Messages From the Patient Support and Healthcare Community


FCS in Canada : A rare disease like FCS, has an inordinate impact on the individual and the family at every step along the patient journey, often in ways which are unique and more challenging than other more common conditions. While FCS has many elements in common with other rare diseases it also has some unique features, including the unpredictability of the condition and the very serious consequences of a crisis. It is a disease that impacts the whole family as family members are also required to be extraordinarily vigilant; there is often a sense of loss of control because the disease may flare up even if you are doing everything right. Of course, disruptions to regular work or school schedules are stressful.

Diagnosing FCS is highly problematic, since the symptoms may be similar to more common conditions and physicians will likely offer a common diagnosis, which will delay an accurate diagnosis and may also send the patient down the wrong treatment path. When a correct diagnosis is obtained, the patient may still not have access to the appropriate specialist or care, because these may not be readily available. What frustrates me most when hearing stories about patients with FCS is the lack of HCP awareness, the delays in diagnosis, the misdiagnosis, the lack of effective interventions, and the lack of social and psychological support.

The solution is not only to feature patients and families to raise awareness of the impact of the condition but also to join with similar conditions: other dyslipidemias, hypercholesterolemia, and severe cardiovascular diseases in general. It is important to work with the HCPs to reach out to families and hopefully to create opportunities for families to connect. Bringing together the professional and support communities is also an essential step.

Interestingly, CORD was formed to support patients with another rare lipid condition – Homozygous Familial Hypercholesterolemia – and then expanded to include the Canadian Heart Patient Alliance, which supports a variety of hyperlipidemia conditions. We hope to connect with FCS patients and families through this network and also connect them to a broader lipid community sharing similar needs but also having similar advocacy issues to raise awareness and access appropriate interventions.

Durhane Wong-Rieger,
President & CEO of the Canadian Organization for Rare Disorders (CORD), PhD

Lindsey Sutton and Melissa Goetz, co-founders of the FCS Foundation

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
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

Finding a support network is key : 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