Heidi Jo’s Familial Chylomicronemia Syndrome Story

Heidi Jo Price, beautiful and brave, has jumped out of airplanes with a pack on her back as a member of the 173 Airborne Brigade Combat Team.

What brought this fearless veteran down? The incredible pain and danger, of pancreatitis. This was not a one time occurrence, but rather multiple times in one year. Why? It took many tests and ultimately a referral to a blood lipid specialist to discover she had the rare- really rare, one-in-a-million disease known as familial chylomicronemia.

Not only is Familial Chylomicronemia rare, but there isn’t a single drug to treat it.

One potential medication was rejected by the FDA (read about this here.) Another treatment, a gene therapy known as Glybera, originally from Canada, is no longer available. In Europe, only one person has been treated with it, and it’s generally unavailable despite the life threatening nature of FCS.

What can be done to attempt to keep life threatening pancreatitis at bay? A dietary regime that makes having diabetes seem like a picnic.

Familial chylomicronemia syndrome (FCS) is a rare, hereditary condition characterized by a lack of properly functioning lipoprotein lipase (LPL). LPL is an enzyme that plays a critical role in breaking down fat in the form of triglycerides, which are carried from various organs to the blood by lipoproteins. When LPL breaks down these triglycerides, the fat molecules are used by the body as energy or stored in tissue for future use.

For those with FCS, this disruption of enzyme activity leads to very high concentrations of triglycerides, especially chylomicrons in the plasma.  FCS is a genetic disorder. It is caused by an autosomal recessive genetic defect. Both parents must carry the mutation, and both must pass it onto the child. If both parents have the mutation, there is a 25% chance the child will develop FCS.  It is almost never discovered in childhood, and often not even in adulthood, until pancreatitis occurs.

All conditions which require extreme dietary restriction and rigor also have social implications- how many invitations and events revolve around food? Almost all.

People have been “breaking bread “ together since the beginning of mankind. How much is food not just fuel, but a pleasure? Enormously so.

Like many others, Heidi Jo has to either eat the same dishes day after day, or spend a lot of time figuring out what she can safely eat to change things up a bit.

In general we know that eating a large variety of foods helps keep us well nourished, but when one can eat almost no fat, this severely restricts what one can cook and eat. All of this can lead to social isolation and low mood. Thankfully the FCS Foundation, has a cool holiday cooking video on its website .

Fortunately also for Heidi Jo, is this:  She has a strong faith and participates in a strong faith community. And while she has a one in a million disease, she also has a one in a million spouse, William, whom she describes as her “rock”.


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