Baby's Birth Reveals Deadly Condition in Mother

The woman has a rare genetic disorder that was only discovered after she gave birth

An Arlington woman's medical scare is helping unlock clues to a mysterious genetic condition.

Jessica Hitt, 31, has a rare genetic defect that's usually detected at birth, but the hidden defect nearly took her life when she least expected it.

At their Arlington home, 2-year-old Olivia brings endless smiles for her parents, Jessica and Marshall Hitt.

However, Olivia is also the key that unlocked a secret inside her mother's body.

"Everything was great until right after I had her," said Hitt.

Four days after she delivered Olivia, Hitt became delirious, began talking gibberish and even walked into walls.

She went back to the hospital, where doctors found toxic levels of ammonia in her blood, but they couldn't find a reason why levels were skyrocketing and poisoning her body.  

"I was feeling confused. I was very confused," Hitt said. "That's the only way I could put it. I just didn't understand what my husband and my mother-in-law were trying to tell me."

Her health deteriorated quickly.

Priests were called in to give last rites two separate times.

Doctors had one more call to make and it was a phone call to Dr. Markey McNutt, a clinical genetics specialist at UT Southwestern Medical Center in Dallas.

McNutt said Hitt's symptoms were of a rare disorder likely caused by a undiagnosed genetic defect in her urea cycle.

The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is removed from the blood and converted to a compound called urea in the blood. 

According to the National Urea Cycle Disorders Foundation, normally the urea is transferred into the urine and removed from the body.

People with urea cycle disorders aren't able to dispose of the nitrogen, which then accumulates to form ammonia.

Ammonia then reaches the brain through the blood, where it can cause irreversible brain damage, coma or death.

"It's really a problem with waste disposal," McNutt said. "We use proteins to build muscle and we break it down for energy. When we use it for energy, its byproduct is nitrogen, which builds up as ammonia, which can be toxic."

The disorder is usually detected when someone is young, but in Hitt's case Olivia's birth revealed the condition.

Doctors believe her body couldn't handle the excess protein as it worked to pump out the extra blood from pregnancy and return to its pre-pregnancy state.

"These were typically diseases that we thought just affected children, but as we learn more and we look more carefully, we find that they are affecting adults and the first time that we recognize someone can have these conditions in adulthood," McNutt said.

It took McNutt and his team six months to go comb through Hitt's DNA sequence to find the defective genes.

Hitt is now on a new medication to keep her body functioning like it should and the hope is that it keeps her healthy, as she soon welcomes another addition to the family.

She's pregnant with baby number two.

"I have a lot of peace and comfort with my doctor and medication I'm on.  I think everything will be OK. Sometimes I have anxiety, but I think about what I've been through and where we are at and it gets me through it," she said.

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