Living with familial chylomicronemia syndrome

For some individuals and their family members, the period leading up to a diagnosis can be quite stressful.  Unfortunately, some individuals suffer repeated bouts of pancreatitis before the condition is identified.   These episodes are often exceptionally painful, and usually require hospitalization; sometimes individuals even require intensive care.  All of this can be difficult for patients and their family members to deal with, physically, emotionally, and financially.  The repeated hospitalizations make it difficult to maintain a normal work, school, or home life.

Individuals respond differently to a diagnosis of familial chylomicronemia syndrome.  In some cases, patients and family members may be relieved to find a definitive diagnosis after repeated hospitalizations.  After all, symptoms of the syndrome markedly diminish when individuals follow a strict diet.   After feeling powerless, individuals may finally feel that they have some control over their illness.  But patients and their families may also have feelings of grief and sadness about the diagnosis, since the condition is not curable at this time.  Living with this disorder requires a major lifestyle adjustment, and individuals may grieve the loss of their normal life.  Patients and family members may feel angry about their diagnosis, and they may experience denial about their condition before finally coming to accept it.  A parent of a child diagnosed with the disorder may feel all of these things, as well as guilt at passing on the disease to their child.  Eventually patients and their families come to accept the condition as real, and they begin to move forward with their lives.

Some individuals with familial chylomicronemia syndrome report feeling different and misunderstood.  Apart from the xanthomas, there are no physical signs of the disease.  Other people may not understand how serious the condition can be; because it is such a rare disease, most people are completely unfamiliar with it.  This can lead to a sense of isolation.

Though individuals with familial chylomicronemia syndrome can lead relatively normal lives, certain challenges remain.  Even if a patient follows the diet perfectly, some symptoms may never entirely go away.  Many patients with the condition find the prescribed diet very challenging, at least at first.  Food plays a large role in our social lives, more than we typically realize.  Patients with the disease may feel that their diet limits them socially, and they may tire of explaining their dietary needs.  Eating out is often difficult, if not impossible, for these individuals, making travel a huge challenge as well.

A patient’s relationship with food is sometimes a complex one.  The individual may feel deprived and resentful about their diet.  Other times patients may feel guilty and regretful when they veer from the diet and then experience symptoms.  Children may have difficulty understanding why they can’t eat like everyone else, and parents may struggle with strict enforcement of the diet, which is so central to symptom reduction.

Patients can regain a sense of control by learning as much as they can about their illness and taking charge of their own health choices, including diet.  Networking with other patients and family members can help individuals keep up to date about practitioners, research developments, clinical trials, and new treatment options.  Many patients benefit from communication with others who have the disease.  Now, with websites and online forums, this is much easier than it used to be.  Individuals can share not only practical information but also empathy and psychological support.    The syndrome is not easy to deal with, but with education, medical support, and self care, these patients can lead full and fulfilling lives.