When Pat Jordan, 65, was officially diagnosed with hereditary ATTR (hATTR) amyloidosis in May 2016, her first thought was, “Well, now I know how I’m going to die.” Her second response, however, was one of relief, because the diagnosis finally put a name to the various medical problems she had been experiencing over the past 20 years.
There are many forms of amyloidosis, some of which are similar to blood cancers. hATTR amyloidosis is not cancer, but it is a debilitating, life-threatening disorder caused by a gene mutation that affects transthyretin (TTR), a protein made primarily in the liver that helps carry substances like thyroid hormone and vitamin A throughout the body. hATTR amyloidosis can affect the peripheral nervous system, the autonomic nervous system and the heart, and because there is currently no cure, it’s considered a terminal disease.
Pat is also a single parent whose children, both young adults with disabilities, live with her and depend on her care. Because each had a 50% chance of inheriting the gene mutation, Pat had her children tested immediately after her own diagnosis. Fortunately, they do not have the mutated gene and will not get the disease.
There are some very new treatments recently approved by the FDA that can relieve hATTR symptoms and prolong life. In early 2018, Pat met with Dr. Samantha LoRusso, a neurologist at The Ohio State University Wexner Medical Center, and began receiving a then-experimental treatment with a medication called patisiran (now known as Onpattro) through the hospital’s Clinical Research Center. Pat began those infusion treatments in March 2018 and “graduated” to private, home IV treatments seven months later.
In addition to neurology services, Pat was referred to the hematology specialists at the OSUCCC – James, which is home to the Comprehensive Amyloidosis Clinic, a one-stop shop for patients battling this rare disease. Pat has visited The James several times since her first appointment in July 2018, and she is impressed by the clinic’s process of having the various doctors and a physical therapist rotate through to see her instead of traveling to individual appointments at numerous locations. As a result of these appointments, Pat learned that she does not currently have amyloid deposits in her kidneys or heart.
Due to the nature of her disease, Pat spends most days just focusing on survival. “[hATTR amyloidosis] is extremely fatiguing,” she said, “so my inspiration is more in daily victories like vacuuming the living room or making a trip to Kroger without a nap afterward.”
She loves gardening and has been trying to convert her suburban yard to native Midwest perennial plants, but that has proven difficult due to her ongoing fatigue. Instead, Pat has decided that a more realistic legacy will be collecting and distributing these plant seeds to other gardeners.
Along the way, Pat has remained relatively optimistic and has two pieces of advice for anyone going through a similar battle. First, try to laugh every day. “There is humor and joy everywhere if you look for it,” she said. And second, find a good specialty doctor like the ones at The James." All patients should be lucky enough to have a physician who remembers you and your family personally and who greets you with a warm hug at each visit.”