Finding happiness despite disease

You bring a beautiful baby into the world and your heart is filled with hopes and dreams for her. You delight in each new little thing, the first smile, the first steps. The day she says "mama" for the first time melts your heart. You know your child is on the path to adulthood and you are there to help her on her journey.

Sometimes, the path takes an unexpected turn.

"I knew something was wrong when Alissa was three," Carolyn Austin said. "It seemed something was wrong with her eyesight and I thought she might need glasses. Then she asked for help when she was eating. I noticed that she was holding her spoon upside down."

Diagnosis proved to be difficult. Doctors were unsure and finally began treating Alissa Barron for encephalitis. As the little girl's condition worsened, her mother started researching the disease. When Alissa began having seizures, Carolyn grew even more concerned. Seizures were not a symptom of encephalitis.

"It was then that I was told that Alissa's father and I should be tested as soon as possible for genetic disorders," she said. "That's when we learned that we were both carriers of a very rare genetic disease called Krabbe. After learning Krabbe is a terminal disease, we immediately had our baby son tested. Although he hadn't any symptoms, he too was diagnosed with Krabbe."

Krabbe is so rare that one in 100,000 have a chance of getting the disease of the central nervous system. Because of a missing enzyme, the protective coating around the nerve cells in the brain are destroyed. The disease can manifest at different times during a child's life. Once symptoms are present the chances of stopping the disease or slowing down the decrease in brain activity are slim.

Carolyn learned doctors at Duke University were studying the disease and doing trials using stem cells to help build the brain's enzymes. She called the doctor in charge of the study who asked that they immediately bring Elijah to Duke. Carolyn knew it was the only hope for her son, Elijah Barron.

Carolyn had the daunting task of trying to be in two places at once. She wanted to be with her daughter and she needed to be with her son. The young, single mom turned to her own mother, Carol Austin, for the emotional support she needed. It wasn't easy for the grandmother since she was also trying to help her own sister who was dying of cancer.

Together they made the trip to Duke, and then Carol stayed while her daughter went home to be with Alissa. Because Alissa required 24 hour care, she was staying at an extended care facility in Elgin.

Elijah responded well to the treatment and the Austins faced a new problem. They had been living with extended family in North Aurora. The doctors said it was imperative for Elijah to have an environment that was as germ free as possible. He needed his own room away from others to prevent any infection.

Through an appeal through the newspaper, the family found a home to rent in Batavia.

"Our landlord has been so good to us," said Carol Austin.

The home was just blocks away from an elementary school and today Elijah is a thriving second-grader who enjoys doing puzzles and playing Nintendo. He likes Scooby Doo and Batman.

"He's my miracle boy," said Carolyn Austin.

Even though the family is having a tough time making ends meet, today they feel blessed for all Elijah has been given. They feel Alissa is happy living in the extended care facility, and they know there are some parents who have had to deal with the loss of their child.

Carolyn and her mom have become involved with a Krabbe disease support group to learn about new advances in combating the disease. They also have worked to lobby the state to do screening for the disorder at birth.

"Illinois is the second state to offer screening," said Carolyn. "More children can be helped if they know about the disease early on."

Elijah still needs to return to Duke for periodic checkups, but the family is hopeful that he will continue on a healthy path.

"I want my son to have a chance at life, a chance at a healthy childhood," added Carolyn, "a chance that his sister never had."