For the last two and a half years, the COVID-19 pandemic has dominated the headlines. It has been hard to look online – or do anything in person – without hearing about the continued spread of this virus. But for people within the rare disease community, like 19-year-old Kacy, who has cystinosis, the pandemic has also brought on unique challenges. Navigating the world with health vulnerabilities is already difficult – much more so when having to consider these outside factors.
In our interview, Kacy and I sat down to discuss her cystinosis diagnosis, why it is important to raise rare disease awareness, and the realities of what it means to be a college student with a rare disease in a pandemic world.
Children with cystinosis often display symptoms or signs within the first six to twelve months following birth, leading to diagnosis. But for Kacy, the diagnostic process was slightly longer. When Kacy was growing up, her parents noticed a few potential concerns: a voracious appetite for salty foods, a need to constantly drink water, and constant vomiting. Yet when her parents brought her to the doctors, nobody seemed to be able to find the cause. Eventually, shares Kacy:
“I was being tested for growth hormone deficiency and had to fast for 12 hours, which sent my body into severe dehydration. I ended up in the hospital, and it was during that stay that I was diagnosed when I was four years old, which is pretty late for cystinosis. I know it was pretty stressful for my parents, especially because a lot of doctors didn’t know much about it, but there was some relief in finally having a diagnosis after so much uncertainty.”
In fact, Kacy explains, there are still many medical professionals that she sees who have not heard of this condition. She tells them:
“It’s a rare disease that involves me taking a lot of medications, and I had a kidney transplant in 2015. Right now, I usually just share a little run-down, and I don’t go into too much detail. I direct them to the Cystinosis Research Network website to learn more since its pretty involved.”
What is Cystinosis?
Cystinosis is a rare, multi-system genetic disorder characterized by the accumulation and crystallization of cystine, an amino acid, in cells. Cystine is naturally occurring in the body. However, CTNS gene mutations cause cystinosin deficiency, making it difficult to transport cystine throughout the body. As cystine accumulates in cells, organs, and tissues, it can cause organ damage and other health issues.
There are multiple clinical types of cystinosis: nephropathic, intermediate, and non-nephropathic/ocular. The first form is the most severe and is often diagnosed in late infancy. Next, the intermediate form develops later in life. Finally, the non-nephropathic form often lacks severe symptoms outside of corneal crystals. Signs and characteristics of cystinosis can include:
- Excessive thirsts
- Corneal crystals
- Feeding intolerance
- Frequent urination
- Problems with movement and coordination
- Nutrient loss through urine
- Difficulty thinking, focusing, or remembering information
- Kidney damage
Learn more about cystinosis.
Receiving a Kidney Transplant
Many individuals with cystinosis, especially with the nephropathic type, experience kidney failure within their first 10-12 years. As a result, they often require kidney transplantation. For Kacy, her kidney transplant happened in 2015; she received a kidney from her father. She shares:
“It was definitely tough. At the time, I was in middle school so I was still pretty young. I was sick all of the time, which is how my family and my doctors came to realize that I needed the transplant. My whole family was a match, but we decided to go with my dad since my mom takes on more of a carer role.”
Since receiving the kidney transplant, Kacy has been doing well! Her regimen for taking care of herself, and ensuring the health of her kidneys, includes daily medication management. She shares:
“I take medication four times each day. It’s important for me to take them at regular intervals. When I first moved to college, I had to set alarms to make sure I remembered while I was in class. But it’s definitely a habit now.”
For the most part, the medication management is the most time-consuming part of managing her condition. Other than that, she also drinks a lot of water and:
“I can’t play contact sports. I love working out and doing things like boxing, but one of my kidneys is in the front on my right side so I have to make sure I don’t get hit there.”
Kacy also explained that due to her cystinosis, she sometimes has more difficulty with reading comprehension and test-taking. So she has an IEP to help ensure her success at school.
Approaching College with Cystinosis – During the COVID-19 Pandemic
When COVID-19 first came onto the scene, it was frightening. There was rampant misinformation being spread in the news, and nobody knew exactly how it would affect them. Kacy was scared of getting it and explains:
“I was very isolated, and I don’t think we left our house for months. Our parents wouldn’t go anywhere, especially before the vaccine came out. The first time we did leave the house it was to get my labs drawn, and I had to go to the hospital where everyone was sick. I masked up about triple the amount. I also left my job during COVID. It was very hard.”
So imagine how frightening it was when Kacy moved to college and, just two days into her freshman year, started experiencing symptoms. At first, she wasn’t too worried; after all, she had been vaccinated three times. But then she explains:
“I was so sick and laying in bed. I couldn’t make it to class and if I ate or drank anything, I would vomit. Steroids weren’t helping so I went to Urgent Care. I tested negative for COVID-19. But my symptoms got worse and worse, so a few days later, I met my mom at the ER at U of M Hospital. That is where all of my care has been, so I wanted to be where my doctors knew me. They tested me for Covid in the ER, and it came back positive. I was severely dehydrated, and my lab work was very bad across the board. It was a very scary time for my parents and me.”
Eventually, Kacy was admitted into the intensive care unit (ICU) for about two weeks. At the time, doctors were very concerned that she was going to lose her kidney because she was so sick and dehydrated. The scariest part, however, Kacy explains, was that:
“There was one point where my mom said that my body was shutting down. I had developed multisystem inflammatory syndrome in Children (MIS-C). Every system in my body was experiencing inflammation. I had teams of doctors working on me from nephrology, cardiology, rheumatology, hematology, infectious disease, and more. All of my organs were stressed. My body was fighting to stay alive.”
After two weeks in the hospital, Kacy was discharged and went home. She had to do breathing treatments, anti-coagulant injections, tons of medications and make sure that she was drinking enough fluids. Altogether, it took her about three months of recovery before she was able to return back to school – just in time to face the Omicron variant. With the challenges of that environment, Kacy made the decision to withdraw from university. She’ll start fresh at a new university this fall semester.
Right now, Kacy says, she just wants people to understand the realities of life with a rare disease or chronic illness – and how impactful things like COVID-19 can be. She says:
“People say, ‘Oh, you’re just getting it worse,’ but they don’t really understand how hard it is to live with a chronic illness and get COVID on top of that. At this point, I still think I’m recovering.”
Even though she is still recovering, Kacy feels good about what life will bring her in the future. She is currently working as a dog sitter for clients, volunteering for an animal rescue with her mom, and plans to pursue a nursing degree at her new school this fall. Her desire to become a nurse or work in healthcare is an extremely personal one:
“I’ve spent so much time in the hospital and just being around that. It makes me want to help someone else in my spot. I want to be a great support system for people who are going through the same challenges.”
She is also extremely grateful for her own support system, especially her parents. Every few years, she goes to a conference for cystinosis, and urges those who are newly diagnosed to consider finding an online group, such as the Cystinosis Research Network, where they can find other people who relate. Other than that, she says:
“Stay calm. Take your medicine, and be your own advocate. But the biggest thing I want to tell people is to just stay positive. You’ll get through this.”