Diane
Behind every diagnosis is a person, a family, and a story worth sharing.
This Awareness Month, we’re highlighting real experiences from the lymphatic malformation community to help others feel seen, informed, and supported.
Erik’s Story: Growing Up with a Rare Diagnosis
In 2009, my son Erik was a perfectly healthy preschooler in the central United States. He was active, curious, and full of energy when, without warning, he developed severe lower back pain—so intense that he couldn’t sit or stand. What began as an ordinary day quickly became frightening and uncertain.
Our family doctor took X‑rays and referred us to an orthopedic specialist, who raised possibilities no parent is ever prepared to hear: a bone infection or leukemia. We were sent to a medical facility an hour from home, where Erik spent a week hospitalized while doctors worked to determine what was wrong by ruling out what it wasn’t. Leukemia was ruled out. Infection was ruled out. Tuberculosis was ruled out. Finally, a bone biopsy provided answers we had never expected. A pathology student was who recognized what we were dealing with.
Erik was diagnosed with kaposiform lymphangiomatosis (KLA). We were fortunate to have a diagnosis relatively quickly. While having a name for his condition brought some relief, it was quickly followed by the overwhelming realization that very few doctors—none in our region—had experience treating it. The pediatric generalist at the hospital helped draft the questions to ask and provided me with the names of clinics to reach out to. Many emails to various vascular anomaly clinics around the country led us to find an oncologist that called me within an hour of sending out the email asking for answers.
Finding the Lymphangiomatosis & Gorham’s Disease Alliance (LGDA) changed everything for us. The information and resources they provided helped us identify specialists familiar with Erik’s condition. There was no standard treatment for lymphangiomatosis—care focuses on managing symptoms, and each person is affected differently. For Erik, this meant tissue overgrowth and bone lesions in his right leg and pelvis, as well as lesions on his spleen.
Erik began treatment within the first year after diagnosis through the initial clinical trial for what is now commonly prescribed, sirolimus. That trial required seven trips—each 800 miles—to Cincinnati Children’s Hospital in the first year alone. More than a decade later, those trips continue but now requiring us to travel biannually. Between appointments and summer camps, Erik has made the trip to Cincinnati 33 times since 2010. Erik remains on medication and undergoes MRIs to monitor disease progression. We also attempted intravenous drug treatment to increase bone strength, but like many therapies for rare diseases, at the time it was considered experimental.
Over the years, Erik’s medical journey has included numerous challenges. He required surgery to correct a discrepancy in bone length and underwent three leg surgeries over a two‑year period. He also endured a nearly two‑week hospital stay due to a serious infection that appeared without a clear cause. Despite these setbacks, Erik has done remarkably well. With access to knowledgeable specialists and consistent care, he has continued to move forward and succeed.
Today, Erik is 21 years old, and his life looks very different than it did at the time of diagnosis. He has completed higher education in automotive technology and is doing exceedingly well while continuing his treatment regimen. His condition is still part of his life, but it no longer defines what he believes is possible.
Growing up, Erik found connection through LGDA patient and family conferences, where he met others living with the same diagnosis. As his mother, the on-line community was an invaluable resource to find connection and empathy with those that really understood the challenges.
Receiving expert care for a rare disease comes with significant financial and logistical challenges. Medical costs—including MRIs, medications, and hospital stays—add up quickly, and travel to specialists is essential. We have received support from organizations that assist with pharmaceutical and travel expenses, that have made it possible for Erik to continue receiving the care he needs. Quite simply, we could not do this without that support.
