PostedJune 18, 2021 · 3 minute read
How making a friend in the rare-disease community led to an accurate diagnosis of PROS.
By Taylor Kane
James was born with physical signs of overgrowth. “My left leg is bigger than my right leg,” he says, “but my right hand is bigger than my left hand. You can’t really see it in my face unless I point it out.”
At 5 years old, he was diagnosed with Proteus syndrome, a rare disease causing overgrowth of bones, skin and other tissues. James, who lives in Wales and is now in his late 30s, explains that he knew his Proteus syndrome diagnosis was likely “guesswork” and that his overgrown leg and hand probably had a different cause.
Over a decade ago, he began attending conferences held by the Proteus Syndrome Foundation in the U.K. At one of these conferences, he met Mandy, a patient advocate formerly misdiagnosed with Proteus syndrome and was now properly diagnosed with a condition called PROS, or PIK3CA-related overgrowth spectrum. A few years later, James got in touch with Mandy online to discuss his own journey. “I reached out to Mandy, and our friendship started there,” James recalls.
Mandy helped James get in touch with the right doctors. After going through many tests and giving a tissue sample, doctors confirmed that James did not have Proteus syndrome, but still could not confirm the cause of his overgrowth. Thirteen months later, James received a phone call that changed everything: He, like Mandy, had PROS, which is caused by a variant in the PIK3CA gene.
James reveals that receiving this new diagnosis was somewhat strange and confusing. There was a sense of loss, but still he was incredibly happy and relieved to finally know the cause of his symptoms. “I felt content that I finally gained what I set out to learn.” He was also glad to discover that PROS was not usually progressive, and there was a high likelihood that his condition would not worsen overtime.
But even with an accurate diagnosis James continues to face various challenges. Day to day, James lives in constant pain caused by the swelling in his overgrown limbs. He explains the pain has caused him to miss out on social events, which was especially difficult for him when he was younger and had a buzzing social life. James recalls many times he’s had to cancel plans with friends. “I’ve never really said why exactly. But I think they’ve always known,” James says. “I just say I’m tired or not feeling too good.”
James has also faced issues regarding his care. He’s frustrated that many of his medical records still reflect his former diagnosis of Proteus syndrome. He explains that the division between the U.K.’s National Health Service and specialized practices can cause confusion over patients’ current health status. He is also constantly fighting to retain access to medication that helps him manage his pain. On top of that, he often has to travel from his home country of Wales to England to meet with specialists.
Nonetheless, James says his life has changed in positive ways since his PROS diagnosis. He describes his younger self as shy and reserved, but “since receiving the diagnosis [he has] really pushed [himself] to be more open and talk about [his] life.” He does this because he wants other people with rare diseases to know they are not alone.
James has also thrown himself into patient advocacy and has watched firsthand the rare-disease community grow in the United Kingdom. He is sharing his story by participating in events to raise awareness of PROS and wants to emphasize the value of connecting with the rare disease community. If he had never met Mandy, he may have waited much longer to receive an accurate diagnosis.
“I don’t want anyone to have to wait 31 years like I did.”
James says he signed up for AllStripes because he wants to be as involved in the rare-disease community as possible and have his medical records collected into a single database. AllStripes does all the work for patients and caregivers by collecting and compiling their medical records into one organized, digitized profile. James also chose to become an Ambassador for the PROS research program because he wants to be a resource for other newly diagnosed PROS patients and help them navigate their journeys.
If you are a patient, or family member of a patient, with PROS and are interested in contributing medical history to advance research, learn more at allstripes.com/pros.