The Doctor and the Adults: A Cystinosis Story, Part One

She wears a lacy white dress with a long, white veil. Her beautifully shaped eyebrows arc over long-lashed eyes. Her smile, illuminated by bright red lipstick, speaks of the happiness the camera has captured for this moment: her wedding day. Unless Rebecca had captioned her wedding photographs, no one would know that she is one of approximately 500 Americans who lives with the rare disease cystinosis.

Rebecca later posts her feelings about the moment her bridal photograph was taken, “You may not see it, but I sure do. In this photo I’m exhausted, swollen, and scared. I had a kidney biopsy eight days before and was coming off of a high prednisone pulse because my kidney was struggling. I had to sit down, because I didn’t have the energy to stand anymore.”

Rebecca uses her platform on social media to address an important aspect of being an adult living with an illness like cystinosis: “Since the wedding I have been hospitalized three times. It has been a struggle, but God is so good! Our marriage has been strengthened through this, and we have found new doctors that will work with my doctors back home. My care has gotten better, and the perspective these new doctors have has been extremely helpful.”

“For now, my kidney is struggling enough that I have to go back on the transplant wait list, but they think that there is a good chance we can get my kidney stabilized. If not, it’s a 10 year wait for a transplant. This is where the village is needed for adults…we need your prayers and support, because whatever this new chapter has in store for us, it’s not going to be easy.”

What Rebecca is referencing by declaring a village is needed for adults is a quote used as a battle cry within the rare disease community: it takes a village to raise a child. Organizations focused on rare disease awareness and research tailor their events for families with a new diagnosis and the treatment of illness in children. Often this is due to the fact that rare disease patients do not live into adulthood.

When sickness manifests itself in the bodies of children, physicians desire treatment and cures. Reporters itch to write the story of rare disease affecting children and their families. Because of the juxtaposition of suffering mirrored on a child’s face, donors give their money for treatments and cures.

When illness is mirrored on an adult’s face, pain coalesces with age, which results in less care from physicians, reporters, and donors.

Cystinosis is considered a lysosomal storage disease. As reported by Dr. Paul Goodyer for a 2017 anthology of stories and poems written by those touched with cystinosis, two discoveries in the twentieth century have better shaped physicians’ understanding of this disease that left many children dead by age nine. The cause of death was mainly because kidneys failed.

First of all, the function of the body’s lysosomes is to carry old proteins into amino acids for reuse. In a patient with cystinosis, the amino acid cystine does not exit the lysosome. Dr. Goodyer reports: “This observation led to the discovery that chemicals such as cysteamine could convert cystine into a smaller compound that can leave the lysosome through alternative normal channels.” Cysteamine is the main ingredient in oral treatment taken by patients. In the 1980s, when FDA regulations marketed the first drug for cystinosis, patients could ingest treatment every six hours so their bodies would delay kidney damage.

Secondly, the Cystinosis gene (CTNS) was discovered on chromosome 17 in 1998. The CTNS gene has been found to contain over 100 different mutations; the most common is a large deletion of DNA. The ancestry behind most cystinosis cases is German. It spread to North America, Europe, South America, and the Middle East as people migrated.

The disease cystinosis expresses itself in kidney failure. Urinary losses of phosphate, bicarbonate, and other electrolytes cease to be reabsorbed by the body. Successful kidney transplantation allows for patient quality of life and a typical adulthood. Because cystinosis is lysosomal, the kidneys are not the only organ affected and successful transplantation does not always guarantee longevity. Other organs and body systems affected are eyes, pancreas, liver, muscles, bones, and brain.

To be continued in one more part.


Rebekah Palmer

Rebekah Palmer

Rebekah Palmer is the author of two books published by Aneko Press: A Letter to my Friend and A Letter to Myself. She also has poetry included in the anthology Strength: Lives Touched By Cystinosis. She is a rare disease news curator for her blog Cystinosis Society. Please visit her author profile on Goodreads and her author page on Facebook called Jairus Daughter to ask any questions or to reach out.

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