Abby and Quinn's Story

Our Diagnosis Story

I've given birth to 6 children now. The day a new life joins our family is a day full of emotions. After the pain comes the joy. I have spent months worrying about this life inside me, hoping that everything will go well and they will be healthy. When they are born there is also such a relief. 10 fingers, 10 toes, a healthy set of lungs, and a clean bill of health from the Doctor.

Life goes on, and my newborn quickly grows as we learn about their sleeping habits, their quirks, and their personality. Some days are hard, as any Parent can understand, but the days are full of joy as well. 

Then the unthinkable happens. A year or two down the road, you start noticing worrisome changes. Frightening really. You realize that the healthy baby you had back in the hospital, really wasn't healthy at all. Their body was just keeping the truth from you, for a time.

The first time this happened with Abby, she was almost a year old. I went to change her diaper and as I opened it up, there were black streaks every where she peed. I remember she had a fever, but I was scared out of my mind. I took her to the E.R. that night. After a nurse speculated "maybe it was something she ate", the eventual diagnosis ended up being a Kidney Infection.

Thankfully, our pediatrician at the time had a lot of experience dealing with this type of problem and set us up for more testing and a visit to a Urologist. This started a very long road of catheters, (poor girl), urine checks, medicine, Doctor visits, and eventually surgery. The VCUG was a traumatizing test that let us know Abby had Kidney Reflux. After her second Kidney Infection in a month, we decided it was time to do a less invasive procedure to hopefully fix it.

I had such high hopes, oh... I knew we would be alright. When we did the next VCUG to see if the procedure had fixed it, I was devastated to learn that it did nothing. The only thing left was to put her on daily antibiotics to protect her kidneys from infection. Oh the irony! 

About 6 months after her first kidney infection, Abby woke up with green urine this time. I remember it clearly because the Nurse said she was just being festive for St. Patrick's Day. I hadn't even realized it was one of our favorite holidays that day. I assumed her green urine, streaked with black was the same as before. Another kidney infection. I was confused because she was on antibiotics, but maybe she was getting a resistance to them. We left the office with a new prescription that left her constantly nauseous. A few days later we got the call to stop the new medicine because she didn't have an infection. The culture came back normal. 

This problem persisted again and again. You can't not go to the Doctor when your child is having brown and black streaks in their diapers. They would give her a catheter and collect urine, and again it would come back that she didn't have an infection. By now Abby was 2 and was grabbing herself in pain every time she had to go to the bathroom. My Urologist shrugged his shoulders and said he had no more ideas. 

I guess I could go into more details of terrible doctors, but I will spare you the details. After I started seeing a Nephrologist (Kidney Doctor), I decided to get urine test strips and start documenting everything. I got her to collect samples so we didn't have to do catheters anymore. Everyday I would test her urine. Every time, the blood in her urine was too dark to even be listed on the bottle. She had protein a lot of the time and I started noticing something else. When her pH was low, she would actually pee out tissue! She was peeing out the lining of her bladder. I sent those samples in to the Doctors, and they had nothing to say. Eventually the Nephrologist got to the end and said he had no more ideas as well. 

I thought I would try Children's Hospitals next. I called one in Utah that was well known. After I talked to the Nurse about my observations and fears, she called me back and said all the Doctors would not look inside Abby. They wouldn't help her because she was too young. At my utter discouragement, I decided to call my first Urologist and tell him what was happening. He reluctantly decided that he would put her under and do a cystoscopy to see if anything was going on. 

While Abby was in recovery, he came out with pictures to explain what he saw. The first thing that came out of his mouth was, "Well you aren't making this up." ... DUH! Her Bladder had disfigured. Instead of being oval/round, it was in the shape of a horseshoe. There was a bulge on the bottom pushing everything up. The lining of the bladder had rolled and was open in a spot and was bleeding. His grand diagnosis, Constipation. He said he had never seen anything like this. I asked if it was normal for constipation to cause this, His answer, "No". 

All of these reasons were why a true diagnosis, of why there was blood AND protein in the urine, could not be found. We were side tracked and confused because she had a lot more going on. Every now and then a new puzzle was added to the mix. We tried a Hospital in California hoping to get answers. Again, nothing. 

Sometimes things have to go downhill in order to go back up. We had just moved to a new state and withing a month, Abby had another Kidney Infection. There was no reason for her to have one. She had been on daily antibiotics for years now, but alas, she got one. Have you heard the phrase "Tender Mercies"? We were supposed to be on a 3 month probation before we could have insurance. Kevin's new boss had just met with him and told him they were pushing it up and he could have it after a month of working, instead of 3. Tender Mercy. We just got the card in the mail when she got the infection. Because we were so new and on probation that first month, we hadn't chosen a Pediatrician yet. I called a Children's Clinic and took the first appointment with the on call Doctor. He treated her as normal but wanted details of her past, and scheduled a follow up. At her follow up appointment he wanted to figure out what was wrong. He had ideas but really wanted us to see a specialist. He wasn't accepting new patients, but because he helped us already, he agreed to keep seeing her. 

A month later, Quinn (my youngest at the time) woke up with streaks in his diaper. I had that same reoccurring moment of realization and devastation, that my once healthy baby, was really not healthy. This time, he never had an infection, yet he had a fever. I was so confused. A kidney infection is both. We learned by observation that when Quinn was sick with something like a cold, his urine got dark and left streaks, but he didn't have Kidney Reflux like Abby. 

Finally the day came for the referral to Utah to see the specialist. I had all records, all x rays, all blood work. I even wrote down a full page of information for the Doctor. I met up with my mom for the appointment and what she said shook me to my core. She said, "Natali, I know Abby seems worse, but I feel like you are missing something even worse with Quinn. You have to find out what is going on with him. Don't ignore it just because he rarely has the problem." I don't know how she said it, but she even mentioned she would give her kidney to him. I don't know how she knew.

Is it really shocking to you that this specialist appointment fell flat again? After more tests and the traumatic VCUG again, they eventually said, "Sorry, we can't help you." I went back to my pediatrician discouraged and he was actually happy. He assured me that this was a good thing that we eliminated them and he was going to send us somewhere new. I let fate take the wheel and let the receptionist tell me which Doctor I was going to see. After a new set of blood work and tests, we were finally ready for the appointment. 

This time was different. The Doctor wasn't just a one time stop to nothing. He had ideas, and more, he assured me that we would figure this out. He wanted to see us back, he wanted to monitor them, and he was concerned for me and the kids. Dealing with him and my pediatrician left me feeling HOPE, something I never left the Doctors feeling. For years I had nothing but fear and worry and dead ends. I tried to search for hours online hoping I could find answers that never came. I figured if I just read one more medical study, maybe I could figure it out. 

My pediatrician's guess was IGA Nephropathy. In that first appointment our Nephrologist said it was a possibility and he mentioned an X thing. I read about IGA and I didn't like that it said it ~might~ end up with kidney failure. I was hoping it wasn't that. I always assumed it wouldn't be that bad. I was just doing my job and not ignoring the problem. The only way to know for sure is a kidney biopsy. He doesn't like putting kids through that and his theory is that you only biopsy when you are ready to treat. If kidney functions are good, then there is no need for treatment, therefor a diagnosis can wait until it is necessary. 

This began our monthly testing for kidney functions. You have to catch their first urine of the day (which is hard with a baby in diapers) and then do blood work. Can we take a moment of silence for all moms who have to hold their traumatized child down for blood work? Yes, at the worst of all this, Abby and Quinn didn't want me at home when they cried. They wanted Dad. 

Functions were showing that even though Abby's urine looked more visibly worse, her numbers remained in a low range. (It is quite something when a Doctor who sees urine everyday, says your daughter's pee looks frightening.) Quinn, on the other hand would go from low to borderline severe when he got colds or other sicknesses.

I got the call from the Doctor finally. I shut and locked my door so I could hear him. He let me know that it was time to biopsy. He still couldn't make up his mind on who to biopsy. Abby was older and that carried fewer risks, but Quinn's numbers were worse. Before we got off the phone I asked him, "What was the name of the X thing you keep mentioning?" He replied, "Alport Syndrome". I hung up with him and googled it. 

As I read, everything fit this time. It fit so well I started crying. I just knew. I knew that this was what it was. I read that their kidneys WILL fail. I stopped for sometime as I cried and wiped my eyes. Then I read more and read that they will lose their hearing. I cried harder and tried to read more through my tears and saw that their eyes might be affected. At this point I shoved my keyboard forward and went into the bathroom and sobbed. I tried calling my husband, Kevin. He kept trying to calm me down and, being the optimist that he is, he tried telling me that they are going to be fine and to not worry. "You shouldn't get upset about what you read online." I am sure I got upset with him for saying that. 

I don't remember what happened an hour or so after that. I know I shut off the computer and walked away. After all the years of searching, I finally had my answer and I was mad. Pissed off, and depressed. Day 2 was much the same. Eventually I always come to the same conclusion when I feel this way. No amount of crying or feeling this way is going to change anything. There is no point to it and I can't go on like this. By the 3rd day I just kind of threw my hands in the air, figuratively speaking, and just said, "Whatever. This is the stupidest thing in the world. I'll wait to know for SURE." 

We prayed that the child who needed to have the biopsy would be chosen by the Doctor. We felt it was Quinn but didn't want to push or persuade him. We wanted the Doctor to choose who he felt needed it more and weigh the risks carefully. He did decide to biopsy Quinn and set it for December, since we had already met the deductible that year.

That story is for another day, but we got the results 2 days after Christmas. The Doctor didn't want to spoil our Christmas with the news that Quinn has Autosomal Recessive Alport Syndrome. One of the filters in his kidneys (there are 3) is not even there, and the other 2 are thin and are in different stages of repair. This is why the kids leak blood and protein when the pee. Their kidneys can't filter it all out, and it is the continual repair that leads to scar tissue and eventual failure. 

It didn't take me long to find support groups online. That has helped me so much. I can talk to mothers going through this, we can ask questions, and I get to hear from other people who have gone through kidney failure, but are still living a full life. I've feared that kidney failure was an "ending". I am learning that it is just a different way of life. God has placed me on a path. I might not have had half of my children if we had found out the answer when Abby was younger. It wasn't time back then. I can see that now. He has given me, what I call "my life saving team", the kids's Doctors. Without Abby getting an infection and getting our on call Doctor that day, I would still not have answers. He has placed people in our lives, my earthly angels, who lift us, love us, and comfort us. I can now see His help though all this and it gives me hope for the future.


This article was published in the book, "When a Diagnosis Changes Everything: A Collection of Stories from Mothers of Special Needs Children". Click Here to Purchase the eBook.


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Why My Family Stopped Eating Margarine

I remember years and years ago, all the way back when Abby was about 18 months old. We were back in the Doctor's office, again. This time she had green urine. I remember the Nurse joking that Abby was just trying to be festive. It was St. Patrick's Day that day. In reality, I was frightened. No one could explain what was wrong with my daughter. This day was the day that started years of problems outside of her usual Kidney Reflux we had dealt with the previous 6 months. This time her culture came back negative. The Doctors always shrugged their shoulders and went on to their next patient.

Fast forward years with constant urine checks, medicine, blood draws, tests, and appointments. I was a pro at handling 5 kids in the Doctor's office, but we still didn't have answers.

My husband was outside one day, talking with a neighbor and the talk of kidneys came up. Our neighbor's relative was having medical problems and went to a local Doctor and it really turned things around for him. I was hopeful that this was it, and the price was an added bonus. I excitedly made the phone call and set up an appointment.

The day of the appointment came, and I had no idea what to expect. Were we FINALLY going to find out what has plagued Abby for so long? Were we going to figure out how to fix it??! I drove slowly as these thoughts turned over and over in my head. When we got there, we walked down a dark hall to get to the office waiting room. I filled out all the paper work and anxiously waited our turn.

We finally got called back into the Doctor's personal office. He explained that he was going to do a Live Blood Analysis on Abby. A live blood test shows the blood cells magnified. Their shape, coloring, movement, transparency, ect can show whether they are healthy or not. Naturally Abby was terrified and cried, but it was a simple finger prick and then he showed us on the monitor and explained what he saw.

In one picture he showed that he could see something kidney related going on. He didn't know what exactly. In another picture he showed that she might have an autoimmune disease. A little piece at a time, I realized that today was not the day for answers. Just more questions. (Always more questions). One of the things he showed us, is the picture below. The Margarine in her blood!

You can see the blood cells on the slide, and in the middle is this blob that has to be larger than 10 cells combined. This was the one thing that shook me as a mother. This was directly from me. She doesn't go to the store and choose what we eat. I choose those things. I had no idea. Nothing. I was clueless up to this point. I had no idea that what I was feeding my kids was adding this, on top of everything we were dealing with. 

I remember driving home with feelings of disappointment, that again, we had no answers. Would they ever come? Two years earlier, Abby started peeing out the lining of her bladder. We were getting tissue in the urine samples we were sending to the Doctor's. I shed a few tears on the drive, but one thing was solid in my mind. Margarine was out! 

At the time I wasn't sure how it would work. We were tight on money. I wasn't sure if we could really afford butter. Just being honest here. There is no going back after seeing that, what you are feeding your child is going to their blood, and staying in there. My husband agreed with me and was horrified as well. I remember telling him that the health problems were out of our control, but this was one thing that we were responsible for. Despite being ignorant about it, or thinking that what you eat just digests out, we were still responsible. 

We started changing the way we ate. I spent extra time in the stores, reading labels and pricing out what we could afford. My goal is to have my food as close to nature as possible. I don't want my food designed in a lab. I try to make things homemade as much as possible. I try to find food without preservatives and additives. I still have a long way to go, but I do it one baby step at a time. 

For those wondering about Abby and her medical problems, we eventually got one answer, Alport Syndrome. She still has more going on that we haven't figured out with her bladder. Quinn and Abby were diagnosed with Autosomal Recessive Alport Syndrome 4 years ago. 

Life is Hard, Life is Good

Imported from the family Blog

December 11, 2007

"Today Kevin and I took Abby in for another VCUG. These tests are horrible. They put a catheter in and inject her with dye. Then they strap her down on a board while they run the tests with this big machine. It is so scary, especially for a baby. Her results came back and her kidney reflux is not gone. I was hoping last night would be the last time we had to give her the antibiotics, but I guess that day will come much later. She has to take them everyday. It is hard to not feel like the surgery was pointless and she had to go through it all. She cried and cried after we were done and was still sniffling in the car. We went and took her for ice cream which she loved."

Oh how I wish it were that simple now....

I am not sure it is time to delve into Abby's Medical Journey right now. It has been a long road to just find answers to problems she deals with, and now that we know the answers (Alport Syndrome) we still have a long journey ahead of us. I am grateful for our lives, happiness, and fun times. Despite what's ahead, life is good.