Urea Cycle Disorder (UCD)

Not long ago, Jeff Strohm was on the fast track to being a college basketball head coach. He was an assistant coach at Western Kentucky and had resume-building stints with Marquette, Utah, and Northern Illinois.

But about 20 months ago, that all changed. The Strohms had newborn twins, and six days later their hospital telephoned with results from a blood test. ‘They said we had to go to the hospital right now,’ said Jeff’s wife, 39-year-old Jade Strohm, in a telephone interview. ‘That was the beginning of a traumatic week.’

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Doctors discovered that one twin, Jordin, had urea cycle disorder (UCD), which a National Institutes of Health website says ‘results from defects in the metabolism of the extra nitrogen produced by the breakdown of protein and other nitrogen-containing molecules.’ In short, this genetic disorder causes ammonia accumulation in the blood stream that can lead to coma and death.

‘We had our twins in Kentucky, which has a newborn screening program (for UCD),’ said Strohm. ‘The National Urea Cycle Disorders Foundation has worked hard trying to get screening in every state. Fortunately, we had moved to a state with it, rather than a place where she could have been undiagnosed, gone into a coma, and been brain (damaged). Researchers are starting to learn that some cases of sudden infant death syndrome are caused by urea cycle disorder.’

Soon after, doctors discovered that Jordin’s much older sister Sydney had a weaker form of UCD and been undiagnosed and untreated for five years. She’d had occasional seizures, and dry, brittle, and short hair. What likely saved her life was a natural dislike for eating high-protein foods, such as meat and cheese.

Now 20 months old, Jordin drinks a special formula, and she and 7-year-old Sydney must take a daily enzyme supplement twice daily. Because of the disorder having been untreated so long, Sydney has some fine motor skill delays and balance problems, and has regular physical therapy.

‘Sydney and Jordin can never eat a hamburger,’ said Strohm. ‘One hamburger has more protein than they need in an entire day. I spend a majority of my day thinking through, planning, and preparing their meals.’ To help out Jade with their new lifestyle, Jeff left a promising college coaching career.

Jade strongly urged mothers of newborns with urea cycle disorder to contact the National Urea Cycle Disorders Foundation.