‘Not Smooth Sailing’
Patient with Rare Disease Navigates Becoming the Captain
“My first memory of rare disease is one filled with fear and uncertainty,” said Abbey Hauser, a young adult rare disease patient and advocate, who shared her story during NIH’s Rare Disease Day.
When Hauser was six years old, she dislocated her knee while playing with toys in bed. Her family was outside having a yard sale; at first, nobody heard her screams.
“Unfortunately, it would not be the last time I’d feel alone or experience fear or uncertainty [which I would for many years] in relation to my medical care and diagnosis of Classical Ehlers-Danlos Syndrome,” she said.
Hauser grew up in Minnesota—the land of 10,000 lakes—where she was often around and on the water. Despite her EDS—a group of hereditary connective tissue disorders—she was a coxswain on the University of Minnesota rowing team. Hauser’s love of the water steered her toward the nautical theme for her lecture that day.
On her rare disease journey, she said, “I quickly learned from a young age that I was not the captain of this ship.”
For young patients with rare disease, the transition from pediatric to adult care can be turbulent. Hauser likened rare disease to a boat. Everyone involved in the patient’s care has different roles to keep the boat afloat and functioning. The kid owns the boat but is not in charge, she noted. At age 18, the patient becomes the captain, regardless of whether they want or feel ready for that role.
“My rare disease boat was inefficiently run most of my childhood,” Hauser said. There was no one specialist coordinating her care and the chain of command was confusing. “I stayed afloat but it was not smooth sailing.”
The week after Hauser turned 18, she had surgery on the knee that started her rare disease journey. For all appointments leading up to the operation, she was a minor. Suddenly, she was the captain, signing documents and making decisions for herself in the adult wing of the hospital.
“I became the captain officially at one of the most vulnerable times we can have as a human—right before surgery,” she said.
During recovery, Hauser wanted to become a better captain. She used her new legal powers to request all of her childhood medical records from the various institutions involved in her care.
She had seen many specialists over the years. “My transition had consisted of waiting until I had symptoms that became intolerable enough to seek out care,” she said. She would then randomly pick a specialist from a web search and start the process all over again, repeatedly explaining her condition, sometimes receiving blank stares when calling it by name.
Hauser offered several suggestions to help spare other young people from such a rocky transition. “We need coordinated clinics helping pediatric patients find adult care or support,” she said. From the time of diagnosis, educate patients early and often on the condition. And, she advised, parents should follow the child’s lead during the transition.
“We can help the kids of the future become strong leaders in their care.”