FACING ADVERSITY WITH GRACIE: Little girl's big battle

Suffering from hard-to-diagnose condition, little girl fights like a champ

steve andrascik/VIEWGracie Claire Sauer, 21/2 years old, attempts to walk July 8 with the aid of a apparatus called a "horse" as her physical therapist, Jason Derryberry, holds her. Gracie is unable to walk or use her hands much. Doctors have been unable to conclusively diagnose her condition. steve andrascik/VIEWGracie Claire Sauer attempts to walk with help from her physical therapist, Jason Derryberry. The 21/2-year-old Boulder City girl has been making slow but steady progress in developing strength and dexterity since she started four-times-a-week physical therapy sessions, according to her father, Scott Sauer. Advertisement

On Gracie Sauer's first birthday, a leading medical geneticist at UCLA's School of Medicine said he believed the Boulder City girl suffered from some type of mysterious metabolic disorder and warned her parents that Gracie's condition would probably deteriorate rapidly, leading to her death at an early age.

Medicine is an inexact science, however, and every so often, a child like Gracie comes along to remind us of that fact.

Now 21/2 years of age and showing steady day-to-day improvement although her road to recovery remains long and fraught with uncertainty, Gracie inexplicably reversed her slide 18 months ago and began to slowly improve. Gracie's family describes it as something of a medical miracle and now looks to the future with guarded optimism.

To this day, doctors are not quite sure what Gracie suffers from. Some doctors say it's a metabolic disorder, while others believe it to be a unique form of leukodystrophy, which the National Institute of Neurological Disorders and Stroke defines as a "progressive deterioration of the white matter of the brain due to imperfect growth or development of the myelin sheath ..." A Dutch doctor who is one of the world's leading specialists in leukodystrophy has seen Gracie's file and, according to her family, "he couldn't pinpoint anything."

Gracie's condition started becoming noticeable in October 2006 when, at the age of 9 months, she had intermittent fevers and slept for long periods of time, almost 20 hours once.

"I tried to wake her up to feed her dinner, but she couldn't hold her head up," said her mother, Jennifer Sauer, who used to do massage therapy until Gracie needed constant attention. "I tried to sit her up and she wouldn't sit up, so I knew something was wrong."

After that, it was a series of visits to emergency rooms where doctors found themselves confounded as they attempted to diagnose Gracie's condition.

"When Gracie hit bottom it was Dec. 15, 2006, she couldn't do anything," her father, Scott Sauer, said. "She went from being a smiling, happy baby who didn't cry to a frustrating baby who couldn't do anything. That's when we drove to UCLA and saw an emergency room doctor, a pediatric neurologist and a pediatrician. We begged and pleaded to admit her and they did that night. She was there for three days. They drew so much blood it was ridiculous."

It was then that the best guess of what was happening to Gracie was that she had a metabolic disorder.

"They said it would regress so quickly, and would continue to regress, that we'd better prepare for the worst, including a feeding tube," Scott Sauer said. "We brought her home and prepared ourselves for the worst."

But after a few days at home, Gracie perked up noticeably. She ate and drank better and her nonstop crying abated somewhat.

All of this occurred over Gracie's first Christmas, which was anything but festive for the Sauers.

"It was sad," Scott Sauer said. "We kind of skipped the first Christmas. But our present this last Christmas was when she bent her knees and took a step."

In January 2007, around Gracie's first birthday, the Sauers made a return visit to UCLA to see Dr. Julian Martinez-Agosto, an assistant professor of human genetics, who was impressed with Gracie's improvements, but took a skin biopsy for further testing.

"The weeks passed and UCLA took over three months to complete the test," Jennifer Sauer wrote on Gracie's Web site. "We made the trip back to UCLA ... and had another consultation with Dr. Martinez. The biopsy results were normal, much to his surprise, and we were so glad to have that hurdle behind us. We decided to discontinue further testing ... since (it) would (have been) very difficult on Gracie and (could have) even put her in danger of regressing again."

At the same time, Martinez-Agosto, a recent recipient of the Pediatric Department's Outstanding Research Award, delivered a grim prognosis to Gracie's parents. Despite the fact that Gracie had shown signs of improvement in late December 2006 and early 2007, Martinez-Agosto was still far from optimistic a few months later.

"He said he was more than 50 percent sure that he had the correct diagnosis (of metabolic disorder) and, if so, Gracie would never walk, talk or live to see the age of 4," her father said.

But being the fighter she is, Gracie thus far has proven the doctor overly pessimistic. Since returning home from Los Angeles in the spring of 2007, Gracie has, as her father put it, "improved steadily, but very slowly."

A large part of that progress can be attributed to the physical, occupational and speech therapy Gracie has received.

She gets physical therapy four times a week from therapist Jason Derryberry, whose firm provides his in-home services with the cost picked up by the Easter Seals organization.

"The biggest difference I would say I've seen is her ability to control her trunk," said the 33-year-old therapist with a master of science degree in physical therapy from UNLV who's been working with Gracie since April of this year. "Her left leg used to drag and cross over, but she's clearing it more. She's drastically changed that."

The Sauers said they haven't undergone genetic testing to see if Gracie's condition is hereditary, and they're still debating whether to have more children since the UCLA geneticist told them what happened to Gracie could happen again.

Not only is all of this taking an emotional and physical toll on the Sauers, but it also has taken a financial toll that they estimate at more than $100,000.

"The wheelchair cost $3,500, the walker $3,000, $350 for the car seat, $1,200 for braces," said Jennifer Sauer without even attempting to tally up the cost of the hospitals and numerous doctors, specialists, therapists and others who have seen and worked with Gracie. "It's like everything you need for a special needs child is $300 to $400. It's crazy. It never ends."

Scott Sauer, 42, came to Southern Nevada with a bachelor of science degree in computer science and worked as a craps dealer at Harrah's for 10 years before starting his own business, Advanced Structural Inspections, shortly before Gracie's birth on Jan. 9, 2006.

Even with his work and Jennifer's massage therapy jobs, it wasn't long before the medical bills piled up, exceeding their incomes and savings.

"We got insurance for Gracie, but we came to find out there was a $4,000 lifetime cap on her expenses," Scott Sauer said. "That's what's devastating about this. A $4,000 lifetime cap. If it wasn't for Easter Seals, I don't know what we'd do."

The next step on Gracie's road to recovery will take her to the Neurological and Physical Abilitation Institute in El Segundo, Calif., in late August.

There she will undergo three weeks of intense physical therapy, including strengthening and conditioning sessions that last four hours per day, five days a week. The institute claims "many children gain more progress toward their goals in three weeks of intensive therapy than they do in a whole 12 months of ongoing traditional therapy."

The base cost for the three weeks at the El Segundo institute is $7,900, with extra services and treatments adding to the bill. Transportation, lodging, food and other travel expenses add to the cost, as well.

All of this, of course, takes money, more than the Sauers can hope to provide themselves.

A silent auction is in the works for possibly the first week in August at the Boulder Dam Credit Union where the Gracie Sauer Fund already exists. In addition, donations can be made to the NAPA Institute or to Gracie's Web site, www.graciesauer.com. Also, the Sauers' phone number is 610-5111.

Given the progress they've seen so far, the Sauers are hoping that doctors were flat wrong when they said in 2007 it was unlikely she'd make it to the point of enrolling in kindergarten. Her parents now wishfully look ahead to Gracie's teenage years with cautious optimism.

"I hope (the institute) pushes her to her extremes," Scott Sauer said. "She's pretty strong, so I hope they do that. The hope is that we're moving forward constantly, and that by the time she's 12 or 13, it won't be as noticeable. That's the hope. That's our best case scenario."