Finding a community of people who are dealing with the challenges of familial chylomicronemia syndrome (FCS) can provide support and a sense of belonging.
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I first started experiencing symptoms when I was eight months old. My parents took me to see the doctor for excessive vomiting, however, we were told it was nothing and we were sent home. It would take three doctors and a few months before I would finally receive a diagnosis of FCS. This was a very stressful experience for my parents as they were told I only had 24 hours to live after extremely high concentrations of fat were found in my blood. Additionally, to access the resources and experts I needed, we had to travel to a large center by plane. Even after receiving my diagnosis, my family had to move a lot, and my father gave up lucrative job positions so that we could be closer to hospitals and treatment centers. Although my illness is relatively well managed today, I still struggle with fatigue, abdominal pain, and following the strict low-fat diet recommendations.
Despite these struggles, I was still able to have two successful pregnancies and now have two beautiful children. During my pregnancies, the doctors had to monitor me closely to ensure I was getting the nutrients I required, and in my 3rd trimesters I had to follow a very restrictive low-fat diet of only 4g of long chain fats per day. Additionally, apheresis (i.e., the filtration of blood) was required to lower my triglyceride levels when I was pregnant with my second child. Although being pregnant with FCS may seem like a challenge, I think it’s important for other FCS patients to know that they can still have children successfully.
I was considered in perfect health when I was born, it was only three weeks after bringing me home that I developed a fever, cold-like symptoms and was throwing up my mother’s breast milk. Specialists at the La Sarre hospital were baffled and unable to confirm a diagnosis for my condition until they took a blood sample. It was a big shock to them when they saw the vial of blood. My doctor had never come across such a symptom, it was only when conferring with a specialist at St-Justine that my FCS diagnosis was confirmed.
Growing up, my parents were very supportive and ensured that I never felt excluded in social situations. At friend’s birthday parties, they would prepare my own diet-compliant cake so that I could partake in the festivities with my friends. Meals at home were adapted to meet my restrictions – we all shared the same meal except my plate was adjusted to comply with my diet.
The greatest challenge I face is exercising control in regards to my dietary regimen – I’ll be honest, it’s not always easy and when I do cheat and I’m lucky enough not to exhibit any symptoms, I have these hopeful thoughts that miraculously I may be cured. The way I have found to steer clear from these misguided thoughts, is to simply accept my illness. Finally accepting FCS has had such a positive effect on my life. I didn’t let FCS stop me from running 7 half-marathons, traveling internationally and joining the police academy. Despite, FCS being rare, I don’t feel alone, I have met so many different people who struggle with illnesses that limit their dietary intake – I’m simply different and I embrace it.
Due to indigestion complications at 4 months, my mother stopped breastfeeding me, which unbeknownst to my parents at the time was a good thing. I was officially diagnosed at 18 months when I was hospitalized for an unrelated asthma attack. I was fortunate enough to be raised in an environment where my FCS symptoms were easily recognized by the doctors.
Then FCS became a way of life for me – I’ll be honest it wasn’t easy, especially as a teenager when all you’re looking for is to test your boundaries. I had to grow up quickly and learned to take responsibility for myself. When my brother came along – his diagnosis was confirmed even earlier than mine. We became each other’s support – I was blessed to have someone who could relate to me. We had each other as company while we waited for our blood tests and doctor’s appointments – it was then that I began to look around the waiting room and took note of all the patients who were glancing our way curiously – they were all alone. I gradually began to realize that there was need for a support network for patients living with FCS. I was lucky enough to have my brother but other patients affected by this disease may not have been as fortunate – so I eventually created a Facebook page. I wanted to fill this unmet need and create a network for FCS patients to connect and share their experiences, recipes and lifestyle tips. I’ve met many people living with FCS and have made great friends along the way.
An FCS diagnosis can be overwhelming and you may feel that your life may now have limitations – but we impose those limits on ourselves. I didn’t let FCS stop me from traveling around the world, earning my degree and living my life as I had planned. I certainly didn’t let my diagnosis stop me from being a mother to a beautiful boy – pregnancy was difficult due to the even stricter regimen I had to adhere to and I had to undergo multiple rounds of apheresis (i.e., filtration of the blood) to ensure that my triglyceride levels were within an acceptable range.
Living with FCS has its obvious challenges, because of its rarity, most doctors are not familiar with it – it falls onto the patient to become the expert on the disease. One of the struggles of a FCS diagnosis is when dealing with an expanding healthcare team, communication between them can be lacking at times. The only way to rectify this issue is to create awareness about FCS. Although you may experience feelings of isolation as a result of living with a rare disease, and understandably so, you can overcome this feeling of solitude by joining a FCS support network or community today. Remember you are not alone!
I was misdiagnosed at less than a month old. At the time, my healthcare team had given me a regimented low calorie diet that included fat. According to my mother, I was experiencing pancreatitis every one to two months. It was only at the age of 10 that I was diagnosed with FCS at the Centre Hospitalier de l’Université Laval in Quebec.
The most common symptoms I experience are severe stomachaches and my skin will typically turn a greenish tint prior to a pancreatitis episode. The biggest challenge I struggle with is my diet and abstinence from alcohol. I’m grateful that low-fat foods have become trendy and most importantly, available at all grocery stores.
There’s a lot of contradictory information out there on how to manage an FCS diagnosis. I’m blessed that my wife is a great support and an invaluable resource when my symptoms begin to flare-up. Connecting with other patients and attending FCS events has been quite enlightening for me – prior to attending a symposium, I was unaware that pancreatitis episodes can be fatal. In addition, it has offered me the ability to discern the difference between credible and unsubstantiated information and it has helped me to make the right lifestyle changes for me in regards to the management of my FCS.
I didn’t always take my illness seriously, especially not the pancreatitis. I’ve been admitted to the hospital on numerous occasions in my life due to FCS-associated symptoms as well as other complications. I’ve always had a large healthcare team and there were times where information from different specialists contradicted each other – connecting with other patients has helped me to compare information and has offered me access to great resources.
At the age of 50, I grow more concerned about the long-term effects of my recurring episodes of pancreatitis – especially after interacting with other patients and learning from their medical experiences. I now realize that it’s time to take charge of my FCS and give myself a chance to live a life free of complications.
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