Gabriel Low, a 17-year-old from Hawaii, just completed a 3,000-mile bike ride across the country.
He’s been riding since June 11th when he embarked from Seattle, WA to raise awareness, promote support, and advocate understanding of rare diseases, which affect about 30 million, or about 1 in 10 Americans.
It’s a cause important to Gabriel because he has a rare genetic condition called Primary Periodic Paralysis, or PPP.
PPP is a genetic condition that causes episodes of weakness that affect your muscles, resulting in extreme weakness or temporary paralysis – most often the inability to move the muscles of the arms and legs. During the most severe episodes, those with the disease can become paralyzed and it can be difficult for them to blink or breathe. As people with PPP get older, many develop permanent muscle weakness, which may be irreversible.
Gabriel’s mother, Emily, also has the disease.
“My mother has been my inspiration for this ride. For the first 29 years of her life, she went undiagnosed,” Low explained.
One of the biggest challenges for the PPP community is obtaining a correct diagnosis once symptoms appear. The journey from the first symptom to a confirmed diagnosis can take as long as 20 years. Given the general lack of knowledge about PPP, symptoms are often mistaken for those of more common conditions that affect the nervous, musculoskeletal or cardiovascular systems.
Like with Gabriel, PPP is usually inherited from a parent to a child and may affect multiple individuals within a family. Family history should be viewed as a part of a PPP diagnosis. The good news is, PPP can be diagnosed through a simple genetic test or a special neuromuscular test. Although genetic testing can help confirm a suspected diagnosis, the absence of a genetic alteration does not preclude a clinical diagnosis.
Gabriel considers himself lucky. Once his mom was diagnosed, she was able to recognize the symptoms in him and at just 6 years old, Gabriel was also diagnosed with PPP. But unlike his mom, he was able to get treatment and support to manage his condition early in life.
Emily put in a lot of effort to help ensure Gabriel could grow up with PPP and avoid some of the challenges she faced. She also served as Gabe’s biggest role model. She was a national championship mountain biker at his age, but she struggled with the disease more as she got older.
“As my mom got older, she became more impacted by the condition,” said Low. “I started wondering how it was going to affect me.”
Despite his condition, Gabriel grew up playing sports and a few years ago, he fell in love with triathlons. It was earlier this year at the 2018 Lavaman Waikoloa, one of the most important races of Gabriel’s career, that he realized in the excitement of the morning, he forgot to take his medication. Towards the second half of the race, he started to feel his legs become harder to lift. When he crossed the finish line, he collapsed, paralyzed.
“This was the first time I had had a serious attack in years and it was one of the most mentally and physically challenging moments I’ve ever faced,” said Low. “It was at that moment I realized that this condition was real, and I could no longer pretend it did not affect me.”
Despite his struggle to complete the race, Gabriel finished and even qualified for the 2018 Age Group National Championships where he recently competed in Cleveland, OH – the last leg of his Ride for Rare Diseases. Despite biking 3,000-miles prior to the race, Gabe finished 13th in his age group, which qualified him for the World Championship next year in Switzerland.
As a result of his ride and efforts to raise awareness, Gabriel has attracted a lot of support. Strongbridge Biopharma®, a company that develops treatments for rare diseases and shares Gabriel’s mission of awareness, was inspired and decided to sponsor his ride. This enabled Gabriel to take the funds he raised through his GoFundMe Page and donate the money to the Periodic Paralysis Association. Gabriel proudly presented a check for $5,000 to the PPA in Cleveland at the finale of his ride.
“When my mom was my age, she rode her bike across the country and it changed her life,” Low said. “I wanted to do the same, and I hope I was able to make a difference while doing it.”
While the ride is over, his journey is not. Gabriel hopes to continue raising awareness on behalf of people with rare diseases like him, by starting a conversation and building a movement centered on rare diseases. Gabriel’s next stop is Dublin, Ireland where he will speak at the Periodic Paralysis Association international conference from August 17-19.
What are your thoughts on Gabe’s journey? Share your stories, thoughts, and hopes with the Patient Worthy community!
Acknowledgment: This post is sponsored by Strongbridge Biopharma® as a part of Patient Worthy’s Collaborative Content program. We only publish content that embodies our mission of providing relevant, vetted and valuable information to the rare community.