Living With a Rare Disease
- Olympic gymnast Suni Lee was diagnosed with rare kidney disease after experiencing swollen ankles and weight gain. Now she’s in remission and competing in the 2024 Paris Olympics.
- The NIDDKD explains, “The kidneys are two bean-shaped organs. Each kidney is about the size of a fist. Your kidneys filter extra water and wastes out of your blood and make urine. Kidney disease means your kidneys are damaged and can’t filter blood the way they should.”
- It’s unclear what type of kidney disease Lee battles, but handling a rare disease can be very overwhelming and SurvivorNet’s experts have guidance on how to seek out specialized treatment providers.
- More common diseases might not require the same degree of specialized attention, but finding doctors with specific expertise may be necessary for rare ones. In that case, the most effective place to find a specialist is often at academic centers and comprehensive care centers.
- The SurvivorNet Clinical Trial Finder and websites called Clinicaltrials.gov and PubMed are great resources to use if you’re considering experimental treatment for your rare disease. These databases can also help you find doctors who specialize in your disease.
- Other options you may pursue include researching companies that are in the process of developing drugs to treat your specific disease and investigating the possibility of “compassionate use,” which makes drugs available to some patients before the drugs are officially approved.
American gymnast Sunisa "Suni" Lee, 21, was diagnosed with two rare forms of kidney disease last year after experiencing swollen ankles and weight gain—but the Olympic champion hasn't let the health challenge prevent her from competing at the 2024 Paris Olympics. Lee, who is the epitome of resilience as she's now in remission and continuing to prove to herself that she can "overcome hard things," recently opened up about her kidney disease diagnosis and the symptoms that raised concerns to
Self. She told the online magazine that she woke up in February 2023 with swollen ankles, something she attributed to training intensely. However, the next morning, she noticed her face, legs, hands, and other areas across her body also were inflated. "I just kept getting more swollen…and I think I gained, like, 40 pounds," she explained, noting that after practice, "I kept peeling off the bar. I couldn't hold on ... My fingers were so swollen."
After her doctors' initial reaction was that she had some sort of allergy, her symptoms never went away, but worsened over another two weeks. Lee, who was part of the Auburn University’s gymnastics team at the time, wasn't able to take part in an NCAA meet in March because her symptoms took hold on her entire body and how she felt. Lee also experienced cold spells, headaches, cramping, and swelling that even caused her eyes to swell so much she couldn't open them, she explained to Self. By April she revealed she also suffered from nausea, lightheadedness, and was always in pain. It wasn't until USA Gymnastics team doctor Marcia Faustin inquired about Lee taking a urine test, something she hadn't yet done even though she had trouble urinated for weeks. After additional testing, a biopsy was done of her kidney tissue—which led to her diagnosis. Lee later revealed she was suffering from two different types of rare kidney disease, but thankfully, a year of treatment has helped her manage the incurable conditions, according to Self. She is now taking medication regularly to stay in remission from the unspecified diseases. Prior to the U.S. Gymnastics championships last year, she wrote in an update on
Instagram , "This comeback was so much more than my return to elite gymnastics. "It was me proving to myself that I can overcome hard things, and to hopefully inspire others to never let life’s setbacks stop you from going after your dreams."
After her hard work and dedication to get back into competition, Lee was cleared to compete for the 2024 Summer Olympics back in January. Lee, who is the first Hmong-American and Asian-American woman to obtain the Olympic all-around title, also spoke with
Elle magazine in a recent interview about her health feat. She told Elle, "I am in remission, so I’m getting a lot stronger. I’ve been able to train a lot more, and I am just so happy, because I really didn’t think I would be here. "To be here is quite incredible."
More On Living With Rare Disease
She explained further, "Taking my time in the gym has been feeling amazing. All of my skills are coming back and I’m just working on consistency," adding, "My mental health is the number one priority. "I’m just thinking of it as, it’s for me. I’m competing for myself. I’m proving it to myself ... I feel like I’m getting back to regular Suni."
Understanding Kidney Disease
It's unclear what type of kidney disease Suni Lee has but it's important to understand that, according to National Institute of Diabetes and Digestive and Kidney Diseases (
NIDDKD ), "You are at greater risk for kidney disease if you have diabetes or high blood pressure, if you experience kidney failure, treatments include kidney transplant or dialysis, or suffer from other kidney problems include acute kidney injury, kidney cysts, kidney stones, and kidney infections." The NIDDKD explains, "The kidneys are two bean-shaped organs. Each kidney is about the size of a fist. Your kidneys filter extra water and wastes out of your blood and make urine. "Kidney disease means your kidneys are damaged and can’t filter blood the way they should." According to the
National Kidney Foundation , the following are signs of kidney cancer:
- Fatigue
- Trouble Sleeping
- Dry or itchy skin
- Urgency to urinate more often
- Blood in urine
- Foamy urine
- Swollenness around eyes, feet, or ankles.
- Diminished appetite
- Muscle cramps
Adversity And The Art of Happiness: How Hardship Makes You Even Stronger Have a Rare Disease? Here are Some Resources
All sorts of feelings of anxiety, fear, and loneliness can come with the diagnosis of a rare disease. But it’s important to know you’re not alone. Below are some helpful resources for the many people affected by lesser-known or less-researched diseases.
Academic Centers and Comprehensive Care Centers
For some rare disease warriors, community centers provide great treatment options. But for people with rare conditions, cancer or otherwise, more specialized care may be required. In that case, the most effective place to find a specialist is often at academic centers and
comprehensive care centers. In a previous conversation with SurvivorNet,
Dr. Kenneth Miller , director of outpatient oncology at the University of Maryland’s comprehensive cancer center, explained what differentiates a “comprehensive cancer center” from other treatment providers.
Seeking Care at a Comprehensive Cancer Center “Pretty much automatically, there’s going to be a team approach [to your care],” Dr. Miller said. “Surgical oncology, medical oncology, radiation oncology, and all the support services, and also wonderful pathology and radiology.” Dr. Miller added that at a comprehensive cancer center, all of these different specialists work together as a team to help you find the best course of treatment for your specific kind of cancer. “We call it a tumor board, a group to go through all the details of your case so you get a group of very smart people coming up with a plan together that is hopefully optimal and gives you the best chance of doing well.”
Clinicaltrials.gov and the SurvivorNet Clinical Trial Finder
Another place to turn to when you’ve been diagnosed with a rare disease and you’re considering experimental treatment ) or trying to find specialists) is
clinicaltrials.gov, a database maintained by the U.S. government that compiles privately and publicly funded clinical trials conducted around the world.
Clinical trials themselves are research studies that compare the most effective known treatment for a specific type or stage of a disease with a new approach.
Clinical Trials Can be Life-Saving for Some Clinicaltrials.gov can help you explore possible treatment options by looking at trials that are actively recruiting. The site also provides the information of some of the most specialized doctors in a specific field since they often end up leading clinical trials that advance our understanding of diseases. By searching your disease on Clinicaltrials.gov, you will usually come across a list of many studies. The lead researcher will be listed under the heading, “Investigators.” Lead researchers in studies on rare diseases are typically doctors who have specialized in the study of that condition. And if you’d prefer to search for clinical trials on a more user-friendly site, try SurvivorNet’s new A.I. driven tool built on top of
clinicaltrials.gov: the SurvivorNet Clinical Trial Finder. This tool is updated daily and gives users access to more than 100,000+ individual clinical trials to help them find treatment options. To use the SurvivorNet Clinical Trial Finder, simply answer some basic questions using our custom-designed chat feature and we’ll send clinical trial options within your region right to your email. In simplifying the search, we hope to offer multiple opportunities for clinical trial sponsors and clinical research organizations to engage with patients. “Clinical trials are critical to the development of new therapies, and as we live through this extraordinary revolution in genomics, immunotherapy and targeted therapy, it’s clear that one of the most pressing needs for patients, clinical trials sponsors, and researchers is simply a better way to find patients,” SurvivorNet CEO Steve Alperin said. “Even one percent more people successfully enrolled in clinical trials can change the world.”
PubMed
Similar to clinicaltrials.gov,
PubMed is another place to turn if you’re looking to research your rare disease. This website includes more than 33 million citations for biomedical literature from
MEDLINE , life science journals, and online books. If you type in your disease, you’ll see a list of studies and articles about the condition. You can even add a filter to only look at clinical trial information. By looking at the doctors associated with the published clinical trial results and other articles, you may be able to find doctors that specialize in research for your disease.
Newly-Developed Drugs
For those who’ve been recently diagnosed with a rare disease, we also want to highlight reasons for hope since there is
something of a revolution going on in the development of drugs for rare diseases. The sequencing of the human genome has enabled doctors to take
new approaches to treating some of these uncommon conditions. One step you may take after being diagnosed with a rare disease is looking into the drug companies developing drugs to treat your condition.
Compassionate Use and Off-Label Use
Drug companies may be able to help patients
enroll in clinical trials , and in some rare cases, they may even be able to offer “compassionate use.” Compassionate drug use makes a new drug that has not been fully approved available to a patient facing a serious illness. This only typically happens when a patient has exhausted all other treatment options, but it is an important option to understand. Similarly, researching drug companies may be a path to “off-label” drug use. Off-label drug use involves taking a drug that has been approved for treating one condition in the hopes that it may treat another condition that it has not yet been approved for.
Contributing: SurvivorNet Staff 
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