Today is the eighth annual International Rare Disease Day. According to RareDiseaseDay.org, the goal of Rare Disease Day is to raise awareness regarding rare diseases, rare disease research, and the circumstances that rare disease patients face on a daily basis.
In order to show you exactly how rare diseases can impact patients and their families, we’d like to share the story of one special little girl: Alma Claussen.
Alma Kaleolani Claussen is the daughter of Amy and Jereme Claussen. Alma was born on Tuesday, June 10 with biliary atresia, a life-threatening rare disease.
Biliary atresia impairs a patient’s bile ducts so that bile remains trapped in circulation, slowly poisoning the liver until the organ fails entirely. According to the U.S. Department of Health and Human Services, biliary atresia only affects one out of every 18,000 infants.
Alma experienced her first major surgery for bile duct repair at just two months old. The surgery was insufficient, and doctors informed Amy and Jereme that their infant daughter would need a liver transplant to save her life. Alma was multi-listed to increase her changes of receiving a liver transplant quickly enough to stabilize her system.
Amy and Jereme felt that the walls were crumbling around them. They did the best they could to make day-to-day life feel ordinary to Alma’s three-year-old big brother, Arthur, but Alma’s deteriorating health took a toll on their family. Amy and Jereme fought to find hope in the face of immense fear and uncertainty.
On February 23, Alma’s parents reported that their young daughter had secured and received a lifesaving liver transplant. As her color slowly began to fade from jaundiced yellow to rosy pink, Amy was finally able to hold her recovering daughter in her arms.
Alma’s journey highlights some of the most life-altering aspects of a rare disease diagnosis, including the need for urgent treatment and the emotional turmoil that families and friends face as they grapple with a disease that they (and even their medical providers) may not fully understand.
As RareDiseaseDay.org notes, there are over 6,000 identified rare diseases that disrupt the lives of hundreds of millions of sufferers across the globe.Most of these illnesses are difficult or impossible to cure. This Rare Disease Day, we celebrate the resolve displayed by families who are coping with a rare disease diagnosis and are facing the challenge “day-by-day, hand-in-hand.”
Medical costs add another layer of difficulty to the lives of rare disease patients and their caretakers. The expenses associated with a liver transplant alone can top $577,000, including pre-transplant care, post-transplant hospital stays, and a lifelong course of immunosuppressants.
You can walk hand-in-hand with these families by learning more about rare diseases and sharing your support on social media. We can work together to show these patients and their families that they are not facing their diagnoses alone.
HelpHOPELive is supporting Alma and her family as they fundraise for uninsured medical expenses, including recovery care, travel, food, and relocation costs. You can follow Alma’s recovery on her HelpHOPELive campaign page.