I have spent 40 years searching for answers to my pain. I didn’t know I had a rare genetic disorder.

Spanish

As told by Shannon Shelton Miller

My own story really begins with my mother’s health journey. She had been very sick as a child and no one could figure out what was wrong with her. In March 1979, she 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 in her life feared the pregnancy would kill her, but my father eventually took her from our home near Baton Rouge, Louisiana, to Houston to see her kidney transplant doctor, who eventually became my godfather. He treated her until she had a successful birth.

For almost two years everything was going very well for all of us, but that changed when I lost my first kidney stone at 18 months old. When I was 4, I underwent my first lithotripsy—noninvasive shock wave therapy—to break up the kidney stones that I continued to get over the next four decades. I ended up having 47 lithotripsies over the course of my life, and the older I got, the more my kidneys and bladder hurt. I also had excruciating joint pain and pain throughout my body.

My parents were very proactive throughout my childhood, directing me to some of the best doctors in teaching hospitals across the country, but we never heard back. I did the same thing as an adult as my symptoms got worse, but the HCPs I saw told me it could simply be my “nerves” or “anxiety.” What was even worse was when they accused me of taking drugs when I came to the hospital in pain. I was constantly told to just drink lots of water or change my diet. But no matter what I did, I still got kidney stones and infections. By the time I was in my 30s, I had taken so many oral antibiotics that I had to have a port installed to give me intravenous antibiotics because the oral antibiotics were no longer working.

Despite my health problems, I was still able to get pregnant and my husband and I have two children, a 19-year-old son and a 15-year-old daughter.

But at some point my kidneys failed – and when that happened, it happened quickly. For a week I didn’t feel well and couldn’t keep going like I had often done to my body. I also had a fever despite taking strong antibiotics. My husband took me to my HCP and my lab work showed that I was in complete kidney failure, even though my lab results had been normal a week earlier. We were told to go to the emergency room immediately.

For the first time in my life, I finally met with a nephrologist – a kidney specialist. I have always visited urologists (urinary tract specialists) before, as they are the ones who deal with kidney stones, and no one I have seen before had ever considered my kidneys as a possible cause of the problem. The nephrologist was also the first to recommend that I have a genetic test. If I had known this was an option, I would have asked about it a long time ago.

The test revealed that I have an extremely rare condition called primary hyperoxaluria (PH), which causes oxalate – a mineral found in many foods – to build up in your kidneys or other organs. In addition to this extremely rare condition, I suffer from the most severe form (Type 1), which is the hardest to treat.

People with PH1 produce very little or no enzyme that processes oxalate. And since these enzymes are not available to us in sufficient quantities, the accumulation can contribute to the development of kidney stones, organ diseases and even complete organ failure.

My nephrologist told me that all the low-oxalate diets I had tried had made no difference because my body couldn’t break down oxalate at all. Oxalate was building up all over my body. My liver couldn’t process the oxalate, which caused my kidneys to fail as well. I went on dialysis until I received a liver and kidney transplant in April 2024.

When I found out I had PH, he answered so many questions I had 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 angry that it took so long to find an HCP who actually tried to figure out what was going on. While PH cannot be cured, it can be treated, and earlier treatment could have given me a better quality of life and less pain for so many years. Before my diagnosis, I was on the verge of a nervous breakdown because I thought I was doing something wrong and wondered why I wasn’t getting better.

After receiving my diagnosis, I immediately signed up with the Oxalosis and Hyperoxaluria Foundation (OHF) for support. My goal now is to be a voice to help others so they don’t experience what I went through. Above all, I want to help ensure that women are heard and that our symptoms are not dismissed as mere fear or imagination.

I think back to how my parents did everything they could to find an answer for me. My mother in particular knew that something else was going on. My belief system tells me that my parents are looking down on me from heaven and know what happened, but it would have been wonderful to be able to tell them before they died.

I would tell them that I never stopped fighting. I finally figured it out.

resources

Oxalosis and Hyperoxaluria Foundation (OHF)

This educational resource was created with support from Alnylam.

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Our “Real Women, Real Stories” are the authentic experiences of real-life women. The views, opinions and experiences shared in these stories are not endorsed by HealthyWomen and do not necessarily reflect the official policy or position of HealthyWomen.

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