The Answer to a Question James Had Been Asking for 31 Years

By

Taylor Kane

Jun 18, 2021 • 3 min read

Blog post originally written by the AllStripes community team. AllStripes was acquired by PicnicHealth in 2023.

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 over time.

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.

We know that every person's story is unique and deserves to be heard.

Create a List

List the names of all the doctors, hospitals, and other facilities your loved one visits regularly, along with those they have visited in the past. Try to go back as far as you can, striving for at least the last 5-10 years, but do your best. Even if you can’t remember them all, having a strong baseline can help you quickly identify gaps in records.

Ensure You Have the Appropriate Legal Status

It is important to make sure that you are fully empowered to make decisions on behalf of your loved one with Alzheimer’s. Your relationship status with the patient may not be enough to legally give you access to your loved one's medical information. It is a good idea to talk to an expert about securing special legal status, such as Power of Attorney (POA), a legal document that allows an individual to name someone as their decision maker should they no longer be able to make decisions on their own.

Gather and Organize the Medical Records in One Place

It’s important to have all of your loved one’s medical records together in one spot. This makes it much easier for you and your loved one’s physicians to accurately map the patient’s medical journey and more easily share information between doctors. Fortunately, tools exist to make record management and access simple. A free resource like PicnicHealth helps you collect and organize all of this information. PicnicHealth’s intuitive timeline allows you to pinpoint data across the medical history, eliminating your need for keeping heavy binders filled with paper records or keeping track of multiple software portal logins.

Review the Medical Records to be an Informed Advocate

The better you understand your loved one's medical history, the better you can advocate on their behalf. Access and understanding of this information will help you to ask informed questions with physicians. Through regular communication backed by the data in the medical records, you can help your loved one’s care team develop a more successful care plan.