SUGAR HILL -- Jackson Jinright sits in his father's lap and laughs.
With the wonderment and inquisitiveness only a 2-year-old can possess, he punches the numbers on a BlackBerry phone.
"It's one of his favorite toys," father Travis explains, adding that he prefers "high-tech toys," such as mobile phones and laptop computers. Jackson chuckles as he makes the phone light up by pressing the keypad.
Despite a buoyant demeanor, Jackson faces daily challenges. Shortly after birth, he was diagnosed with a Peroxisomal Disorder, a rare congenital affliction caused by the absence of cell components. Developmental delay and impairment of vision and hearing are common to PD patients.
Jackson was born March 3, 2007. And while everyone described him as a happy baby, the Jinrights were concerned with his progress.
"Between his second and third months, there was no weight gain," Angie said. And Jackson wasn't as active or mobile as they thought he should be.
Because the disease is so rare (estimates of birth frequencies run as high as one in 150,000), the diagnosis came slowly.
In June, at three months old, Jackson underwent two weeks of testing at Children's Healthcare of Atlanta at Scottish Rite. It wasn't until August that the Jinrights received the diagnosis.
Immediately the family began researching the disease. Their findings were not encouraging. There is no cure, although Johns Hopkins University is researching the disease. More disappointing were the few options for significant treatment.
Despite the difficult news, the family caught a break.
In his online research, Travis came across Dr. Manuela Martinez, a pediatrician and biochemist who's been working in the field of brain development since 1972.
Coincidentally, at about the same time, Angie's parents, Bill and Sherry Russell of Duluth, were traveling in Europe. They took a side trip to visit the doctor at her clinic in Spain.
The Russells were impressed. The immediate message to their daughter was Jackson needed to see Dr. Martinez as quickly as possible.
Fifteen days later, despite the tasks of making travel arrangements, shuffling schedules at work and obtaining a passport for Jackson, the family was at Dr. Martinez' clinic in Barcelona.
The transformation was miraculous.
"Before we left he was skin and bones. He couldn't hold his head up. We were worried he wasn't going to make it," Angie said. "Within three weeks (of treatment) he was sitting up and gained weight" and was much more active. The treatment in Spain lasted six weeks.
Since then, the Jinrights have returned to Barcelona at least two times a year. In May, they will make their sixth trip.
The treatments consist of a fatty-acid DHA dietary supplement to aid development combined with intense therapy. It's worked wonders, but won't bring an end to Jackson's difficult journey.
"Dr. Martinez told us this is not a cure, but it will give him a better quality of life until one is found," Angie said.
Indeed, they have seen regression. Jackson has been fitted with a cochlear implant to improve hearing. He has glasses, but his sight continues to deteriorate. Much of his nourishment now comes via a stomach tube.
Still, Jackson stays cheerful and the Sugar Hill family remains hopeful.
Jackson has a grueling schedule of therapies -- occupational, physical, speech, etc. It's not unusual for him to have six or seven sessions during the workweek.
"He has a busier appointment schedule than I do," Travis joked.
Between appointments, Jackson enjoys playing with family members and doing the things all two year olds do.
"He loves his music. He loves to sing and to be sung to. He likes getting around in his walker and loves to swing," Angie said.
"His favorite word is 'Mama,'" Travis said with no hint of jealousy.
With help from family, the Jinrights are taking things one day at a time and enjoying every minute spent with Jackson.
And if you can surmise anything from all of his smiles and laughs and hugs, Jackson's enjoying every minute, too.