I didn’t know I had a rare genetic disorder.

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As I said to Shannon Shelton Miller

My story actually begins with my mom’s health journey. She was very sick as a child and no one could figure out what was wrong with her. In March 1979, she received the first kidney transplant in the United States.

Her healthcare provider (HCP) was shocked when she became pregnant shortly after the transplant. Many people in her life feared that 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 ended up becoming my godfather. He treated her until she gave birth successfully.

For almost two years, everything went very smoothly for both of us. But that changed when I suffered my first kidney stone at 18 months old. I had my first lithotripsy (non-invasive shock wave therapy) when I was 4 years old. The reason was to destroy kidney stones, which I continued to receive for the next 40 years. I’ve had 47 lithotripsy surgeries in my lifetime, and the older I got, the bigger the scars on my kidneys and bladder got. I also suffered from extreme joint pain and overall body pain.

My parents were very active throughout my childhood, taking me to some of the best doctors at university hospitals around the country, but they got no answers. As my symptoms continued to worsen, I took the same steps as an adult, but the health care providers I saw told me it could just be “nerves” or “anxiety.” What was worse was when I came to the hospital in pain and they accused me of seeking drugs. I was constantly told to drink more water or change my diet. But no matter what I did, I still got kidney stones and infections. When I was in my 30s, I was taking so many oral antibiotics that they were ineffective, so I had to have a port installed to administer them intravenously.

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

But my kidneys eventually failed, and when it happened, it happened quickly. I haven’t been feeling well for a week and haven’t been able to hold on like I have put my body through many times before. Even though I took strong antibiotics, I still had a fever. My husband took me to see my HCP, and labs showed I had kidney failure, even though I had been fine a week before. We were told to go to the emergency room immediately.

For the first time in my life, I saw a nephrologist, a nephrologist. I had always seen urologists (urologists) who dealt with kidney stones before, and no one I saw had ever looked at my kidneys as a potential source of the problem. My nephrologist was also the first person to recommend that I get genetic testing. If I’d known it was optional, I would have asked for it a long time ago.

Tests revealed that I suffer from a very rare disorder called primary hyperoxaluria (PH), which causes oxalate, a mineral found in many foods, to build up in the kidneys and other organs. In addition to this extremely rare disorder, I have the most severe form (Type 1), which is the most difficult to treat.

People with PH1 produce little or no enzymes that process oxalate. And since there are not enough such enzymes, their accumulation can contribute to the development of kidney stones, organ diseases and even total organ failure.

My nephrologist told me that all the low-oxalate diets I had tried would not have made any difference because my body cannot break down oxalate at all. Oxalates build up throughout your body. My liver couldn’t process the oxalate, which also caused my kidneys to fail. Dialysis continued until he received a liver and kidney transplant in April 2024.

I found that PH answered many questions I had about my life and my mother’s life. Even after the transplant, she remained severely ill throughout her childhood and died at the age of 47.

I was upset that it took so long to find an HCP who truly tried to figure out what was wrong. Although PH cannot be cured, it is treatable, and if it had been treated early, you may have been able to enjoy a better quality of life and less pain for many years. Before I was diagnosed, I was close to a mental breakdown, thinking I was doing something wrong and wondering why I wasn’t getting better.

After being diagnosed I immediately registered for support with the Oxalosis and Hyperoxaluria Foundation (OHF) and my goal now is to be a voice to help others avoid experiencing what I have. I especially want to listen to women and help them not dismiss our symptoms as just anxiety or something in our heads.

I reflect on how my parents did their best to find answers for me. My mom in particular knew something more was going on. My belief system is that my parents are looking down on me from heaven and know what’s going on, but I wish I could have shared that with them before they passed away.

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

resources

Oxalic Acidosis and Hyperoxaluria Foundation (OHF)

This training material was created with support from: Alnylam.

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