Mandy explains she has a “mutated PIK3CA gene” which causes cells in certain parts of her body to divide too quickly and survive longer than they should. This leads to an overgrowth of bodily tissue.
Variants in the PIK3CA gene can lead to a group of conditions called PIK3CA-related overgrowth spectrum, or PROS. Most people with a PROS condition have a “somatic mutation,” which is a genetic change that occurs after fertilization (so not inherited from either parent). Unlike inherited mutations, somatic mutations only affect certain parts of the body.
PROS has numerous subtypes, but Mandy’s specific variant does not fit into any of these types, which is why she received the umbrella diagnosis of PROS in 2012. Actually, she was the first person in the world to be discovered with her specific variant. Incidentally, the PIK3CA gene is also related to certain types of cancers, particularly breast cancer. Mandy explains that research into PIK3CA-related cancers has a trickle down effect for the PROS community.
“I was so excited to get a diagnosis, because I never thought I would, that I got myself a tattoo. It marked my identity in a sense… I finally knew what I had,” she says.
Growing up, Mandy’s doctors were unsure of her prognosis and she was misdiagnosed with both lymphedema and Proteus syndrome. She ended up getting sepsis caused by recurring pressure sores and infections in her foot and leg, which led to a partial leg amputation.
“Thankfully, I’m still here. I don’t have any more infections in that leg at all, which is something to be grateful for,” she says. However, Mandy was unable to use a prosthetic leg because of the size of her stump.
Soon after her diagnosis, Mandy was put on a repurposed drug that was created to prevent organ rejection in people who receive kidney transplants. She says the drug worked really well to shrink her overgrown legs: her weight decreased by around 50 pounds. Unfortunately, the drug stopped working about two years ago. Currently, Mandy’s doctor is in the process of trying to get approval from England’s National Health Service to receive access to an experimental drug that was created to treat breast cancer.
In 2017, Mandy set up a charity called GoPI3Ks to support other PROS patients in her home country of England and beyond. While she believes people in the United Kingdom are very lucky to have their health care costs covered by the National Health Service (NHS), there is still a lot of work that needs to be done to raise awareness of all PROS conditions among medical professionals. For example, a nurse recently decided to list Mandy’s condition as elephantiasis, because she assumed the doctors would not be familiar with PROS.
Social media has helped Mandy meet what she refers to as a “rare disease family” and people who can relate to the challenges of having a rare disease. She believes there is a common bond between everyone in the rare disease community: “You may not have the same condition, but you know what it’s like to be rare.”
Mandy signed up for the AllStripes platform, which launched in the U.K. in February, because she sees it as a place where the PROS community can come together. She wants other people with PROS to understand that by signing up for AllStripes they benefit both themselves and their patient community. Her organization is also partnering with AllStripes to grow the PROS research program to move forward research.
