You are not alone: Stories of FCS
Finding a community of people who are dealing with the challenges of familial chylomicronemia syndrome (FCS) can provide support and a sense of belonging.
If you have a story to tell, please email us today.
FCS has made me a stronger person. As a result of this condition, I am independent and incredibly positive.
FCS patient, nutritionist,
Co-president of the FCS Foundation
I was diagnosed with familial chylomicronemia syndrome when I was five-weeks-old so I’ve lived with this condition my whole life. I cried a lot as a baby, but other than abdominal pain, my FCS was pretty mild throughout childhood.
My day-to-day symptoms got worse during college because I was stressed out all the time. I also began to experience severe fatigue that caused me to miss a lot of class, so I was even more stressed! In total, I’ve experienced about 30 episodes of pancreatitis for which I was hospitalized. The absolute worst was when I got pancreatitis and was in the hospital during my dad’s birthday. I hate worrying my friends and family. They are always concerned and I feel like a burden.
I have had a few medical complications as a result of FCS and have a dull ache and burning sensation in my stomach on a daily basis. I do my best to eat less than 10 grams of fat a day. I like to cook, but this is still a challenge. Most importantly, I am an advocate for others like me. FCS will never stand in my way.
I came across a book about a diet and recipes for people with high triglycerides. In the first chapter, it listed all the possible reasons a patient might have hyperlipidemia, and this included genetic causes. I diagnosed myself right then.
FCS patient, research scientist
I experienced my first symptoms when I was three months old. I was taken to the hospital because I was incessantly crying, had a rigid body and refused to eat—it was probably my first pancreatitis episode. The doctors were shocked at the high-fat content in my blood, but I did not receive a specific diagnosis. My parents were told to not have any more children and that I would not live long.
The recurrent severe abdominal pain started at 10-years old and continued on and off. I received my first diagnosis of pancreatitis in college, but they did not take blood tests to confirm triglycerides as the cause. I experienced more serious and frequent recurrent pancreatitis that prohibited me from finishing my doctoral degree.
I came across a book about a diet and recipes for people with high triglycerides. In the first chapter, it listed all the possible reasons a patient might have hyperlipidemia, and this included genetic causes. I diagnosed myself right then. I wasn’t 100 percent sure because I didn’t have skin problems, but it listed recurrent pancreatitis and I had high triglycerides.
I wish doctors had asked me more questions about my symptoms and tested me for some less common health issues. I wish I had been referred to a lipid specialist right away.
FCS patient, volunteer firefighter and operations manager
It was a long journey to get to a diagnosis because most people are not familiar with familial chylomicronemia syndrome and there is very little information available. As a result, people like me are misdiagnosed for months or years. I had to visit many different specialists to finally get an accurate diagnosis, and in the end it was my wife who found a name for my disease. The diagnosis was eventually confirmed by a doctor. There are a lot of rare diseases out there, so you have to ask the right questions and work with the right specialists to get to the right answers.
My advice to a newly diagnosed patient and their family is to not give up. How you feel today isn’t how you are going to feel for the rest of your life.
Caregiver to her husband Fred
When you love somebody and see them going through the vomiting and the sickness…it’s just heart wrenching. I could also feel his sense of hopelessness, but he was a trooper despite all of this. In some ways, he’s my hero. But to be brutally honest, I got mad at the illness and the situation we were in. Also, and importantly, seek out the care of a support group because it is helpful to hear other patients and caregivers share experiences that are similar to yours. You can also talk about your feelings and express your fears.
Scott works with a trusted medical team to manage FCS and reduce the disruption of pancreatitis.
FCS patient, business consultant
My doctor and I have a plan that aims to prevent pancreatitis and intervene if it’s unavoidable. Every other week I get my blood tested. We have a “trigger triglycerides value.” If my triglycerides reach this number, we will test my blood again in a week. If numbers continue to rise, I will go on a fat fast—basically, I stop eating all fat—and retest a few days later. If triglycerides are still elevated, we will try other interventions or my doctor will preemptively admit me to the hospital. This means I don’t have to go to the emergency room.
Messages from the patient support and healthcare community
Why we co-founded the FCS Foundation: Living with familial chylomicronemia syndrome (FCS) is nothing short of a challenge. We know this because we have been personally affected by it. FCS is a frustrating genetic condition that causes health problems…even when we are trying our best. Some patients and their families experience pain, discomfort, guilt and anxiety every single day due to living with FCS.
We started the FCS Foundation to help patients and their families find a community of people just like them. Living with a rare disorder can feel extremely isolating. We promote a message of education and support. Patients and their families will benefit from sharing their experience with others who understand and care.
Lindsey Sutton and Melissa Goetz
Co-presidents of the FCS Foundation
Coordinated healthcare is essential for patients with a rare disease: FCS is an underdiagnosed genetic disorder that can have a tremendous negative impact on the lives of its victims. It’s essential that patients, caregivers, healthcare providers and the entire healthcare community work together to increase awareness, education and resources around this devastating condition. Most importantly, these stakeholders can support the communities of FCS patients around the world. It’s helpful for them to know that they are not alone in their daily struggles.
James A. Underberg
MD, MS, FACPM, FACP, FASH, FNLA,
2017 president-elect of NLA
How I diagnose pancreatitis: How do I diagnose pancreatitis in my patients? First, the patient presents with severe abdominal pain, like a bomb went off! This is frequently triggered by food but on occasion may be sudden onset. The second finding is a significant elevation of the amylase and/or lipase, at least three times the upper limit of normal. Lastly, I will look for radiological evidence of inflammation in the pancreas (by CT, ultrasound or MRI). Two out of the above three makes a diagnosis of acute pancreatitis.
MD, MMSc, pancreatologist
A call to action from an expert who understands—and has personal experience—with genetic conditions: FCS may not affect many people, but the disruption and devastation of those affected—along with their families—is intense and life altering. Despite the fact that this is a genetic disorder, symptoms may emerge as early as a few days after birth or not until adulthood. I’ve been distressed to hear patients’ stories of struggle to understand their disorder and frustration of finding healthcare providers knowledgeable about FCS. Sadly, patients are often made to feel that it’s their fault—that they are just not following doctor’s orders.
I could relate to these emotions mostly by remembering how in the past patients with the genetic disorder familial hypercholesterolemia (FH) faced similar issues. In my own family, there was little understanding of just how premature cardiac disease occurred in a healthy, active father of five (who had a history of the premature cardiac disease in both parents). The good news is that there is now a better understanding of FH diagnosis and treatment. The goals and dreams are to see FCS understood and that patients will have the same opportunity for appropriate identification, treatment and a productive life.
Providers need to be informed as to where to find lipid specialists who are experts in this field and to whom they may refer patients. Patients and their families need educational support about FCS to become fully engaged in treatment, including emotional support and dietary requirement information. Many FCS patients live in isolation, experience employment difficulties and have trouble socializing due to FCS and its consequences.
Specifically, they need:
- To understand that FCS is an inability to digest fats
- To understand the association with other diseases
- To have contact with others who understand their world and problems
We have come a long way but much more is needed. For the patients and families the message is clear: We hear you, we all hear you, please join in the fight!
Joyce Ross, MSN, ANP, CS, CRNP, CLS, FNLA
2016 president of the National Lipid Association
The importance of connecting with the broader rare disease community: People with FCS are part of the rare disease community; we have differences, but also much in common. One of the most important things patients and caregivers can do is connect with each other over shared experiences, that is when the magic happens in rare disease. When people come together over a shared mission, it sets the stage for individuals to learn, be inspired, develop community, increase awareness and create real progress. Nothing is more important!
Founder and CEO, Global Genes