PostedFebruary 12, 2021 · 3 minute read
Lindsey’s journey with her rare condition has evolved, and so has her ability to strongly advocate for her needs as a patient and person.
By Taylor Kane
When Lindsey’s mother was pregnant and had her first ultrasound, doctors thought her daughter’s organs were growing outside of her body. A follow-up ultrasound found this wasn’t the case, but Lindsey was prenatally diagnosed with Klippel-Trenaunay syndrome (KTS).
Lindsey grew up being treated at Boston Children’s Hospital for KTS. But in 2009, Lindsey suddenly faced a new diagnosis – it turned out Lindsey did not have KTS, but CLOVES syndrome. Like KTS, CLOVES is a type of PIK3CA-related overgrowth spectrum (PROS) disorder; a group of related conditions caused by mutations in the PIK3CA gene.
“It’s been well over 10 years, and even now in my chart, some doctors still go back and forth between Klippel-Trenaunay syndrome and CLOVES,” Lindsey says.
Since KTS and CLOVES are both PROS disorders, they are quite similar. However, Lindsey says that while KTS usually affects the lower limbs, CLOVES can cause overgrown tissue anywhere in the body and comes with a host of other symptoms, such as pulmonary embolisms, cysts, and spinal malformations. Before Lindsey’s diagnosis was reclassified, she says she was seen as an anomaly because her symptoms predominately impacted her upper body.
Upon receiving her updated diagnosis with CLOVES syndrome, Lindsey says she rejected it. A young teenager at the time, she decided she was going to continue saying she had Klippel-Trenaunay syndrome
“I was a young teenager and I was feisty and stubborn. If I’m going to have a rare disease, it’s going to have a name that matches the complexity of the disease,” she explains. “To me, Klippel-Trenaunay syndrome sounded so complicated and matched the state of what was going on in my life.”
A couple years ago, she made the switch and began referring to her condition by its official name. She admits that for a while, she didn’t really know the differences between KTS and CLOVES but has now taken the time to learn.
Lindsey describes her teenage years as rough, but says that her health took a turn for the worse in 2019. Her arm became stuck at a 90 degree angle and many other complications began to unfold. As she started having to see new doctors, many of them had never heard of CLOVES before meeting Lindsey.
Like many rare disease patients, Lindsey feels that doctors look to her as the expert on her condition.
“You’re not only expected to be a really good patient, but a really good researcher and advocate,” Lindsey says.
She has had to do her fair share of self-advocacy as a patient, and describes having to advocate for herself even more strongly because she is a woman. Lindsey explains that talking about pain as a woman is difficult: “Sometimes people assume you are being dramatic.” She finds being a female patient particularly challenging because she has to work extra hard to stand her ground and make sure her voice is heard by doctors.
A member of the Family Advisory Council for the CLOVES Syndrome Community and an AllStripes ambassador, Lindsey feels it important to advocate for other CLOVES patients, too. Lindsey was thrilled to join the AllStripes PROS research program, which is focused on growing knowledge about this group of conditions to advance new treatments.
“I feel like it’s one of the great privileges of my life to get to be part of medical research,” she says.
These research efforts can improve diagnosis and understanding of symptoms. When Lindsey was an infant, her mother was told by doctors that she did not have to worry about her daughter experiencing pulmonary embolisms caused by her condition. When Lindsey was 11 years old, however, she had her first pulmonary embolism. Today, thanks to further research, doctors understand that both KTS and CLOVES can cause pulmonary embolisms.
Lindsey still deals with bumps in the road and expresses that her health complications and hospitalizations are never easy for her. Still, she understands her own strength as a patient and advocate. If she could go back to when she was diagnosed with CLOVES, she says she would tell herself:
“The road ahead is going to be difficult, but you are equipped for it and you are not alone in it.”
If you are a patient, or family member of a patient, with CLOVES are interested in contributing medical history to advance research learn more at allstripes.com/PROS.