Severe diarrhea. Daily abdominal pain. Extremely high triglycerides. Chronic pancreatitis. Joint pain. Incredibly uncomfortable conditions for anyone. Now imagine you’ve experienced this pain your entire life without knowing what was the cause.
Global Genes’ RareDaily shares the journey from multiple symptoms to the diagnosis of familial chylomicronemia syndrome (FCS).
FCS is an extremely rare, life-threatening condition that prevents the body from digesting fats. It can lead to high concentrations of triglycerides and chylomicrons in the blood. One of the most distinguishable characteristics of FCS is that blood looks creamy or milky after it is collected. FCS is so rare; many healthcare providers have never heard of the condition and may not know how to diagnose it.
We’re all familiar with the drive and motivation modeled by those who don firefighting gear. They run into burning buildings when everyone else is running out. Heroism and selflessness above all. They’re tough guys and gals. But what if you’re also dealing with chronic diarrhea and headaches, joint pain and abnormally high triglyceride levels?
For this firefighter, he and his wife implemented a strict exercise regime and low-fat diet. He took statins and a number of other medications to help manage the pain and discomfort, but nothing seemed to help. Certain that there must be answers out there, he and his wife continued to research the grouping of symptoms that had bothered him since childhood.
After multiple attacks of pancreatitis that landed him in the hospital, his wife found information about FCS. Every symptom, every condition was explained within the contexts of this disease. They contacted their doctor and requested a blood test with a lipid disease specialist. After years of struggling with numerous conditions, they had a diagnosis and developed a plan for the future.
Now, the entire family is involved in planning and meal preparation. Meals are created with less than 10 grams of fat per day. If the family is attending an event where food is being served, the kids pre-emptively check out the food and quiz others on what ingredients have been used.