The car slows to a stop a few hundred feet downhill from the Old Point Loma Lighthouse, perched atop the scenic entrance to San Diego Bay from the edge of the vast Pacific Ocean. Erica’s smile naturally glows with the sunlight streaming in through the car window. It’s chilly today, but the cliff-side views of the city skyline are inviting. We’ve spent the afternoon navigating steep, coastal terrain, and the first signs of fatigue are setting in, but Erica remains enthralled. The engine’s hum cuts off and is replaced by the whirring of the radiator fan and another, curious, yet constant popping sound. “What do you suppose that is?” I ask Erica, concerned the rental car I’m driving might be defective. “That clicking sound,” she says. “It’s my heart.”
The radiator fan stops and the opening of Erica’s heart valves becomes even clearer, like the sound of tiny bubbles escaping rapidly through wet sand. Her three open-heart surgeries and two catheter ablations (focused on regulating the sinus node in an attempt to repair her heart’s natural rhythm) have made themselves and her heart’s labor clearly audible. The park is closing and this is likely our only opportunity to climb the lighthouse steps. I make an offer to rest so her heart rate can settle, but Erica is already one foot out the door. “How many chances in life do you get to do these kinds of things?” she retorts, leading the way.
There is often too much focus on the diagnosis instead of on the person, and helping them to become somebody."
Breaking the mold suits Erica well. She won’t be held back by her medical condition and counters daily challenges with a contagious optimism. Even after being diagnosed with Hurler syndrome (MPS I) over ten years ago, and enduring countless medical procedures, including 70+ surgeries, she refuses to allow her life to be defined by any illness. “MPS is just three initials,” she says. “I’m still Erica. I’m still a person.” Despite the rarity and severity of her condition, which impacts only one in 100,000, Erica prioritizes developing her sense of self. “There is often too much focus on the diagnosis instead of on the person,” she says. “And helping them become somebody.” She has returned to San Diego to attend the 13th annual WORLD Symposium, a confluence of clinicians, researchers, drug developers, and patient advocacy groups working together to support research on lysosomal storage diseases. At the conference, Erica advocates for her community, driving home inspirational messages to a wide range of individuals living and working with rare diseases.
To Erica, defining herself, and by virtue, helping others, is perhaps the most essential treatment for Hurler’s syndrome. Amidst the staggering amounts of doctors visits, weekly enzyme replacement therapy (ERT), and regular necessary surgeries, the quest for self-discovery is by no means a secondary issue.“I have always believed,” Erica continues, “that it is my job to live the best way I can. Often, that means it’s my job to prove my doctors wrong… to make it through high-risk situations or surgeries better than expected. Although my life is different than most, I try to not let what I have prevent me from doing the things I like best.” Primary among these things is caring for her 10-year-old nephew, Zander, who often spends one night a week at her apartment back in Juneau, WI. “He is the light of my life,” Erica exclaims. They like to run around outside to catch bugs and butterflies together, and enjoy bird watching. “He is an encyclopedia of knowledge, so I get an education just by being around him,” she says. “Z has taught me to see the world a little differently. It’s wonderful.”
Within the MPS and lysosomal storage disease (LSD) communities, Erica guides others to make similar realizations. “Just because you do or don’t have a name for what’s happening to you,” she says. “It does matter, but it also doesn’t matter, because that isn’t who you are.” Erica hopes to unite members of the LSD community regardless of their specific diagnosis. It isn’t a mission with concrete goals, but rather, a decisive direction. Erica strives towards facilitating positive dialogue between people with and without rare diseases. “I just feel this passion to help others, especially other adults, realize that we do have these disorders, AND we still can have a life.”
She passes this message along through her involvement with Gene Spotlight, a Florida-based, non-profit organization that helps spread awareness of LSD diseases and Cystic Fibrosis, promotes grant funding opportunities for drug research, and does patient advocacy. “A lot of what I do is connecting researchers and patients to each other,” says Erica. She helps find funds for individuals and families who wish to attend related conferences, which is an important way for people to find community, become better educated, and learn which treatments are best suited to help with their conditions.
Outside of the office or conference hall, Erica brings visibility to the entire rare disease community. For the past five years, she has taken part in Running for RARE, which takes place at the Boston, New York, and Providence, RI marathons. Runners sponsor rare disease patients and a tent is set up from where patients the can cheer from. “It’s huge this year,” states Erica. The first year there were only 15 runners, but this year there are over 100 already registered.
I just feel this passion to help others, especially other adults, realize that we do have these disorders, AND we still can have a life."
Erica recognizes the importance of social media when it comes to finding support in the rare-disease community. “Facebook is the medium for people with rare diseases to find each other,” says Erica. “You meet a person or a researcher and they connect you to other folks.” These connections are a testament to Erica’s uncanny ability to network, and the high standards she upholds in advocacy, all with an undying positive attitude. She’s learned, through her own experience, the importance of having a supportive community of friends, family, and physicians and how to find and use those resources wisely.
Erica received her diagnosis at the age of 21—relatively late for an MPS I patient— following years of hardships she faced as a child, unsure of what was wrong. Throughout elementary school it pained her to try and do what everyone else could, like writing several paragraphs with a pencil, or sitting cross-legged. “Why can’t I do this, while other kids can?” she asked herself, frustrated. Erica grew up feeling different from her peers, and missed much school due to consistent, intense headaches. “As a kid I didn’t know what was normal, so I didn’t say anything to anybody,” recalls Erica. As Erica grew into a young woman, a myriad of mysterious health problems arose, and would continue to challenge her to maintain an able-bodied life.“My headaches just kept getting worse and worse as I aged,” she recalls. Her vision was suffering too. Her heart wasn’t working correctly. She needed carpal tunnel surgery. She started seeing a plethora of specialists, many of whom treated individual issues, but never thought that all Erica’s maladies were somehow related. Around the time she turned 20, she started seeing a congenital cardiologist, who first proposed she might have MPS. A year later she was diagnosed.
Rather than focusing on what made her life different and difficult, Erica reflects on her childhood with fondness. “Even though I had all these issues as a kid and it frustrated me that I was undiagnosed, in a way I’m kinda glad that I wasn’t, because it allowed me to have a relatively normal childhood. I didn’t feel great, but I worked part-time, played a few sports, and graduated high school.” Upon diagnosis, Erica quickly transitioned into receiving regular ERT treatments and continued operations to correct some of the long-term damage that had been caused to her organs. To deal with headaches, doctors implanted two ventriculoperitoneal shunts, and discovered that Erica suffered from hydrocephalus.
Erica also developed an incredible capacity for patience, as she spends so much time in the care of the medical system. “Sure, I never want a surgery or procedure, pain or more recovery, but kindness really does make it all a little easier when you then have providers who advocate for you as a patient.” She prioritizes creating easy and conscientious relationships with her doctors and nurses. “Providers and teams don't mind working with me,” she says. “Nurses and staff bring treats to make long stays easier and in the case of my endless shunt issues, there are several nurses who now request to have me on their caseloads.”
Staying true to form, Erica has waded through many difficulties, only to come out stronger. Now, she wants to maintain a healthy balance, both mentally and physically. “Sometimes I’m so busy thinking about tomorrow or what surgery is coming in the future, that I’m not really enjoying what is going on today,” she reflects. With so much new research and advocacy for MPS patients, of which Erica is often involved in, it can be hard sometimes not to dream about the future. “I am blessed to even have a treatment,” she says. “But if I were to be honest about what I might hope for, I'd have to say a drug that either complements my weekly ERT and helps my brain and heart issues (my biggest problems over all) or even something that might make my gene error work better. This has great potential with several drugs already being studied, be it chaperone therapies or potential gene therapies.” She admits that gene therapy would likely do little for her, since so much damage has already been done, but as an advocate, Erica hopes that these treatments will make their way into the hands of those who need them.
Erica climbs the narrow, spiraling staircase of the lighthouse with slow and determined steps. Leaning on the wooden banister for support, her drive to ascend the three flights of rickety stairs is unwavering. I look up at Erica and the the spherical Fresnel lens that lays poised at the top of the steep climb. She approaches the light and it projects golden fractals, splinters of raw sunshine in all directions. We traipse the final steps and the bay spreads itself out before us, the sun sinking towards the horizon. “Isn’t it beautiful,” she says. Erica turns to examine the six-foot-tall lens and its array of limitless prisms. The evening sun bounces a soft light off the massive glass and casts an amber hue. It illuminates Erica and her outstretched forearm, revealing a tattoo depicting her genetic mutation. “We did it!” Erica says, exuberant yet exhausted. She glances back down the stairs to remind herself of the small feats that bring her joy each day. “I try to have an abnormally normal life, despite this disease.”