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Tuesday, December 16, 2014

What is that warning on the side of your Diet Coke?

And I quote your can of Diet Coke:


(I'm not yelling; the warning appears in all capital letters.)

What does it all mean, man? It goes back to babies' second day of life.

When very new to this earth, newborns endure a "heel stick" which provides a very small amount of blood used to test for a variety of genetic disorders. Exactly which disorders are assessed is state-specific, but phenylketonuria (abbreviated PKU) is universal.

If you're wondering why it is so completely necessary to "traumatize" newborns in this way, the answer is a pretty good one: The tested disorders often have no symptoms at birth, but can result in serious disabilities or even death if undetected.

Like blue eyes, PKU is a genetically "recessive" condition, meaning that both mom and dad need to contribute a the "PKU gene" in order for their child to have the disorder. This results in one in every 10,000-15,000 babies testing positive for PKU--a disorder than can lead to brain damage and mental retardation or worse if not managed appropriately.

Proteins are made up of amino acids. Classic phenylketonuria renders the body unable to break down one of the amino acids found in proteins, phenylalanine, causing it to build up in the body. We all have a small amount of phenylalanine in our bodies, but individuals with PKU accumulate toxic levels.

Signs of classic PKU appear at about six months of age (if untreated) and include irritability, seizures, eczema, musty body odor, pale hair and skin and developmental delays.

What's super tough about managing this disorder is phenylalanine's presence in all proteins, plus artificial sweeteners.

Yep, I said all.

Artificial sweeteners are easy enough to avoid, though it does require a lot of label reading, but how do you avoid protein?

It begins with by-prescription, phenylalanine-free formula and foods naturally or modified to be low in protein. A supplement that helps to break down phenylalanine may be added to handle whatever amount the child does encounter.

Handling the biological portion of this disorder is complicated, but think about having PKU and trying to attend a friend's birthday party or a fourth of July cookout.

How are these families supported? Through a handful of professionals.

Dietitians are intimately involved in the care of these individuals, knowing exactly how to balance the substances they need to avoid with gaining the necessary nutrients.

Support groups give the afflicted and their families methods of coping with the disorder practically and socially.

Genetic counselors may be utilized to gain understanding about the disorder and the chances of the same couple having another child affected, which ranges from 25 to 100-percent depending on the parents' genetic makeup.

A family physician is involved to orchestrate the findings from these specialists and monitor the physiological portion of the disease, at the very least.

How about that: There's something very important written on the side of your soda can.

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