English
As told by Shannon Shelton Miller
My story actually begins with my mother’s health issues. When she was a child, she became seriously ill and no one could understand what was happening to her. In March 1979, he underwent one of the first kidney transplants in the United States.
Her healthcare providers were shocked when she became pregnant shortly after the transplant. Many people I knew were afraid that she wouldn’t survive her pregnancy, but eventually my father took her from our home in Baton Rouge, Louisiana, to Houston for a consultation with the doctor who performed her kidney transplant, who eventually became my godfather. He treated her until she had a successful birth.
Everything was going well for us for almost two years, but that changed when I got my first kidney stone at 18 months old. When I was 4 years old, I underwent my first lithotripsy, a non-invasive shockwave therapy, to break up the kidney stones that I continued to have over the next four decades. Ultimately, I had 47 lithotrimes throughout my life and the older I got, the more the stones and my bladder hurt. I also had excruciating joint pain and discomfort throughout my body.
My parents were very proactive during my childhood, taking me to consultations with the best doctors in teaching hospitals across the country, but we never got an explanation. I did the same thing as an adult when my symptoms worsened, but the doctors I spoke to told me it was just my “nerves” or “anxiety.” Things got even worse when they accused me of trying to get medication when I went to the hospital in pain. I was repeatedly told to just drink lots of water or change my diet. But no matter what I did, I kept getting infections and kidney stones. By the time I turned 30, I had taken so many oral antibiotics that they had to insert a catheter to give antibiotics intravenously because the oral antibiotics were no longer working.
Despite my medical problems, I was able to get pregnant and my husband and I have two children, one 19 years old and the other 15 years old.
But as time went on I developed kidney failure and when that happened, it happened quickly. For a week I didn’t feel well and couldn’t do the things I needed to do, despite the discomfort I had done many times before. He also had a fever, even though he was taking very strong antibiotics. My husband took me to see my doctor and my lab tests showed that I was in complete kidney failure, even though my lab tests from a week before were normal. They told us to go to the emergency room immediately.
For the first time in my life, I finally met a nephrologist, a kidney specialist. I have always had consultations with urologists (urinary tract specialists) before because they deal with kidney stones, and none of the people I had consultations with thought that the kidneys could be the cause of the problem. This nephrologist was also the first to recommend genetic testing. If I had known this was an option, I would have applied for it a long time ago.
Tests revealed he had an extremely rare condition called primary hyperoxaluria (PH), which causes oxalate, a mineral found in many foods, to build up in the kidneys and other organs. Not only did he have an extremely rare disease, but he also had the most severe type (Type 1), which is the most difficult to treat.
People with HP1 produce very little or no enzyme that processes oxalate. And because we don’t produce these enzymes in sufficient quantities, the buildup can cause kidney stones, affect organs, and even lead to complete organ failure.
My nephrologist told me that all the low oxalate diets I tried made no difference because my body couldn’t break down oxalate at all. Oxalate built up throughout my body. My liver couldn’t process the oxalate, which also led to kidney failure. I underwent dialysis until I received a liver and kidney transplant in April 2024.
When I found out that HP had explained a lot to me about my life and my mother’s life. Even after her transplant, she was very sick throughout my childhood and died when she was just 47 years old.
I was frustrated that after so long I found a doctor who actually tried to figure out what was wrong with me. Although PH cannot be cured, it can be treated. Earlier treatment would have given me a better quality of life and I would have felt less pain for many, many years. Before my diagnosis, I was on the verge of having a nervous breakdown because I thought I was doing something wrong and wondered why I wasn’t getting better.
When I received my diagnosis, I immediately contacted the Oxalosis and Hyperoxaluria Foundation (OHF) for support. My goal now is to raise awareness so that other people don’t have to experience what happened to me. I want to help women in particular to listen to us and not just ignore our symptoms as fear or as if we are just imagining them.
I remember my parents doing everything they could to find out what was happening to me. My mother, in particular, knew that something was wrong. My belief system tells me that my parents see me from heaven and know what happened, but it would have been wonderful to be able to tell them what happened before they died.
I would tell them that I never gave up. I finally realized what was going on.
Features
Oxalosis and Hyperoxaluria Foundation (OHF)
This educational resource was created with support from Alnylam.
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