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
Lindsey Sutton and Melissa Goetz, co-founders 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 people with FCS around the world. It’s helpful for them to know that they are not alone in their daily struggles.

James A. Underberg
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.

Andres Gelrud
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 people with FCS 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!

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!

Nicole Boice
Founder and CEO, Global Genes