What this means is that Cecily’s kidney filters do not work and will never work.
She is on Lisinopril, which helps her blood pressure, but she is still spilling at a 3+. Her cholesterol is her newest issue which is at 260. If we can’t get this this under control we will have to go on medication for that too. The good news is that her kidney function is at 100% for now. And did I mention that otherwise she is totally normal? She has no swelling and absolutely no other symptoms. This is great, because NO one has any idea anything is wrong with her. he is a regular seven-year old.
She is going to need a kidney transplant one day. They do not know when. It is a progressive disease and it could be next year or it could be in 30 years. Right now her kidneys are working at 100 percent, so we are going to try to keep these as long as we can!
More good news is that when they do find a donor for her, it has a high rate of success. Since it is related to her genes, it should not affect the new healthy kidney. Right now, Cecily is happy and thriving like nothing is wrong.
Our whole world changed forever the first few years. Chelsea was put on Prednisone as she had numerous relapses. In 2010, she was put on harsher drugs that seemed to work, but Chelsea has had numerous Albumin transfusions and medications via IV drip.
Chelsea has been through so much, but is always smiling,
I love you Chels. You are my inspiration.
These children are so brave and do not get the awareness they deserve!
Told by Chelsea’s mom, Heather.
On July 23, 2002 our youngest son, Christian, was diagnosed with Nephrotic Syndrome, and since that time, we have been riding an emotional roller coaster. Christian started waking up with puffy eyes, and we noticed that his belly was getting bigger. We just thought it was allergies or that he was growing, but one night his belly was so swollen, he no longer had a belly button. We immediately knew something was very wrong. We were lucky, because the next day, Christian’s pediatrician was able to diagnose him with Nephrotic Syndrome.
At first Christian responded to Prednisone. He began to pee and slowly lost all of the water weight, but we quickly noticed the ugly side effects of the Prednisone; irritability, insomnia, hunger, and a round moon face. After one month of being on Prednisone, Christian began to relapse again. He was then put on Prograf in conjunction with the Prednisone. That worked for a while, so the doctors decided to wean him off of the steroids, and soon, he began to relapse again. It was confirmed that Christian had Steroid Dependent Nephrotic Syndrome. After being on Prograf for one year, Christian had six relapses, so we decided to try Cytoxin. Christian was able to bear with the Cytoxin for a year and only had three relapses.
Cytoxin is such a strong drug with serious side effects that Christian could only be on it for one year. So, in 2004, Christian began to take Cyclosporine in addition to the Prednisone. Cyclosporine was easy for Christian to tolerate but hard for us to keep his levels in the right range. He had to have his blood drawn monthly, sometimes 2-3 times a month, to make sure his levels were in the right range. Christian was able to take Cyclosporine for five years, but during that time, he had to be hospitalized three times. One time, he was so sick, he was in the hospital for two weeks and missed a whole month of school.
Currently, Christian is taking relatively low doses of steroids and has just started taking Cellcept. He is doing well, enjoys going to school and loves to play sports and his guitar. We feel blessed to have the care and support of wonderful doctors, family and friends. We hope that someday, the reasons and cures for NS and FSGS will be found so other children and parents will not have to ride the emotional roller coaster that comes along with having a loved one with chronic kidney diseases.
Ciana woke up about a week before she was turning 7 with severely swollen eyes and ankles. We took her to the pediatrician and were immediately sent us off to get labs. By the next morning we were told to pack our bags and head to the hospital where she would spend the next 6 days getting albumin and lasix treatments to treat her new diagnosis of NS. We had never heard of Nephrotic Syndrome nor did we know anyone else that had such a thing. Ciana was released from the hospital on the eve of the night before her 7th birthday. The following two years were filled with frequent relapses making Ciana steroid dependent and requiring second line medications to try to reach remission. In March of 2013 she had her first biopsy and received her official diagnosis of IgM Nephropathy. Around the same time we also found a combination of immunosuppressants (Prograf/Cellcept) medications that allowed her to decrease her prednisone, eventually weening off. In December 2015, Ciana suffered her first relapse in almost 4 years. We had attempted to ween the Prograf in November. We have now restarted the prograf and steroids again along with her cellcept and working to ween off the steroids again in hopes of maintaining remission again. Starting middle school and having to start on prednisone again (along with the cosmetic side effects) has been challenging but Ciana is a warrior. She still goes to school every day and despite the relapse has not missed any days of school and continues to play competitive soccer.
My name is Cody Gleeson and I am three years old. I live in Upstate New York with my parents, my twin brother Ben, and my dog, Ada. I wanted to share my story to help fund research for a rare disease that I have.
At the end of November and early December of 2010, my parents started to notice that I was puffy around my eyes at certain times. I went to the pediatrician a few times and we left believing it was due to an allergy of some sort. This is usually the first wrong diagnosis for a rare kidney disease. I have called Minimal Change Disease, which is a form of Nephrotic Syndrome.
On December 6, 2010 I was brought to the emergency room because my parents noticed I was puffy around my eyes and my stomach was a little distended. I was diagnosed with Nephrotic Syndrome. After that I began taking medications in hopes that would help my disease go into remission. My doctor was hoping that I would have Minimal Change Disease since there is a chance I can outgrow this.
I didn’t respond to the medications that most people with Minimal Change Disease do, so on January 12, 2011 I had a kidney biopsy. The biopsy was benign which is consistent with Minimal Change Disease, but I am still showing all the signs and symptoms of Focal Segmental Glomerulosclerosis (FSGS). Since biopsies are not definitive, I am being treated as an FSGS patient, this greatly reduces my chances of ever outgrowing this because it is more likely that I have FSGS rather than Minimal Change Disease.
Since then I have been to Children’s Hospital of Boston and I am continuing to be treated by a Nephrologist in my area. My doctor has found a medication that helps, but all medications for this disease have harsh long term side effects. FSGS is very hard to treat because there is no known cause or cure. That is why I have decided to make a difference and try to raise funds for the research of Nephrotic Syndrome and FSGS.
The NephCure Foundation is the only organization solely committed to seek a cause and cure for FSGS and Nephrotic Syndrome. They have been very active by continuing to generate awareness, facilitate free patient education seminars, and support several research initiatives. My family supports its efforts because of the organization’s association with renowned scientists from around the world and because of its dedication to fundraising for research.
Every year, patients are diagnosed with FSGS, which is the second leading cause of kidney failure in children. Treatment is trial and error. Most commonly patients are treated with steroid regimens and anti-rejection drugs, most of which have very harsh side effects.
Nephcure was founded by parents like mine to make more noise about FSGS and Nephrotic Syndrome and to raise money to support research. Please consider a donation in honor of me. NephCure funds research to find the cause, better treatment and a cure. Your donation will be put to good use. NephCure operates efficiently to maximize the effectiveness of your contribution.
Cole was a typical six year-old with an active life and a love of sports. Cole loved basketball, bike riding and anything that had to do with hockey. But in July of 2003, his life drastically changed. When he was diagnosed with FSGS, that summer our family spent days driving back and forth to the Children’s Hospital in Boston, praying Cole would get better. Cole only seemed to be getting worse however, as his body was not responding to the steroids the doctors prescribed.
Cole was at the hospital for weeks at a time, doctors hoping to achieve partial remission. After more than a year of watching Cole endure treatments, including daily 12-hour cycles of dialysis, I felt helpless. The entire family was struggling with the disease and we found it difficult to watch our once healthy little Cole suffer so greatly.
We decided that we weren’t going to lose hope. Friends and family created the “The Cure for Cole Committee” in hopes to move Children’s Hospital closer to a cure for FSGS. On June 18, 2005, we and nearly 1,000 friends joined together to walk for Cole. We collected over $150,000 dollars toward a cure for Cole and other children suffering from FSGS.
On October 4, 2005, Cole received a beautiful gift from his Aunt Cheryl – a kidney! Unfortunately, FSGS returned not long after that. In March 2007, Cole was placed on periotenial dialysis at home. His days have been up and down, but he’s still hanging tough. We are holding out for a miracle, for a cure. Cole is a fighter and we are confident that with God’s help, remission will not be far away.
Told by Cole’s mom, Kim
That Sunday evening, late in November, is one I will remember for the rest of my life. About two weeks prior to that night Connor became sick and the pediatrician started him on Amoxicillin. After 7-10 days he got better but something still wasn’t right with him. After a few more days, we took him back to the doctor and they put him on another antibiotic.
Then, that Sunday evening as I was getting him ready for bed, I just couldn’t believe how big he was. He is big for his age, but when I took his socks off, he just looked swelled up. He also had a red rash around his butt that told me something more was going on. My wife and I then decided to take him to the emergency room at Grandview Hospital. They are a great hospital staff and hastily tested him while making us feel very welcomed. The doctor came back and said his protein levels were high and that he wanted to get him treated at CHOP. We then knew this was getting serious. My wife and Connor boarded the ambulance late Sunday evening headed to CHOP.
I went home to be with my daughter, but came down to CHOP the next day. Connor was very swollen and there were a bunch of doctors in the room. I was in a new territory and very nervous. After hearing he had Nephrotic Syndrome MCD I really wasn’t that upset at the time because I don’t think I fully grasped how it would affect Connor and our family. The CHOP team was great, the hospital was very comforting for Connor, and we left in about a day later.
Since that November night, Connor has relapsed about 4 times. Our first doses of Steroids were the worst. I had to get on top of him one night because he was scratching and hitting himself. After a few weeks he started to calm down more but anytime we increase the steroids he gets very moody. We are now in his fourth or fifth relapse and once he goes into remission again he will start on Cytoxan (which I am very nervous about). I recently decided to really fight for Connor by educating myself, getting involved with NephCure, and trying to be a better father, husband, and neighbor. I am glad I met some great people through the NephCure forums and look forward to working towards a cure.
On September 17, 2010 DaNiyah woke up with puffy eyes. I took her to the emergency room and they said it was just her allergies acting up. They gave her Benadryl and sent us home. Two days later, DaNiyah woke up retaining at least five pounds of fluid. I took her back to the ER but they were not sure what was wrong with her.
After about nine hours, they decided to rush her to Johns Hopkins in Baltimore, MD. As soon as we arrived, the doctors took one look at her and said “She is in a Nephrotic state.” I had no clue what that meant at the time. It was almost like they were speaking a foreign language.
DaNiyah was admitted for three days and they ran tests on her blood and urine. The renal doctors came in and explained everything to me. We had to monitor her sodium intake as well as check her urine every morning. She also had to start taking prednisone.
DaNiyah had a laparoscopic kidney biopsy on September 29, 2010. The biopsy confirmed that she has Nephrotic Syndrome.
Since then, DaNiyah has only been admitted into the hospital once in October 2011. She has also been weaned off of the prednisone. By the blessing of God, DaNiyah is doing well! DaNiyah has annual checkups with her renal doctors and they are wonderful!
Destiny has gone through a great deal in her life and the road ahead does not look that great.
I’m so confused and scared and Destiny still doesn’t completely understand what’s happening to her or why. Destiny has been in and out of the children’s hospital this past year. She is doing okay but she is still struggling with trying to keep this under control. I wish I could take her place.
She is a wonderful, special child that should be enjoying her childhood and she can’t even have one. I’m a single mom with two sick kids and I wish there was something I could do. I wish I could do something special for Destiny to show her a nice time for a change instead of hospitals, medicine and shots. She deserves some happiness but I can’t afford it.
His Story: Donovan was five years old when we went to the doctor for his routine kindergarten physical on a sunny October afternoon. Nothing was out of the ordinary, but little did I know that our lives would forever be different after that visit. The next day, our pediatrician called and indicated they needed another urine sample because they found protein in Donovan’s urine. She wasn’t concerned and indicated that can happen in active children towards the end of the day. I picked up a cup to collect a morning sample per their request and dropped it off the next day. I honestly didn’t expect to hear from them again. But then, over the weekend, my kid who has never been sick, never been on an antibiotic at all was sick with symptoms that weren’t making sense to me. He kept telling me his stomach hurt but he was playing and eating fine. He missed an entire week of school because he would throw up in the morning but then be fine a few hours later. After a couple days, I called his doctor and asked for him to be seen. They diagnosed him as being constipated but also indicated they found not only protein but blood in his urine as well. Again, they wanted another sample. By this time, his stomach was swollen but assumed it was just because of being constipated. A few days later, he woke up so swollen that I knew something was wrong. I called back to the doctor and they wanted to see us immediately. After a bunch of tests, they sent us home with a promise to call by end of the day. When they called, I was broken. My son wasn’t supposed to be sick, this wasn’t something I could fix with a kiss and a bandaid. But I dried my tears and put on my brave face because I was not going to let this kid see my fear. I explained to him about the sodium restrictions and what that meant. That it would be hard but everyone in the house would follow the “Donovan Diet”. If he couldn’t eat it, the rest of us weren’t going to either. The next month, we started our first round of Prednisone. It works in that it sends him into remission quickly, but he doesn’t stay there long once he has tapered off. Now, a year later, what once used to be foreign to us is now our norm. We have been referred for a biopsy and we are waiting for our appointment for a second opinion. In the meantime, we are just doing what we do best–being a family.
Advice to other patients/parents: I write everything down! I have a notebook just for Donovan to keep track of everything NS related.
My name is Dylan and I am 5. In January 2018, I started getting tired lots and my face was swollen. My local doctor thought it was allergies or sinus problems. My Mummy didn’t agree and she took me to the hospital. While I was there, they told me I had Nephrotic Syndrome and that my kidneys spill out protein. Steroids didn’t work for me. The doctors looked at a tiny piece of my kidney called a biopsy and said I have FSGS. I have a really nice nurse that always makes me feel better. She’s called Mon.
Now I have been taking tacrolimus for a few months and my kidneys are lots better! We go see the doctor all the time to have my blood taken. I don’t like it, but my friend Claire looks after me. She is the play worker on the ward. I am not swollen anymore. Mummy always says she is very proud of me. I am very brave!
I would love to share our little miracle’s story. At the age of 21 months, our beautiful little angel Gabriella Rose (Elle) was diagnosed with minimal change after frequent relapses and multiple hospital visits.
Over the years, we were told to move to a warmer climate and that would help to keep Elle in remission. So, about three years ago, we moved to Pawleys Island, South Carolina. For the first year, Elle did great, then she starting to deteriorate.
We were basically living in the hospital 3-5 days a week. Every week, Elle was having treatments that consisted of high amounts of albumin and high dosages of lasix, 6-9 bottles a week. It seemed to help in the beginning, but then we were informed that Elle now had the kidney disease Focal Segmental Glomerulosclerosis (FSGS).
We were in dire need of a kidney! It all happened rather quickly. We had to find the right doctor and hospital. It was hard because we only had state Medicaid which made it extremely hard to have the best work. We tried having fundraisers and were not making much progress. Elle’s health was deteriorating.
I fought for my daughter’s life. I begged and pleaded on behalf of my little girl’s case. Finally, a miracle happened. I found a doctor that would take on our daughter’s surgery. His name is Dr. Marc Hardy. He was amazing and made all the arrangements for our little princess to have her kidney transplant that would save her life.
I always knew in my heart my kidney was a match for my daughter. I was right. So, on May 5, 2009, at Columbia Presbyterian Hospital, our little girl was saved! We had to remove both her native kidneys and she now has one of mine.
I thank God everyday for our miracle. I never take life for granted and we live each day to the fullest. Each day is a surprise for us. Gabriella has been through so much and I wish I could take it away from my little girl.
We also have another little girl, Sophia Marie, who three years ago, one week before her 4th birthday, was diagnosed with FSGS. I pray everyday she grows out of it. I feel like all I do is pray.
Diagnosis: Nephrotic Syndrome at 3 years old
Favorite low sodium snack: Trader Joe’s popcorn
Hobbies: twirling, crafts, & playing with friends
Your Story: When Emma Kate was almost 3, we noticed her swelling. She ended up getting sick for days and not eating or going to the bathroom. Thankfully, her doctor was in tune to what I told her, because she called us back in and somehow got a tiny urine sample. The sample showed 3000+ protein spill, with pitting edema. We went right to the children’s hospital. The next several days were without a doubt some of the hardest in our life. We learned about nephrotic syndrome: it’s mysteries and unknowns.
We were so blessed to see her respond to steroids and go home. However, every 6 weeks, she would start to spill again. It was up and down so much that her doctor mentioned putting her on something year round to prevent a relapse. As her mom, I was very against this, as I just wanted her healthy and off meds. I began to search and try everything natural I could to “cure” her when she spilled. And a couple times it worked! That’s when our story turns to hope.
Along my journey of researching, we decided to try a gluten free and dairy free diet. She never had any allergies before she got sick that I was aware of, but once your body is inflamed it can react to anything. I knew it would be a life change to alter her diet like that, so I opted for delayed allergy stool testing. She reacted to all 4 categories (eggs, wheat/gluten,dairy, and soy).
She was on steroids at the time, and they said it might show no reaction. But it did, and we were shocked to see gluten (normal range less than 10) was over 350!!! We started to intensely heal her gut and remove all allergenic foods from her diet. After about 6 months we added them all back in except gluten and she has been in complete med free remission since! And that was over 2 years ago! I know our story is so different than many others and I know we are beyond blessed. I hope it will encourage others to explore other options though, and maybe find the trigger.
Advice to others: Don’t give up!! There are many natural cures found through diet change, and supplements. It does not work for everyone, but you never know until you try! I created a blog along the way to post details of our journey. Check it out, at: www.livefreenephroticsyndrome.blogspot.com.
Life Motto: Nothing is impossible—the world itself says, “I’m possible!” (Audrey Hepburn)
In August of 2010, Emma’s eyes and legs started to swell. She went to many doctors who agreed that she had signs of Nephrotic Syndrome (NS) and in October of 2010 at the age of 16 months, Emma had a biopsy to confirm that she had NS.
She required a medi-port be placed in her chest to reduce the amount of times she would be poked for blood work and medications. In the same month, I decided a second opinion was needed before any other life changing drugs would be given to Emma. So we packed up and she was transferred to Texas Children’s Hospital located in Houston, Texas.
She has needed many infusions and has never been able to come off of Prednisolone. Her last hospitalization was many months ago and luckily she has not needed any infusions for a few months now.
Emma’s disease has changed not only her life but our entire family’s life as well. We continue to help her fight this disease and do all we can to help raise money for research in hopes of finding a cure for her and everyone who deals with this disease. We take her disease one day at a time with the hopes that one day we will be able to say Emma is medication free.
Told by Emma’s mother, Diana.
I was born August 4, 2015 by emergency c-section and spent four days in the NICU. No one knew I was sick until 2 months old. I’ve spent most of my life in the hospital and just recently have started to spend more time home. When my kidneys began to fail I had both removed at 5 months and became dialysis dependent. I’ve had 5 surgeries to date, too many blood transfusions and albumin infusions to count. I’ve switched from Peritoneal at home to Hemo dialysis in clinic. Currently I’m on Peritoneal at home. I take many medicines every day and eat a speciality formula to keep my levels right where they should be. I may be 1, but I’m the size of the average 5 month old. Don’t let my size fool you though! I may be small but my attitude is large! I’m trying really hard to grow to 10 kilos so I can receive my kidney!
Update on Emmie
She was diagnosed with Congenital Nephrotic Syndrome at 8 weeks old and spent most of her first year in the hospital due to numerous infections, surgeries and procedures. She had both kidneys removed at 5 months old and has been on dialysis since January 22, 2016. She currently needs around 2 kilos before she is eligible for a transplant. But none of this has crushed her spirit. She is such a funny, goofy little girl. And although she’s about to be 2, she is the size of a 10-12 month old. Her size may be small but her attitude is big! We’ve had to watch her go through more in her time than most adults. It’s not always easy, and at times has been terrifying, but she’s destined to do big things! We take life one day at a time and know tomorrow is never promised.
Over the course of the years in dealing with chronic illness, all the varied medications, hospitalizations, appointments, biopsies, surgeries, unknown fears and constant tears, my sons and I have struggled to keep our spirits up and try to accept the challenges that have been placed in front of us. We know the doctors don’t have all the answers and we know as parents, caretakers, and loved ones, we can’t provide the answers either. However we continue to hope and pray that a cure will be found for families affected by Nephrotic Syndrome and FSGS.
At 18 years old, Eric relapsed after nearly three years in remission.
It is my sincere hope that as Eric moves into his young adulthood, he will better understand and motivate himself to continue to do what is necessary to live healthier. I remember asking the doctors throughout different stages of Eric’s life, what can I expect now? Will this disease continue to trouble him psychologically and emotionally?
I’ve seen Eric at his best and certainly at his worst, but I’m confident forevermore that a cure will be found and he will have a “normal” life. I know he’s scared and its okay, but I also know we will get through this as a family and continue to keep our faith and encourage other families along the way.
Our son, Ethan, was diagnosed with Nephrotic Syndrome in October 2012 when he was eight years old. We noticed he had gained some weight but attributed it to him finally putting on a few pounds as he had always been very skinny.
Our third child had been born just a few weeks prior so we were in a bit of asleep deprived haze at the time! One night he complained of painful urination and his pelvic area looked bloated. We took him to the doctor expecting him to have a urinary tract infection and were surprised to learn that Ethan had very high proteinuria. This was the first time we had ever heard of Nephrotic Syndrome and had no idea what challenges lay ahead.
For a brief time, we were blissfully unaware that this was not a “quick fix” situation. A few days later, his blood results confirmed that he had Nephrotic Syndrome most likely caused by MCD. As his albumin level was only 10 g/L, he was hospitalized for a transfusion.
Thankfully, after a week on high dose Prednisolone, his proteinuria and edema started to come down. He looked gaunt and malnourished which was a shock to all of us.
He continued on a daily high dose of Prednisolone for six weeks and then we started to taper. His first relapse happened at 35mg alternate days and he never managed to get lower than that. Over the next few months he had seven relapses, mostly associated with mild illnesses.
Each relapse seemed to take longer and require higher doses of steroids to get into remission and it became clear that he was steroid dependent. Hesitant about trying stronger second line drugs, we tried levamisole but had no success.
We tried to eliminate major allergy triggers from his diet (gluten, egg, dairy, citrus, and eventually all grains) and also explored alternate herbal therapies (turmeric, high dose omega 3, etc.). Unfortunately, he still continued to relapse just as badly, if not worse.
In July 2013, he was admitted for another albumin transfusion. At this point we decided to do a biopsy and start him on cyclosporine. Much to our relief, the biopsy confirmed MCD. There were tears of joy from both of us as we heard the diagnosis and we appreciated that he was one of the luckier ones.
Prior to MCD, Ethan had chronic abdominal pain which was amplified by his new condition. Treatment for his abdominal pain ran in parallel and led to two hospitalizations, IV antibiotic treatment for potential peritonitis, an endoscopy and gastroscopy, CT scan, triple therapy for Helicobacter pylori eradication and very low iron levels. These added compilations left him weak and pain sensitive. Thankfully his love for playing, planning and talking about the video game Minecraft allowed him to keep a positive mindset and cope with the pain.
After his biopsy, we started Ethan on cyclosporine and diltiazem and he has recently completely tapered off prednisone. These drugs have made a world of difference for Ethan and he is currently stable. He is also on a gluten-free diet and takes probiotics and spirulina alongside his other supplements.
We are very grateful to Professor Yap at NUH in Singapore for her dedication and care for children with kidney diseases. Her knowledge and compassion have made a huge impact on our family and Ethan’s health.
This past year, our two other children have been an amazing source of support and stress relief for us all. Our thirteen year old daughter, Ella, has helped us all to keep a positive outlook and has been immensely supportive of her brother.
She did not hesitate to agree with our decision to cancel our annual summer trip as Ethan’s condition was very unstable. She also happily joined us all in the dietary changes, adopting a Paleo diet alongwith the whole family. Her brother’s illness has fostered her newfound love for science and she now is keen to go into medical research to help find a cure for diseases like Ethan’s.
Our newest family member, Neo, who was just three weeks old at the time of Ethan’s diagnosis has been a happy distraction and a source of amusement for us all. His cheeky smile and playfulness have delighted us all and kept us smiling even through the rough spots.
Update on Ethan
Ethan was diagnosed at age 8, just a few weeks after his little brother was born. We were in a bit of a sleep deprived blur so we didn’t notice Ethan’s edema at first. We had never heard of Nephrotic Syndrome and were lucky that our GP referred us to a Nephrologist right away. The next year was full of relapses for Ethan and he was labelled steroid dependent. We tried diet changes, high dose turmeric & other natural supplements, acupuncture etc before accepting the reality that he needed to go on a second line drug. He was on Cyclosporin for 2 years with great results. Since then things have been rocky. He stopped responding to Cyclosporin, MMF didn’t work and now Tacrolimus is also not working. His next step will be Retuximab. We are hoping he can finally get a good stint medfree!
“What are you feeding her?” was a question I heard often about our three year old daughter, Gianna. After numerous visits to the doctor for her distended stomach and swollen eyes, I finally knew my intuition was right. I had scheduled a same-day appointment for a cold with her pediatrician. I felt unfortunate that her regular doctor wasn’t in, but this turned out to be a blessing in disguise when we agreed to see another physician in the group. When we were wrapping up, he asked me if I had any other concerns, and I commented under my breath as usual about her stomach, and informed him that her regular doctor said it was just baby fat. He proceeded to touch her stomach and make the observation that it was hard as a rock. After speaking to him more, I pointed out the swelling in her eyes, which we had been told was allergies. He took a urine sample, read it immediately in the office, and noticed the high levels of protein. He gave us numerous causes, and referred us to Children’s Hospital in Oakland, CA.
When we first met with the nephrologist, she explained to us that Gianna,has Nephrotic Syndrome. The initial protocol was to treat her for Minimal Change Disease. If we saw no improvement, after beginning Prednisone, then we would schedule a biopsy. After a week on Prednisone, our daughter’s weight was up to 50 pounds. Remember, she was only three years old. Her stomach had gotten so huge that she couldn’t even walk. She couldn’t get herself up on a chair. I continually made phone calls to the doctor’s office, where I was told this was all normal, and was reminded that the Prednisone would cause weight gain. One morning she was lying on the couch, and I noticed her breathing was labored. I told my husband that I am taking her to the emergency room despite what the doctor was telling me. I knew something was wrong.
When we arrived at the ER the doctors were in shock at the size of her stomach. Her nephrologist was called in, and was also shocked. I reminded them of all of my phone calls — and received no response. They took her vitals and found that her blood pressure was elevated. That night everything went downhill. Her vitals went through the roof and she was moved to the pediatric ICU where they sedated her and began to drain fluid from her abdomen via huge syringes. We came to find out she had a severe case of peritonitis that was out of control at this point. Her breathing got worse, and regular oxygen treatment wasn’t helping her. Within 48 hours she was intubated and placed on life support. She was kept sedated 24 hours a day. She was placed on 24 hour dialysis as well. Her breathing didn’t improve, so she was placed on an oscillator. The pounding of the machine was terrifying. That didn’t work as well. They told is that the fluid had invaded and taken over her lungs, and that there was only one other thing they could try, it was a machine called ECMO, Extra Coporeal Membrane Oxygenation. Side effects of the machine were numerous.
They called us in a small conference room, explained that our daughter could “die” and this was our last hope. When I told them that was not an option, I believe they all thought I was in some sort of denial. But I knew in my heart, which is where the Lord lives in me, that she wasn’t going anywhere. She just needed more time. While she was on ECMO, I read to her, sang to her, put a Walkman on her with her favorite songs. I declared to all visitors that no tears were allowed. Those were to be kept in the waiting room. I felt like I was living in a movie. We slept by her side and my mom flew in from New York for support. She endured biopsies of her kidneys, dialysis, chemotherapy, surgeries to implant catheters, seven total, and all in the ICU, as they were afraid to transport her to an operating room. Every day I would look at her chart, and see the words “critical” written on it.
At the time ECMO was a very primitive machine. It looked like something that someone would put together in their garage. The machine pulls the blood out of your body, and oxygenates it, and then returns it to the body. She had two large cannules surgically placed in her neck at the main artery. She wasn’t to be moved what so ever, due to the cannules. She actually endured the surgery twice, as one of the first ones inserted developed a kink.
Miracles began to happen shortly after. She had been on ECMO for three days, when they said her lungs had received the necessary rest, and now she could go back on the oscillator. This was a small victory, but one we would gladly take. A week later she was then moved back down to the ventilator — another step in the right direction. Throughout all of the issues with her lungs, they were still trying to diagnose her kidney disease. Finally we received results of her biopsy, which confirmed genetic FSGS. There was no cure, and she was in renal failure. She was on 24-hour dialysis, and they now were considering placing her on hemodialysis, which was a faster cycling machine. We were making some progress. She was still on the ventilator, but because she was no longer on 24-hour dialysis, they were able to take her out of the heavy sedation. It had been a month and a half since I had seen my baby’s big brown eyes. Her next surgery was to place a peritoneal dialysis catheter in her, as well as perform a tracheotomy, in order to transition her from the ventilator to breathing on her own again. She had also been being fed by a g-tube in her stomach. She was placed on the kidney donor recipient list as well.
Then we started seeing one miracle after another. After two months of no function, her kidney’s started to work. It gave new meaning to the “pee pee dance!” We were ecstatic, and the doctors couldn’t explain it. We waited patiently to see if they would continue to function — and they did. The dialysis catheter was later removed. Then the trach was removed. She squeaked out the word “mom” for the first time in over 2 1/2 months. Her muscles had completely atrophied, so we had intense physical therapy sessions twice a day in the hospital, as well as speech therapy due to the fact that she had been intubated for so long. We began feeding her liquids as she regained her swallowing mechanism. We were beginning to see our baby girl find her way back.
We lived at the hospital for three months. I never left but once on Mother’s Day when my amazing husband planned a day with my girlfriends for me. I never stepped foot in my house for the three months and was determined to not do so, until she came home with me. My husband went home twice in the three months, to get his laptop so he could work from the hospital, and to pick us up some clothes. Living in the hospital became a way of life. My mother and I shared one twin bed, and my husband slept in one. The beds were located in a utility closet. All of that didn’t matter though. All that did was for her to know that we weren’t leaving her, and we would never give up.
Finally the day came when we were given the light at the end of the tunnel — when she was able to walk 50 steps, they said she could come home. She could hold one of our hands while walking. We knew we would have to carry her around a lot at home, as well as up stairs, but it didn’t matter. These 50 steps were the most beautiful steps ever!
People often times ask us how we survived such a horrific experience. It was with faith, family and friends that we managed. The constant visits, meals, fundraisers, cards, gifts, and phone calls were amazing. When we returned home, they thought her kidneys would last for no more than a year, and we are happily going on five years now. There is no cure for what she as, and kidney failure is inevitable. We have a best friend who has unselfishly stepped up to be her donor (Gianna was internationally adopted and neither my husband nor myself would be suitable donors) and when the time comes we will meet it head on. Throughout our hospital stay we developed a wonderful friendship with one of our nurses which only gets stronger as the years go by. We keep in contact with many of the hospital staff, and let them know of her progress regularly.
Gigi currently takes 12 meds twice a day, as well as endures injections or “pinches” as she calls them, at home. She has her blood drawn frequently, but is a real trooper. Because there is no cure, her meds control other items that the kidney’s effect. For example, her thyroid, her cholesterol, her iron, etc. Despite her medicine regimen, she functions like an average child. Her kidney function is currently between 30-40%, and has been slowly decreasing over the past five years. Doctors have told us there is no way to determine when they will fail. We have chosen not live in a constant state of fear, but a state of gratitude. We tell her that everyone has something, some people wear glasses, some people can’t walk, some people can’t see. We remind her that what you have is not who or what you are.
People have said to us that they couldn’t have endured what we did. In hindsight, although it was the worst time of our lives, it has taught us more than we could have ever imagined possible. It has taught us what true unconditional love is, not the kind you read about, but the kind that you feel in your heart. It has strengthened our faith, our marriage, and our family. It has made us slow down and savor the small things in life that often go unnoticed. We hug one another a little more, smile at strangers that we often would overlook, and give a lot more. We were one of the lucky families, while many children with this illness are not. We don’t ever take that for granted, and remember every day that our daughter truly is a miracle.
It all started in 1995. At the age of five, Gianna’s urine showed protein and blood. We were told she had Minimal Change Disease and for the next six years I focused on Chinese medicine, alternative medicine and ace inhibitors. Gianna continued to spill +3 protein and I didn’t want to play guessing games as to what drugs she should or shouldn’t take.
I read that different types of kidney diseases required different medications. I thought it was time to request a kidney biopsy. After the first biopsy in 2001, we were told Gianna had IgA Nephropathy. This did not require prednisone, so we continued along with ace inhibitors.
Three more years passed and still +3 protein. So, we went for another opinion. Gianna was then 13 and the doctors suspected the worst. They recommended high doses of prednisone, only to find she is resistant. A second biopsy was preformed in 2004 to confirm our worst fears – it’s FSGS.
Two years later, at the age of 16, Gianna’s kidneys failed and she started dialysis. Then, at the age of 18, she was blessed with a transplant. However, within a week the disease was back.
Today, Gianna is still battling this disease. She has taken rituximab, galactose and many other drugs. At 20 years of age, she attends college and refuses to allow FSGS to run or ruin her life as we all continue to fight this disease head on.
As her mother, I can only learn thru Gianna and keep my strength. We give to NephCure because they have been apart of my life for seven years, continuing to guide me and help open new doors, which leads to new ideas and hopefully the answer to stop this disease.
I will forever be grateful for NephCure’s passion, knowledge and dedication.
Thank you, Joanne (Gianna’s mother)
When she relapsed at 40mg, it made her doctor very nervous. The doctor scheduled her for a kidney biopsy over Thanksgiving, which showed some damage at the tail end of the sample, but not to the glomeruli. It affected the interstitial tissue, and they have no answer as to what caused this or why. The doctors have not been able to give us a definitive diagnosis because to be we cannot provide them with the proper samples to diagnose her with Minimal Change Disease, but we know she does not have FSGS either.
The doctors now want to put Greer on cytoxin, which we initially agreed to, until we found out that we have to wear gloves and a mask in order to break the tablet. This caused my husband and I to wonder why we would have her ingest something that is so dangerous for us to handle. We felt like we would be giving her poison if we did that, but her doctor wants to do something to get her into remission to get her off of prednisone.