One of the last things a parent wants to hear is that their newborn child has a rare disorder. However, that was the reality that Julia Terrell faced 13 years ago when her daughter Marissa was born and diagnosed with Sturge-Weber Syndrome (SWS). This rare disease of the blood vessels is most notably characterized by a port-wine birthmark, an area of skin where blood vessels harden over time. Symptoms are variable and depend on the location of the birthmark, but they can cause seizures, muscle weakness, learning disabilities, hemiparesis (paralysis of one side of the body), and eye conditions such as glaucoma, among others.

For Julia and her family, this diagnosis brought numerous challenges, including learning about SWS, weighing treatment options, and navigating Marissa’s care team of a neurologist, dermatologist, ophthalmologist, behavioral specialist, and musculoskeletal specialist. Over the years, Marissa’s port-wine birthmark has undergone several laser treatments to reduce the size; however, she will likely have to deal with seizures and glaucoma for the rest of her life.

Julia was introduced to patient advocacy when she started volunteering for the Sturge-Weber Foundation (SWF). While she has worn many hats over the years, she is currently the director of community relations and serves in many ways. This includes facilitating patient engagement, being a patient advocate, planning conferences about SWS, and advocating to Congress with the Rare Disease Legislative Advocates and Global Genes organizations. In 2021, Julia contributed to a research paper examining the perceptions of patients being treated with laser therapy, to understand their experiences and learn how to better serve patients. She also works side by side with scientists to bring scientific advancements into the public eye.

Several years ago, Julia participated in a meeting that brought together researchers and patients. Through effective communication, both sides left the meeting with new ideas and a reminder of the “why.”

“I think this role is tremendously important, [but is] oftentimes overlooked because, as a patient [or] caregiver, we may see what needs to be done, differently than those doing the research,” Julia said.

In 2021, Julia was nominated by the SWF to participate in the Peer Reviewed Medical Research Program as a consumer peer reviewer for the Vascular Malformations Topic Area. In this new role, she continued to interface with scientists by participating in peer review of research applications. Here, her input helped direct the future of Vascular Malformations research.

Julia was amazed by the commitment of the rare disease research community, and she believes that research in this field is incredibly impactful to patients and caregivers. “When I look back, it is an experience that is like no other, because with just a little advice you are furthering science, and I still can't believe how it feels,” Julia said.

Outside of her advocacy, Julia loves to read and swim. As a mom, she enjoys spending time with her daughter and family. She is a Girl Scout leader for her daughter’s troop and helps with her school’s carnival. Marissa, now a teenager, is active in dance, horseback riding, and art.

The views, opinions, and/or findings contained in this paper are those of the author(s) and should not be construed as an official Department of the Army position, policy, or decision.