Fam­ily un­der­scores im­por­tance of meta­bolic screen­ing

The Drumheller Mail - - NEWS - Pa­trick Ko­lafa

A lo­cal fam­ily is urg­ing new par­ents not to shy away from a sim­ple screen­ing test for new­borns.

John and Chanelle Shoff are the proud par­ents of three­year-old Sloan, and are ex­pect­ing their sec­ond child any day. They are grate­ful that when Sloan was born, they did a sim­ple heel prick test which gave them the in­for­ma­tion they needed to help their son live a healthy, nor­mal life.

The sim­ple meta­bolic screen test re­vealed that their son had Phenylke­tonuria (PKU). This is a meta­bolic con­di­tion where Sloan is not able to break down a par­tic­u­lar amino acid.

Be­cause they did the test, they were able to act right away.

“With PKU, when you start feed­ing them, it shows up in their blood be­cause they can’t break it down,” she said. The risk of PKU is el­e­vated lev­els of phenyl­ala­nine in the blood which can be toxic. “It’s just ba­si­cally poi­son­ing them,” she said.

Fur­ther, even though the child is feed­ing, and be­cause it is not able to break down the amino acid needed for growth, the body is be­ing starved of th­ese build­ing blocks.

“The baby doesn’t de­velop prop­erly, be­cause you don’t have the proper pro­teins to build the brain, the mus­cle and nerves. That is why they don’t meet their mile­stones.”

With PKU, Sloan is not able to eat many reg­u­lar foods that con­tain pro­tein, and he is on a strict diet. “We do blood­work on him ev­ery week and con­stantly mon­i­tor him,” she said. Aside from this, Sloan is a healthy young child.

Be­yond PKU, meta­bolic screen­ing tests for 17 treat­able con­di­tions in­clud­ing cys­tic fi­bro­sis. It is non-eva­sive and in­volves a sim­ple small poke to the heel done be­tween 2472 hours af­ter birth. The test is of­fered, but can be re­fused, so the lab must ask for con­sent. It is a sim­ple lab test that has been around since the 1960’s.

Chanelle is also a reg­is­tered nurse and feels it is im­por­tant peo­ple un­der­stand the im­por­tance of th­ese tests.

“There is sort of a trend in health care with peo­ple re­fus­ing im­mu­niza­tions, med­i­cal treat­ment and med­i­cal test­ing,” she said, in­clud­ing the test for meta­bolic screen­ing. “This stems from ba­si­cally ev­ery­one want­ing the best for their child, but th­ese de­ci­sions need to be done in an ed­u­cated and in­formed way.”

She said it is all about pre­ven­tion.

“Ev­ery­one wants their kids to be healthy, so pre­ven­tion is im­por­tant. It sig­nals a huge sav­ings to our health care sys­tem and less heartache,” she said.


Sloan Shoff was born with Phenylke­tonuria (PKU), a meta­bolic con­di­tion where he is not able to break down a par­tic­u­lar amino acid. Meta­bolic screen­ing, per­formed just af­ter he was born, al­lowed him to be treated and he is liv­ing a nor­mal, healthy life.

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