Gracie

Story from The Lake City Reporter 4-11-2008

Saving Gracie

9-month-old girl and her family battle rare genetic disease.
By TONY BRITT
tbritt@lakecityreporter.com
Published: Friday, April 11, 2008 6:07 AM EDT
Gracie looks like any other 9-month-old baby girl.

The chubby-cheek infant loves to play with her toy fish bowl and mouth her colorful teething ring, and she enjoys spending time in her exercise-saucer toy. But Gracie is a fighter, and is caught in the fight of her life against her own body.

Kelly Grace “Gracie” White is the daughter of Jim and Sarah White, of Lake City, and for the next six months, Gracie’s fight will be waged in Minnesota at a children’s hospital.

With the rare disease, instead of just having the toys of a 9-month-old child, Gracie has a geneticist, cardiologist, ophthalmologist and several other doctors.

Gracie has Hurler’s Syndrome, a metabolic storage disorder. As a result of the rare disease, she is missing an enzyme in her blood to help her process and remove her body’s metabolic waste.

“Those wastes build up pretty much everywhere in her body and cause the cells to destroy themselves,” SarahWhite said. “It’s degenerative and fatal.”

Hurler’s Syndrome is a rare genetic disease. Only one in 100,000 children is affected with the disease. It is a form of mucopolysaccharidoses (MPS), and related diseases are genetic lysosmal storage diseases caused by the body’s inability to produce specific enzymes.

Normally, the body uses enzymes to break down and recycle materials in cells. In people with MPS and those with related diseases, the missing or insufficient enzyme prevents the proper recycling process, resulting in the storage of materials in virtually every cell of the body.

Gracie was diagnosed with the disease following a routine visit and examination by her pediatrician. Jim and Sarah say the early detection of the disease was important because the life expectancy rate for untreated Hurler Syndrome patients is usually 10 years old — most don’t live past the age of 5.

Doctors began testing Gracie for the disease Jan. 29, and two months later, the Hurler’s Syndrome diagnosis was confirmed. Gracie was six months old when the diagnosis was made.

“It was a very big deal that she was diagnosed this early,” Sarah White said.

Jim White is a Columbia County paramedic and Sarah White is a Realtor with Stan Batten Real Estate. Gracie is their first child, and the young couple is determined to do whatever it takes for their child to be the victor in the battle against the rare disease.

“We feel we have no choice,” Sarah White said of the upcoming transplant and medical treatments. “This is what we have to do.”

Gracie will be going to the University of Minnesota for 10-12 weeks of enzyme replacement therapy where doctors infuse synthetic enzymes into her body through a central line she has placed in her chest.

The infusion process will take about four or five hours and will be done once a week. Gracie’s infusions have been taking place at Shands at the University of Florida in Gainesville.

Gracie is part of a clinical trial run by the University of Minnesota, where less than 15 patients are included in the program.

“There’s not a whole lot of treatment out there for this disease because its so rare,” Sarah White said. “This is the only treatment available.”

In Minnesota, Gracie have chemotherapy which will be followed by a 15-minute stem cell transplant. Gracie’s preliminary transplant date is May 5.

Following the procedure, she will be confined to a negative pressure room, which utilizes a HEPA (high efficiency particulate air) filtration system which changes the air every four minutes. Gracie could be confined to the room for 45 days after the treatment, depending on how she recovers.

The family will be staying at the Ronald McDonald House in Minneapolis when they are not at the hospital with Gracie.

The Whites say there are only two clinics in the country capable of providing treatment for the disease, the University of Minnesota and Duke University. The procedure was pioneered at the University of Minnesota.

“We’re coping one day at a time,” Sarah White said. “You have to keep going. Regardless of how the news devastates you. You have to fight.”