As Erica Rimlinger tells it
November is National Nurses Month.
My son Jack, then a second grader, stayed home sick from school on Friday, but woke up on Saturday feeling better and ready for his two basketball games – one of which was the championship. It was going to be a big weekend, and for more reasons than we could have imagined as we packed Jack’s gear into the car that morning. Shortly after helping his team win the championship, Jack was hospitalized en route to a life-changing diagnosis.
Jack is an active, healthy boy who loves sports and plays baseball, basketball and soccer. He has always been prone to stomach problems, but it never worried his pediatrician, so it didn’t worry us either. An upset stomach was not an uncommon symptom when Jack was sick. But that Friday he also said his hips hurt. It wasn’t really a warning sign, but it was a little unusual.
After the championship game, Jack, my mother and I drove from our home in Erie, Pennsylvania to Pittsburgh to see my niece’s dance recital. Jack was tired, which made sense: He had been doing vigorous exercise shortly after recovering from a gastrointestinal illness.
Courtney’s sons Jack and Benny, 2025
At the concert the next day he turned to me and said he felt very dizzy. The red flag appeared to me. Then he told me that it had been painful for him to urinate for a few days. More warning signs emerged. We had to go.
We got up, quickly shuffled out of the concert and drove home to Erie and straight to the emergency room, where Jack’s urine sample showed signs of blood. We were sent to the emergency room and learned that Jack was suffering from kidney failure and his creatinine, a kidney enzyme, was more than five times normal. He was admitted to UPMC Children’s Hospital of Pittsburgh. There, Jack lost 15 kidney stones in two days.
Why did this happen? The doctors first looked for answers in Jack’s diet. They asked me what Jack ate and drank. I was stunned when they asked if it was possible he had drunk antifreeze.
But when Jack’s painful kidney stones disappeared – and he was brave enough to get rid of them – his high creatinine levels immediately dropped and Jack felt better too. However, when his levels still stabilized above the normal range, doctors suspected that his kidneys were suffering from a chronic disease that he had been suffering from for some time.
We adjusted to hospital life as Jack was monitored, had more tests and waited for a diagnosis. I was a full-time professor of mathematics education at Penn State University’s Erie campus and taught my courses in Jack’s hospital room. I thought of all the warning signs that weren’t recognized as warning signs. Jack was prone to gastrointestinal illnesses, but we compared that to some children having frequent ear infections. Jack was always thirsty and couldn’t seem to drink or maintain fluids, but we thought it was due to his active lifestyle and exercise routine.
2024 (photo/Kibbe photography)
When we first went to the hospital, a doctor had listed primary hyperoxaluria (PH) as a possible cause of Jack’s illness, but said it was unlikely. This is rare because it is genetic and both parents must be carriers of the gene for the disease to occur. Although PH causes symptoms in the kidneys, it is a liver problem in which the substance that breaks down waste products (such as oxalate) is either too low or missing. This leads to a cascade of problems that lead to kidney stones, chronic kidney disease and kidney failure. If left untreated, it can also affect other organ systems.
Because the doctor believed this rare disease was possible, Jack received the diagnosis within two weeks. For most people with PH, it takes years to be diagnosed. So we were lucky that we quickly knew what to expect.
We were also lucky that a new treatment was developed this year. Before this treatment, doctors simply gave the person fluids and waited for a kidney transplant, a liver transplant, or both.
I had never heard of PH and once the diagnosis was confirmed I switched from just surviving to intensive research. I spent every free minute learning about the disease. The goal of treatment is to prevent the buildup of oxalate in Jack’s kidneys and blood vessels. Jack gets a shot every three months and we have to monitor his fluid intake carefully, but Jack has always been a big advocate of drinking water.
Jack is very lucky that his kidneys are stabilizing with the medication. The injections won’t cure his kidney disease, but they will prevent further damage from occurring.
We hope that Jack will not need a liver or kidney transplant and that his creatinine levels, although still high, can be maintained. Jack’s medication is so new that his case is under investigation. There are still many unknowns, but we are trying to remain optimistic and proactive while staying grounded and informed. Through genetic testing, we learned that both my husband and I are carriers of PH and that our younger son is a carrier of PH. Only Jack has the disease.
We seek out doctors who specialize in kidney and urinary tract health and travel from Erie to Pittsburgh or Akron to see them. Despite the disorder, Jack leads a largely normal life as a sixth grader. He still plays baseball, soccer and basketball and loves all of his sports.
While Jack’s daily life continues as normally as possible, I feel the anxiety increasing as we approach an appointment for a series of important lab tests or a nephrology appointment. I’m bracing myself for the fear that comes with seeing your test results come back abnormal, which is a jarring feeling when you watch your healthy-looking child running around on a soccer field.
At times, coordinating Jack’s care feels overwhelming. Between the medical teams at hospitals in different states, the insurance, the specialty pharmacy, and the nurse at home giving Jack his injections, it can be stressful. But family, friends and support networks help.
2024
Through the Oxalose and Hyperoxaluria Foundation (OHF), we found a support network that has made a huge difference. I never realized that when you’re dealing with an extremely rare disease – one that many doctors haven’t even heard of – you have to become your own mini-expert and advocate for it with medical teams, schools and sports teams.
The events offered by the OHF are the only places where Jack has been in the same room with other people suffering from the same illness. It is the only place where people understand how difficult it is to explain and coordinate care for this unfamiliar condition.
We don’t have it all figured out yet, but we have learned to give ourselves the grace to recognize it. As a result, so many good people have come into our lives and Jack is happy and healthy today. For me this is a good basis for optimism and hope.
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