Rare Disease Month: Overcoming Obstacles on the Road to Gold

Suzanne H.

Suzanne H.

Sales and Marketing

Clincierge celebrates Rare Disease Month throughout February. Since 2008, rare disease patients, caregivers, and advocacy organizations have joined together to bring awareness to the almost 7,000 known rare diseases. February is Rare Disease Month because it contains the “rarest” number of days. The month culminates in Rare Disease Day, held annually on the last day of the month (February 28 this year).

In the United States, a rare disease affects less than 200,000 people. Rare diseases affect individuals worldwide, as shown by the staggering statistics below:

Rare Olympians Overcoming Obstacles

Rare Disease Month coincides with the 2022 Winter Olympics, running February 4th – 20th in Beijing, China. Athletes worldwide dedicate many years of their lives to preparing for these Olympic events held every four years.

Notably, over 90 countries have representation in Beijing, with more than 3,000 athletes participating in this highest level of athletic competition. Two athletes on the path to the podium are overcoming the challenges associated with a rare disease.

Daniel-Andre Tande, Norwegian Ski Jumper

Born in 1994, Daniel-Andre Tande competed in his first World Cup event in 2014 at 20 years old.

  • Tande enjoyed subsequent World Cup wins in 2014 and 2017.
  • January 2018, he placed first in the Ski Flying World Championship.
  • In February of that same year, Tande won a team gold medal in the men’s large hill team ski jump at the 2018 Pyeongchang Winter Olympics.

In May of 2018, Tande’s quality of life took a downhill turn when an inflammation of the mouth rendered him unable to breathe. He was diagnosed with Stevens-Johnson syndrome, a rare and often severe disorder affecting the skin and mucous membranes. Stevens-Johnson syndrome is often related to an allergic reaction to a medication, and the disease progresses rapidly.

This disorder usually requires hospitalization and is fatal in about 15% of cases. Because of the severity of his disease, Tande received nourishment through a feeding tube. As a result, he lost a good amount of body weight and muscle mass and had to pause his training schedule for an entire summer to rehabilitate.

Markedly, Tande’s treatment protocol included medications listed as banned products by the World Anti-Doping Agency (WADA). This agency is affiliated with the International Olympic Committee and removes performance-enhancing drugs from Olympic competitions. Once the treatment finished, Tande started on the road to the 2022 Winter Olympics.

Fighting for the Chance to Win

On March 25, 2021, a major accident threatened Tande’s return to the Olympic competition. His crash at the International Ski Federation (FIS) World Cup Final in Slovenia resulted in a punctured lung, two broken collarbones, and four cerebral hemorrhages. Medical personnel tended to Tande for 30 minutes on the ski slope before airlifting him to a local hospital. Fortunately, Tande did not suffer brain damage, and several weeks later, doctors repaired his collarbones with ten titanium screws in an ensuing surgery.

In May of 2021, the Norwegian Ski Jumping Team announced their roster of the 12 athletes for the 2022 Winter Olympics. Once again, Daniel-Andre Tande would be representing his country.

William Flaherty, Puerto Rican Skier

Born in 2004, William Flaherty was diagnosed with hemophagocytic lymphohistiocytosis (HLH) at the age of three. HLH is a rare and aggressive disorder caused by the body’s production of too many immune cells.

  • Flaherty endured many medical procedures before receiving a bone marrow donation from his older brother in 2008.
  • Since then, he has battled celiac disease, scoliosis, benign tumors, and holes within his bones.
  • According to doctors, Flaherty’s immune system will only be 70% effective for the remainder of his life, making minor viruses like the cold and flu much more dangerous for him.
  • Flaherty will face additional surgery and subsequent rehabilitation this summer.
Rare Disease Month Olympian William Flaherty

Flaherty has overcome so much to reach his Olympic dreams at such a young age. He is following a successful path created by his brother, the lone winter Olympian for Puerto Rico in 2018, with plans to compete in Beijing’s slalom and giant slalom events.

Rare Disease Patients Defying Odds

Presently, according to Olympic historian Bill Mallon, the odds of an athlete qualifying for the Olympics are 1 in 550,000 people. These odds are similar to those of being diagnosed with a rare disease. Combine the two, and the opportunity for a rare disease patient to reach Olympic-level competition is nearly non-existent. Read about other Olympians with rare diseases defying the odds in our previous article.

Overall, researchers work tirelessly to discover new advances for 95% of rare diseases currently without an approved treatment method. By celebrating Rare Disease Month and Rare Disease Day, we can work together to raise awareness of the need for additional treatments and increased support for rare disease patients during clinical trials. Companies providing patient support services to these individuals and their caregivers provide an invaluable service, helping rare disease patients on their path to victory.

Learn more about how we can help you increase enrollment and retention in your rare disease clinical trials.

Voice of the Patient Research

View the results of our recent research to explore how effective patient support strategies can reduce barriers, increase retention, and improve outcomes in rare disease clinical trials in our latest eBook.

Voice of the patient