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

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as reported Shannon Shelton Miller

My story actually begins with my mother’s health problems. She became seriously ill as a child and no one could determine what was happening to her. In March 1979, he 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 I knew feared she wouldn’t survive the pregnancy, but my father eventually took her from our home in Baton Rouge, Louisiana, to Houston to consult with the doctor who performed her kidney transplant, who eventually became my godfather. He treated her until she gave birth successfully.

For almost two years, everything went smoothly for all of us. But things changed when I developed my first kidney stone when I was 18 months old. I had my first non-invasive shock wave therapy, lithotripsy, when I was four years old. This treatment was intended to break up kidney stones, which he continued to have for the next 40 years. I have had 47 stones in my lifetime, and the older I get, the more stones and bladder pain I have. I also had extreme joint pain and discomfort throughout my body.

Since childhood, my parents actively helped me consult with the best doctors at teaching hospitals across the country, but I received no explanation. I did the same thing as an adult when my symptoms got worse, but the medical professionals I consulted told me it was just my “nerves” or “anxiety.” It got even worse when I went to the hospital because I was sick and they criticized me for trying to get medicine. I’ve been told repeatedly to drink more water or change my diet. But no matter what I did, I kept getting infections and kidney stones. By the time I was 30, I had been taking so many oral antibiotics that they were no longer effective and I had to have a catheter inserted to give me antibiotics intravenously.

Despite my health problems, I was able to get pregnant, and my husband and I had two children. One is 19 years old and the other is 15 years old.

But over time, I started developing kidney failure, and once it happened, it progressed quickly. During the week I was feeling unwell and, as I had done many times before, I was unable to do what I needed to do despite my discomfort. He also developed a fever despite taking very strong antibiotics. My husband took me to see a health care provider, and the lab tests showed that I was in complete renal failure, even though my lab tests from a week ago had been normal. They told me to go to the emergency room right away.

For the first time in my life, I saw a nephrologist, a nephrologist. In the past, I always consulted urologists (urologists) because they dealt with kidney stones, but no one I consulted thought that the kidneys could be the source of the problem. The nephrologist was also the first person to recommend genetic testing. If I had known it was an option, I would have applied long ago.

Tests showed he suffered from 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. In addition to an extremely rare disorder, he had the most severe form (Type 1), which is the most difficult to treat.

People with HP1 produce little or no enzymes that process oxalate. And because we do not produce adequate levels of these enzymes, their buildup can cause kidney stones, affect the organs, and even lead to 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 built up all over my body. My liver couldn’t process the oxalate and it also caused kidney failure. I received dialysis until I received a liver and kidney transplant in April 2024.

I found that HP explained a lot 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 only 47.

I was disappointed that, after all this time, I had found a health care provider who was genuinely trying to figure out what was wrong with me. PH cannot be cured, but it is treatable, and if you had received treatment sooner, your quality of life would have been better and you would have felt less pain over the years. Before my diagnosis, I was close to a mental breakdown because I thought I was doing something wrong and wondered why I wasn’t getting better.

As soon as I was diagnosed I immediately applied for support from the Oxalosis and Hyperoxaluria Foundation (OHF), and my goal now is to raise awareness so others don’t experience what happened to me. I especially want to help women listen to us and not dismiss our symptoms as mere anxiety or imagining things.

I remember my parents trying their best to make sure I knew what was happening. My mom in particular knew something was wrong. My belief system is that my parents saw me in heaven and knew what happened, but I wish I could have told them what happened before they died.

I will tell them that I never gave up. I finally figured out what was going on.

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Oxalic Acidosis and Hyperoxaluria Foundation (OHF)

This educational material was produced with the support of . Alnylam.

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