Story by Mary Harmon, a person living with FCS
As a child, I remember experiencing the usual range of aches and pains – just like most kids. Overall, I felt perfectly healthy. When I started experiencing frequent abdominal pain around age 12 or 13, for a long time I assumed it was still normal. Even during the many times when the pain was so severe that my parents had to take me to the hospital, I never considered that I might have a serious illness or condition.
I had never heard of anyone who was facing similar recurrent pain, so I had no one I could talk to - friends and teachers didn’t understand what I was going through. And I had no answers. With each doctor visit I seemed to get a different possible diagnosis – everything from stomach virus to ulcers or drug addiction.
Things changed dramatically when I had my first bout of pancreatitis at age 26. I know there are many kinds of pain – I had experienced quite a few different kinds myself by that age. But this was different. The pain was so severe I was unable to move and thought I was going to die. Again, doctors concluded that I was having a reaction to drugs or alcohol. As a very moderate drinker who never used drugs, I found this implausible.
These attacks of pancreatitis continued. They were infrequent but always devastating. During one episode my neighbors had to take me to the hospital because I was in too much pain to drive. In the emergency room I was examined but the team could not explain my pain. Even though I was in pain and vomiting, they discharged me. My very kind neighbors could see that something was wrong, and they took me to another hospital.
Within 3–4 hours of being admitted, I had a heart attack. I was put into the ICU and was in a medically induced coma for 11 days. During this period, my internal organs started to shut down and I had a fever of 105. I was sent by helicopter to a larger hospital in Charlotte where I was treated for almost three weeks. Doctors told me they thought I had only a 50% chance of surviving.
Eventually, I was able to return to my job in the food distribution industry. My job at the time was very demanding, and it was difficult to share information about my health with others. I tried as best I could to be social and engage with my co-workers, but I had never realized before how much a health problem can make you feel isolated.
My health problems continued. Since my first experience I have had about 15 episodes of acute pancreatitis. As I got older I noticed that they were becoming more severe and closer together. Doctors were still unable to diagnose the cause. I was hospitalized more than 15 times and even had my gallbladder removed because of a misdiagnosis. Tests showed that my blood was milky, but doctors did not know why.
Over the years, doctors noted that I had extremely high triglyceride levels but still couldn’t provide a diagnosis. When I was married, doctors cautioned me that a pregnancy could be too risky. My health problems were putting pressure on my marriage and my relationships with family and friends. I think many of the people in my life thought I was a hypochondriac.
In 2013 my sister started doing some research to see if there was any information about my health issues or any medical specialists I could see. Through her research she found a doctor in Wisconsin who was a pancreas specialist. I got an appointment and traveled to Wisconsin hoping for an answer. Within the first few minutes of our visit, as I described my symptoms, the doctor said, ‘I know exactly what you have.’ He referred me to another specialist in Northern Virginia that was involved in a clinical research program, and through appropriate testing, I finally learned at age 51 that I have familial chylomicronemia syndrome – commonly known as FCS. I was so relieved to finally have a diagnosis! I was very fortunate because I was an appropriate candidate for the clinical trial underway at the center.
FCS is a rare, genetic disease characterized by the build-up of chylomicrons (chylomicronemia), the largest lipoprotein particle that transports dietary fat and cholesterol. In the body, an enzyme known as lipoprotein lipase (LPL) works to break down triglycerides (fats). FCS is a condition where LPL is genetically decreased or does not function properly. As a result, there is a buildup of triglycerides in the blood that can increase the risk of severe abdominal pain and potentially fatal attacks of pancreatitis.
I have been able to explain that I have FCS to all of the members of my care team – some had never heard of it before. I also take steps to manage my condition. While there is no treatment available yet, people with FCS can limit their risk of pain and pancreatitis by reducing the levels of fat in their diet and eliminating all alcohol. I do not eat any red meat or drink any alcohol. My diet consists mainly of lean chicken, fish and vegetables.
While finally learning what was causing my severe pain provided some comfort, FCS continues to have a strong effect on my life. I remain concerned about the risk of pancreatitis or pain that makes it difficult to work or meet up with friends and family. I must often use my vacation time to address health issues. There is always the risk that I will have to cancel plans at the last minute. And for so many years I felt like I was facing this alone. Then about a year ago I was finally able to connect with others who could understand what I was going through, and the experience was life-changing.
About a year ago, after living with FCS for more than 50 years, I met someone else who had FCS. It was so helpful and comforting to be able to share my story with someone who could understand what it is like to live with FCS. From that one visit, I knew that I had to try to connect with other patients. I joined the FCS Foundation, an online support group. I also joined an online community for people who have had pancreatitis. It has been amazing and empowering both to tell my story and to hear about their experiences.
There are also new some new resources about FCS that can be helpful. An FCS information guide developed by Akcea is available and I often use that to provide basic information about my disease to others. It has been a great comfort that family members and friends have a better understanding of what I go through.
Through all of this, one important thing I learned is that you can’t give up. You need to reach out and connect with other people for information and support. And you have to be your own advocate and do your own research. As I push myself to remain active, I rely on the connections I have made to the FCS community for the support and encouragement I need. I hope that these groups will be even more active as we learn more about FCS in the years ahead.
I also hope that more doctors will learn about the symptoms of FCS to help people get an accurate diagnosis earlier – especially in the ER where most patients end up when pancreatitis strikes. Doctors need to understand that this is a genetic disease and that there are now resources and information for patients that can be helpful once they get a diagnosis.