Life With Cystinosis: A Rare Patient Story

Hannah Creel was only 18 months old when she was first diagnosed with cystinosis, a rare disorder that affects all organs in the body, in particular the kidneys. Her parents now had the challenging task of taking care of their young daughter who was living with a rare disease. In the early years, they were often in and out of the hospital for treatments and check-ups.

“When I turned three years old I was admitted to the hospital because of severe dehydration. My parents had all these elaborate plans for a birthday party, but they were put on hold.” – Hannah

Cystinosis is a type of lysosomal storage disease which is characterized by the abnormal accumulation of the amino acid cystine in the body. The disease is caused by mutations affecting the CTNS gene. This disease leads to the formation of cystine crystals in different areas of the body, which causes damage to every cell and organ. Signs of damage usually start in the kidneys and eyes. Severe cystinosis can cause major symptoms early in life, such as kidney failure, growth and developmental impairments, diabetes, muscle atrophy, reduced skin and hair pigment, blindness, impaired sweating, and inability to swallow. Treatment of cystinosis includes cysteamine, which can impair the growth of crystals in the body; sodium citrate is also used to control blood acidity. Even with treatment kidney failure may still occur, and in many cystinosis cases dialysis and ultimately a kidney transplant are necessary for survival. To learn more about cystinosis, click here.

Hannah and her family learned to adapt to the unexpected twists and turns that come with a rare, chronic illness like cystinosis. At age 11, she had to get a kidney transplant. While both of Hannah’s parents were a match, her father wound up being the donor for the operation:

“I’ve always been a daddy’s girl and that just strengthened our bond even more. While I now have a healthy kidney, the transplant isn’t a cure.”

Hannah takes medications specifically for cystinosis as well as drugs to prevent the rejection of her transplanted kidney. She also must continue to get frequent testing and lab work in order to monitor the effect of treatment and her cystine levels. Hannah also receives injections to treat anemia and has also had to deal with gastrointestinal issues in the past.

Hannah is a rising senior in college and studies music education. As a result, she plays several instruments. She recently started visiting a chiropractor after noticing trouble with her posture while playing.

“I used to have rickets, which is a telltale sign of cystinosis in younger children.”

She also discussed the adjustment of going off to college and learning to manage her condition without the help of her parents:

“It takes a good amount of prioritizing and planning…if you want to maintain your health you have to make the decisions that you need to beforehand. For me that looks like preparing the medicine when I have the spare time.”

Time management is critical and even a minor oversight can be problematic. Learning to self-advocate and educate new members of her health team about cystinosis has also been essential during the transition to adulthood.

Hannah also had to learn to adapt when the COVID-19 pandemic came crashing down over a year ago. It had a major impact on her education, which was particularly difficult since it was focused around music. The online classroom was far from a seamless translation of an in-person setting with singing and instruments.

Hannah found comfort during quarantine back at her parent’s house by taking drives with her dogs. She also spent the spare time honing her ukulele skills.

“Advocate for yourself in any way, shape, or form that you can find. Take it and run with it because advocacy for a rare disease can always stand to be promoted. Any way that connects you to others with a rare disease. Anything that connects you with advocating for yourself or others with rare diseases.”

 

 

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