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
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