Pediatric Stories A-G

Blake’s Story

Blake was diagnosed on October 17, 2012 (just one month before his third birthday). We had no idea how our lives would change that day.

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!

Brady’s Story

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.

Carmen’s Story

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.

Cassidy’s Story

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.

Cecily’s Story

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.

Charlie’s Story

In August, Charlie woke up with extremely puffy eyes. We thought it was an allergic reaction, and she had a five year check-up that day so we waited until her doctor’s appointment to get it checked out. At the doctor’s office we discussed seeing an allergist to pin point what the allergy was from. Her pediatrician wanted to do a urine sample just to be sure it wasn’t anything else. He explained that Charlie was spilling a “ridiculous” amount of protein in her urine. After more blood tests and urine samples we were referred to Mott Children’s Hospital at the University of Michigan in Ann Arbor. There she was diagnosed with Nephrotic Syndrome and immediately put on a steroid. After two months on the steroid, she was still spilling a lot of protein and she was scheduled to have a kidney biopsy. The biopsy showed her to be steroid resistant and diagnosed with FSGS. She is currently on Cyclosporine and a blood pressure medicine while being weaned off the steroid. We are lucky that our girl is still her smiley happy self despite all the medications, blood draws, and daily urine checks. We are very grateful for Mott Children’s hospital and our pediatrician for his intuition in recognizing a potentially more serious condition.

Chelsea’s Story

My wonderful little angel, Chelsea, was diagnosed with Nephrotic Syndrome at the age of five in 2005.

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.

Christian’s Story

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’s Story

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.

Cody’s Story

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’s Story

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

Connor’s Story

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.

DaNiyah’s Story
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’s Story

My daughter, Destiny, was diagnosed with FSGS when she was 10 years old. Though her issue is her kidneys, she has been treated for allergies for more than a year and a half. She recently turned 11.

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.

Donovan’s Story 

Age: 7
Diagnosis: Minimal Change at 5 yrs. old
Favorite low sodium snack: Grapes and pears
Hobbies: Loves watching wrestling!
Fun Fact: He can imitate any TV character in voice and mannerisms

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.

Drew’s Story

Too many relapses to count, but my nanny keeps me going. She says we are gonna kick this disease in the butt! She makes me happy when I have relapsed.

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.

Emma’s Story

Age: 6
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)

Emma’s Story

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.

Emmie’s Story

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.

Eric’s Story

In 1995 at the tender age of 1 1/2, Eric was diagnosed with Nephrotic Syndrome and our entire lives changed.

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.

Ethan’s Story

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

Gianna’s Story

“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.

Gianna’s Story

My beautiful daughter:

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)

Greer’s Story:

My daughter Greer was diagnosed with Nephrotic Syndrome in January 2009, and she has been on prednisone ever since, with the longest remission lasting two weeks.

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.

Back to TopNext