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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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.
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.
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.
The more I give out to my community, the more I get back. The more I give to the kids I work with, the more I get back. That doesn’t mean I don’t get exhausted, run-down, tired, or depressed. But I choose every day to go out there and be positive. I realize that this life if beautiful. And we have to go out and embrace it.
Living with FCS can be really daunting. The cramping all the time. The body fatigue, the aches and pains, the inflammation. And the stomach problems – that’s a huge thing. It can all kind of grind you down.
Seeing doctors before my diagnosis was extremely frustrating. I kept getting the same answers, which was to eat better and exercise more. It’s isolating and you can get defeated quite quickly. I’m really blessed that I have a wife who wouldn’t allow me to be defeated – because I would’ve given up years ago.
Connecting with other people who have rare medical conditions is empowering. It gives you a lot of hope. It gives you some direction that maybe you didn’t have before. You’re not alone in the wilderness. You’re not lost. It’s really powerful.
When I think to the future, my FCS will always be there. But I don’t think this is ever going to stop me. FCS is never going to stop what I’m doing in my life.
Life’s too important for that.
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