JARDINE: Modesto family reeling from baby’s death days before Christmas

MODESTO -- With Christmas just three days away, Mark and Amanda Smith had but one wish: To spend the holiday together as a family.

That meant flying back from Chicago, where they'd taken their 13-month-old son Mace to meet with specialists at the University of Chicago's Kovler Diabetes Center.

On their return trip, they made it as far as the Sacramento International Airport, where, as Mark hunted down their luggage, Mace's condition suddenly worsened.

"I went to check his blood sugar," Amanda said. "He didn't look right. He was paler. He had bubbles coming out of his mouth."

She pleaded for someone to call an ambulance. An employee from Southwest Airlines tried to administer CPR, and soon the baby was on his way to UC Davis Medical Center in Sacramento, where he was pronounced dead.

Instead of sharing Christmas with Mace, daughters Aubrey and Miranda and son Marky, the family began preparing for Mace's memorial service.

In just over a year, the Smiths had experienced so many emotions.

The joy of bringing a fourth child into their family.

The apprehension of learning Mace had been born with an extremely rare and severe subtype of diabetes. He was only the third child worldwide identified with the specific genetic mutation that prevented him from producing insulin and affected his brain functions.

The thrill of seeing Mace begin to develop motor and mental skills, only to watch him lose them as the disease progressed.

Facing the stark realization he probably would not live very long.

Finally, the helplessness and despair of losing him in a matter of minutes that seemed like an eternity that day, Dec. 22, in Sacramento.

And now that he's gone, they'd like to prevent other children from enduring the same fate. It's only natural to want to help others by raising awareness and-or money for the cause. It's therapeutic. It helps families cope with their loss.

But Mace's case provides a quandary: His disease — his specific mutation — was so rare that it's not something the medical profession would campaign to prevent. It's not epidemic. It's not on the research radar. In fact, researchers knew of only two other reported cases: One in Japan and the other in Brazil. They suspect other cases went undetected and thus unreported before detection technology was developed.

"With this disorder, it's difficult to explain what they have let alone what to do about it," said Dr. Siri Greeley, Mace's physician in Chicago. "Neonatal diabetes is very rare — about one in 100,000 births. It's a fraction of a percent of all diabetes."

Ailment rare among rarities

Among those with neonatal diabetes, about 35 percent will have a mutation in the gene KCNJ11, and there are about 30 known mutations known, Greeley said. The one Mace and the two others had — called C116Y — ranks among the rarest of them all, he said.

Soon after he was born Nov. 19, 2011, doctors in Modesto encountered difficulties stabilizing his blood-sugar level.

"And insulin drip wasn't doing the trick," said dad Mark, a resource teacher at Fairview and Beard elementary schools.

So they sent the family to Stanford University's Lucille Packard Children's Hospital, where they discovered his genetic mutation. The baby's stomach discomfort became such that he burned more energy crying and fussing than he took in from feedings, Mark Smith said.

"(Amanda) worked really hard with him all of the time," he said.

Feedings that would have taken 15 minutes now required hours. The medication prescribed didn't work.

Eventually Mace began having seizures and spasms that further complicated his treatments, Greeley said. Steroid therapy helped, but only for a while.

"Slowly, the symptoms started coming back," mom Amanda said. They'd increase the dosage and see an improvement, then the decline in what became a pattern.

The Smiths essentially split the duties between hospitalizations here, at Stanford and in Chicago.

Amanda tended to Mace. Mark tried to make sure their other three children — ages 6, 3 and 2 — weren't neglected. Amanda's mother helped out with the other kids when Mark joined Amanda and Mace.

"It was like we were a separated family," Amanda said.

"We were apart all the time," Mark said.

Their trip to Chicago in December began with a problem. During takeoff from Sacramento, Mace's gastric feeding tube came out. When they arrived in Chicago, they went straight to the hospital rather than first checking into their room.

Greeley said Mace's condition had deteriorated since his previous visit, and the long-term prognosis wasn't promising.

When the Smiths told him they wanted to bring Mace home in time for Christmas with the rest of the family, Greeley agreed.

"Sooner or later …," Greeley said, his voice tailing off. "When and where (Mace died, at the airport) was not ideal. But I guess you could say it's how God wanted it to happen. We all agreed that we were glad it didn't happen here (Chicago). That would have really complicated things. They almost made it home."

Left with mixed emotions

Mace's parents donated two of his heart valves to help other babies. Then they returned to Modesto, to their other young children, with understandably mixed emotions. They held a service for Mace on Dec. 29 in Turlock.

"I've said so many times that if we'd have gone home to an empty house I don't know what I'd do," Mark said. "They have their needs, too."

While the children understand Mace is gone, they're probably still too young to understand the permanence of it all or the impact on their parents.

"I've had a hard time," Amanda said. "I love my other kids, but it makes it so that I don't have time to grieve (losing Mace) as I want to."

Mark's regret? "I didn't get to spend much time with him."

Just over two weeks since their son died, Mark remembers his tiny son as a fighter.

"He taught me so much," Mark said. "He was so tough. Now, I try not to let the little things bother me. I take the time to hug the people I love."

Mark returns to work Monday. Amanda will stay home with the kids.

"Finding happiness in what you have," she said.

A family, together again at home, missing the one in their hearts.

For more information about neonatal diabetes, visit http://monogenicdiabetes. uchicago.edu and click on "What is Monogenic Diabetes" and then "Neonatal Diabetes."

Friends and family established the Mace Maxwell Smith fund at Bank of the West to help the family defray costs incurred in travel and lodging during his hospitalizations.

Jeff Jardine's column appears Sundays, Tuesdays and Thursdays in Local News. He can be reached at jjardine@modbee.com, @jeffjardine57 on Twitter or at (209) 578-2383.