Finding cures for children's genetic diseases

Riley

Riley was a normal, naughty boy until age 6. Then something odd happened on the soccer field. The boys were in a big bunch and took off after the ball, but Riley just stood there with a funny look on his face. His mum didn’t think anything was wrong, because he soon recovered and took off after the others.
 
Then it happened at dinner and the rest of the family became aware of it too. Riley was just staring at nothing.
 
It took three months to see a paediatrician, with the seizures increasing. Riley was diagnosed with Absence Epilepsy and prescribed a combination of drugs. Nothing worked.
 
When he was 11 ½, Riley had his first big seizure—Generalised Epilepsy. An ambulance was called and he had a couple more seizures in the emergency department before it was brought under control.

He has had ten major seizures since then, some where he’s had to be hospitalized. 
 
In March 2012, he had four seizures in one day and was hospitalized. He had an EEG that showed 46 seizures in 4 hours, and that was just a normal day. 
 
Social life is affected, school is affected—the whole family is affected. Even Riley’s younger sister and brother know what to do to keep him safe when he’s seizing. Riley will sometimes have 20 seizures between bed and the bathroom in the morning. He’s not getting better. 
 
“We’re robust people. We must go on with our lives and do the best we can do. There are people out there worse off, and we’re grateful for what we have,” says Riley’s mum, Ruth.
 
Now Riley’s younger brother has been diagnosed with Benign Nocturnal Epilepsy. Fortunately, he’s only had three episodes. There may be a genetic component, but there’s not enough known about it that would allow them to predict whether Riley’s sister is at risk or not.
 
“If I could help others not go through this, I’d do it in a millisecond,” Ruth says.
 
Riley and his mum and dad visited Children’s Medical Research Institute abd were able to see Professor Phil Robinson’s laboratory and learn a little bit about the new treatments for epilepsy under development—treatments that may one day help the 4 out of 10 epileptics that don’t respond to current medication, kids like Riley.
 
“I’m glad to see this group of people focused on epilepsy,” Damien, Riley’s dad, says. “I’m glad someone is trying to find something better and not forgetting about us.”
 
One day we will beat childhood diseases. Until then, we need your support.
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