Lifewatch: M-Cad screening

Reported by Claire Hosmann - email
Posted by Debra Worley - email

(WECT) - Newborn screening tests check for as many as 54 metabolic and genetic disorders.

Many are treatable as long as doctors and parents know what to look for.

One in every 5,000 infants has a metabolic disease that can be detected by screening.  While the disorders are rare, they are often serious and life-threatening.

Daniel and Emily Voudren both come from large families, so it was only natural to add to their family of four.

Emily's third pregnancy was no different than her first two.

"I take the pregnancy pretty well, I don't have any abnormal things going on," said Emily.

When Noah was born he seemed alert, awake, and healthy.

"We pretty much went home and thought everything was fine we and got a call, I think it was the following Monday so a couple days afterward, that something had come back positive on his routine newborn screenings," said Emily.

An additional test confirmed Noah has M-Cad, a fatty acid oxidation disorder that doesn't allow the body to convert certain fats into energy.  It can lead to Hypoglycemia or low blood sugar.

"The main symptoms are lethargy, sleepiness or tiredness, they become clammy, they become more unresponsive and as that unresponsiveness progresses, then they go into a coma and the potential is there for death," said Patrick Killeen, a physician's assistant.

25% of children with M-Cad die from their first illness, and it's the leading cause of sudden infant death syndrome.

Noah was just one-month-old when he had his first attack.

"We thought very much so that he wasn't going to make it to the hospital," said Don, Noah's dad.

There is no treatment, which means extra vigilance - making sure Noah never misses a meal, even when he doesn't want to eat.

"How is this going to impact his future cause now we can take care of him, we can make sure that he's taken care of, as he gets older, gets to be a teenager or an adult, how is this going to impact him for his overall?" said Dan.

All expectant parents should request a supplemental newborn screening.

Let your doctor know you'd like to have an extra blood sample drawn at the time of your baby's routine screening.  Then, the sample can be tested for any of the metabolic diseases.

Institutes that specialize in the testing are now expanding their technology to be able to handle thousands of screening requests from hospitals nationwide.