For 25 years, Rebekah Palmer has been living with cystinosis, a rare genetic metabolic disease that can lead to progressive, irreversible tissue damage, multi-organ failure and premature death.
Her doctors predicted Rebekah — who underwent a kidney transplant and survived lymphoma during her middle school years — wouldn’t live past her 20s.
However, at age 30, Rebekah is an advocate, an author and a student at UW-Stout, pursuing a bachelor’s degree in professional communication and emerging media.
“With a rare disease, you can still have a fulfilling life,” said Rebekah, of rural Boyceville, who agreed to share her story to create awareness of cystinosis.
Rare Disease Day is Wednesday, Feb. 28, and the main objective is to highlight such illnesses and their impact on people’s lives.
“Building awareness of rare diseases is so important because 1 in 20 people will live with a rare disease at some point in their life,” according to the website rarediseaseday.org. “Despite this, there is no cure for the majority of rare diseases … .”
That is the case with cystinosis. Rebekah was diagnosed with nephropathic cystinosis, one of three forms of the disease and its most common, at age 5.
Before Rebekah started kindergarten, her mother, Sandi, took her to the doctor for a physical. Suspecting her daughter — who drank a lot of water — might be diabetic, Sandi brought along a urine sample.
The day after the appointment, the doctor called Sandi and asked her to have Rebekah fast and come back for another urine sample. Testing revealed a lot of protein in Rebekah’s urine, and she was sent to the University of Minnesota Medical Center in Minneapolis.
“There, they knew (she had cystinosis) just by looking at her,” said Sandi of her blonde-haired, fair-skinned daughter who was sensitive to sunlight. The knock-kneed girl “was always small and thin.”
Although infants with nephropathic cystinosis appear normal at birth, by 10 months of age they are clearly shorter than others their age, according to the Cystinosis Research Network. They urinate frequently, have excessive thirst and often seem fussy.
Cystinosis also can cause sensitivity to light and the softening or weakening of bones, according to Cystinosis United, a website and Facebook community that features resources for patients including videos, graphics, stories from families and experts, and links to resources from advocacy organizations.
At the University of Minnesota Medical Center, Rebekah underwent testing, including a kidney biopsy and an eye exam. Tests revealed crystals in her eyes, and her kidneys were found to be functioning at 60 percent.
Sandi and her husband, Doug, had never heard of cystinosis.
“When she was diagnosed, I went to the public library, hoping to learn more about it,” Sandi said. “The book I found, I couldn’t check out, so I had to make a copy (of the information). I remember seeing ‘death by age 9.’”
Children with nephropathic cystinosis develop renal Fanconi syndrome, a rare disorder characterized by kidney dysfunction. The syndrome also can cause hypophosphatemic rickets, the progressive softening and weakening of the bones, a condition Rebekah experienced.
To treat the disease, Rebekah was given phosphocysteamine in a powder form. After it was mixed with water, she had to drink it.
Noting it was horrible, “I don’t take liquid drugs now,” Rebekah said.
Over time, Rebekah’s kidney function continued to diminish, and she underwent kidney transplant surgery the summer between sixth and seventh grade. Her mother was her donor.
Before the holidays were over that year, Rebekah was diagnosed with lymphoma, a cancer of the lymphatic system. She was 12.
“This was the hardest on my parents,” Rebekah wrote in a four-part series she penned about cystinosis. “They were told a kidney transplant could prevent early death from the rare disease cystinosis. Now, they were faced with my life lasting three months to three years at the most because of a childhood cancer as well as a cancer I most likely got from an overdose or anti-rejection medication.”
Rebekah didn’t allow the disease, its complications or the numerous trips to the doctor and medications she had to take get in her way.
She graduated from Immanuel Baptist Christian School in Menomonie in 2005 and Providence Baptist College in Elgin, Ill., in 2010. She returned to west-central Wisconsin after graduation, enrolled at UW-Eau Claire, began working part-time jobs (her health doesn’t allow her to seek full-time employment) and volunteering and penned two books, “A Letter to My Friend: Sharing Truths I Learned as a Teenager” and “A Letter to Myself: Speaking Out After Silence.” She also writes articles for the website Patient Worthy.
“I live with a lot of pain, but I’m grateful to be here,” said Rebekah, the oldest of Sandi and Doug Palmer’s three children.
Neither of her brothers, James and Evan, have cystinosis. While Sandi and Doug haven’t been tested, doctors assume both are carriers of the defective gene that causes the disease.
Even though she continues to feel the effects of her illness, Rebekah is embracing life.
“I enjoy being creative with whatever life throws at me,” she said.
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