A mysterious condition
Fred and Lynne have been married for 40+ years. When talking about Fred’s illness, Lynne often looks back to when she said, “I do,” and thinks about how she had no idea at the time what “in sickness and in health” would really mean.
During their third year of marriage, Fred learned that his brother was diagnosed with cancer, as well as a rare condition. Since the condition was hereditary, Fred was also tested. Although he had no symptoms, he tested positive for what at the time was
considered hyperlipidemia, which today is known as familial chylomicronemia syndrome (FCS).
FCS occurs in about one in one million people and is a genetic disorder in which the body cannot break down certain fats correctly. This disease frequently leads to symptoms such as pancreatitis, a very serious condition that causes inflammation of the pancreas and can lead to death, and fatty deposits in the skin. With no treatment available at the time of diagnosis, Fred was told to modify his lifestyle to keep his triglycerides down.
At first, incorporating these changes seemed relatively minor. Lynne and Fred switched to a low-fat diet, he tried to exercise more, and life continued as a young married couple. Fred felt good and pursued a career as a research chemist for about 20 years.
But in the late ’90s, things began to change. Subtle at first, his triglycerides rose from 200 to 500, even though his diet and
exercise regimen remained the same. His doctor placed him on medication in hopes of lowering his triglycerides, but they
continued to rise, going as high as 8000. A diagnosis of type II diabetes at this same time did not help.
An isolating journey
As the year 2000 approached and the world was speculating about what the new century would bring, Lynne and Fred didn’t
anticipate how much their own world would change. Like so many who suffer from FCS, Fred’s medical journey started to become an odyssey. Feeling discouraged and helpless, their search for answers began.
The sense of hopelessness Fred felt was contagious. Lynne did her best to be strong. Being a Registered Nurse helped her be his advocate since she understood the doctors and was able to translate it in a way both she and Fred could comprehend. Throughout their journey to grasp why this was happening, Fred experienced frequent episodes of pancreatitis, with abdominal pain, vomiting and diarrhea, and mental fog. As a result, Fred required a lot of down time. He continued to work as a chemist during the week, but the weekends he spent in bed, trying to regain strength and stamina for the week ahead. Being home was safe, yet isolating.
In 2015, Fred was officially diagnosed with familial chylomicronemia syndrome (FCS), three words the couple explains as being hard to pronounce, yet a relief to hear. After all those years of searching and hoping, the fact that Fred’s rare disease actually had a name legitimized his experience to the world.
Their moment of YES
The couple soon learned about a clinical trial for those with FCS, studying volanesorsen, a potential treatment designed to reduce the production of a protein produced in the liver that plays a central role in the regulation of plasma triglycerides and may also affect other metabolic parameters. Ionis believes its antisense technology could disrupt the production of this protein. After so many years of battling an unknown, debilitating disease, this news felt life-affirming on many levels.
Since the trial ended, Fred still has bad days, but recently, his good days outnumber the bad. Through this experience, the couple also found an FCS community and share their experiences. With the good days becoming more frequent and a support system in place, Fred and Lynne remain hopeful for their future.