Surviving with rare diseases

Milton family redefines ‘normal’

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MILTON, Ga. – Having a sick child can be difficult for a parent. But there is always the expectation they will get better. For Giovanna and Hansel Johnson of Milton, their son Andre will never get better.

He has a rare disease that has no cure.

Andre, 9, and two classmates were front and center Feb. 28 at Crabapple Crossing Elementary School as part of Rare Disease Day.

The Johnsons first knew something was wrong with Andre when he was 2 months old. He was suffering from heart failure and his muscles were wasting away.

Andre suffers from “VLCAD Deficiency” or Very Long Chain Acyl Coa Dehydrogenase Deficiency. This disorder causes Andre’s body to turn against fats in its system, including his organs, causing his body to eat itself.

“He is not able to metabolize fats,” said Hansel. “If his body starts burning fats, instead of creating energy, it will be toxic.”

There is no cure. The only treatment is a very low-fat diet. Otherwise ammonia builds up in his systems and begins breaking down his vital organs.

This leaves Andre in a precarious state. Any illness can trigger a “metabolic crisis.”

“If he gets a stomach bug, he has to go into hospital,” Hansel said.

Too much exercise can also lead to problems, which is an issue for a growing boy, but the family copes.

“If you see him, you would never know,” said Giovanna, his mother. “But it is a struggle. He still ends up in the hospital sometimes.”

Andre is one of the few children to not only survive but live with the disease.

As part of Rare Disease Day, the school invited Sen. John Albers, Milton Mayor Joe Lockwood and Fulton Superintendent Dr. Robert Avossa to share the day with the class.

Rare diseases typically affect just a few thousand people and rarely have cures. Often they are genetic. The symbol for supporters of Rare Disease Day is a ribbon made out of jean material – jeans for genes.

This year marked the first year Gov. Nathan Deal signed a proclamation recognizing the day in the state.

Albers, who championed the newly passed “Ava’s Law,” requiring insurance agencies to cover autism, said he was proud Georgia was taking a stand for rare diseases.

“You are my heroes,” Albers told Andre and his classmates. “As long as we are doing things for kids, we are doing the right thing.”

Andre and his class joined Albers, Lockwood and Avossa in cutting out hands with their fingers outstretched, the symbol of Rare Disease Day.

“We live as close to a normal life as can be expected,” said Giovanna. “We have had to redefine normal.”

For more information about Rare Diseases visit the Rare Disease Day website at http://www.rarediseaseday.org.

MH 03-12-14