Mama we are all different colors and we are all beautiful.

For our final Throwback Thursday we bring to you the story of Mariana, a young girl diagnosed with Pfeiffer syndrome, a rare genetic disorder affecting the skull and facial bones. Through her mother’s heartfelt storytelling in a three-part series, readers witnessed the challenges Mariana and her family faced, from the shock of the initial diagnosis to the complex medical procedures and emotional hurdles that followed. Each story reveals their unwavering resilience, hope, and the importance of support from loved ones and dedicated medical professionals. Mariana’s journey offers a candid look at life with a rare disease, highlighting both the difficulties and the moments of triumph along the way.

• To read part 1 of Mariana’s story, click here.
• To read part 2 of Mariana’s story, click here.
• To read part 3 of Mariana’s story, click here.

CAROLINA AND MARIANA TODAY:

Relentless in Her Mission: Carolina Sommer’s Legacy of Rare Disease Advocacy Grows

Carolina Sommer has never paused in her advocacy—not for Pfeiffer Syndrome, and not for the more than 30 million Americans living with a rare disease. Through her leadership, storytelling, and relentless collaboration, she continues to change the landscape of rare disease policy and care.

She is the founder of Born a Hero and the Co-Founder of the NW Rare Disease Coalition—two powerhouse organizations that elevate patient voices, convene stakeholders, and drive systemic change. Each year, Carolina organizes the Seattle Rare Disease Fair, a vibrant, community-powered event that brings together patients, researchers, payers, and providers. That model is now expanding to other states, spreading awareness and hope nationwide. Because as Carolina says, “through building community we can create better policy”

Carolina is more than a founder and organizer—she’s also a published author, a lobbyist, and a strategic partner to health plans, hospitals, and industry:

• Partnering with health plans to identify children with complex medical needs and enable smarter, more compassionate support systems.
• Collaborating with children’s hospitals to improve care coordination—boosting health outcomes while lowering costs.
• Working with industry to capture the full financial and emotional impact of rare disease on families, helping payers make more meaningful, informed investments.
• And so much more—all with a spirit of fierce love and collaboration.

Advocacy Starts at Home

Carolina and her husband David recently welcomed their son, Nico, into the world—a passionate advocate in his own right, who proudly spoke at this year’s Rare Disease Fair as a rare disease sibling.

And her daughter, Mariana, continues to inspire all who meet her. Despite enduring more medical procedures than most adults will face in a lifetime, she remains kind, wise beyond her years, and full of grace. Carolina recently posted:

“Mariana, my little lobbyist—I love seeing the youth elevating their voices!”

That voice is being heard: Mariana had three legislative meetings this month—advocating for the Accelerated Kids Act, Newborn Screening, and the Giving Kids a Chance Act. A powerful reminder that change doesn’t wait for adulthood.