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Posted at 09:33 AM ET, 04/04/2012

Spinal Muscular Atrophy, mistaken for child abuse


Dinakar Singh, chief executive officer of TPG-Axon Capital Management, discusses his daughter Arya's genetic disease and how it led him to establish and fund the Spinal Muscular Atrophy Foundation.
You've probably never heard of Spinal Muscular Atrophy.

And if you have, it probably broke your heart.

A recent Denver Post story reminded me of the heartbreak all over again.

It also illustrated the need for more knowledge about SMA, a disorder that is the No. 1 genetic killer of children under age 2. The disease destroys the nerves that control voluntary muscle movement, including breathing and swallowing.

One in 40 people carries the gene that causes the disease; if both parents have the gene, chances are 1 in 4 that a child will develop SMA. 

But as illustrated in the Post story, Tiffany and Dave O'Shell, didn't know about SMA. Neither did their baby girl's doctors initially. And neither did the social workers who took their 3-month old daughter away from the couple (both police officers), citing broken bones in the baby's legs.

There were no other signs of abuse, not even bruises on her legs.

Fearing he was about to be arrested for child abuse, Dave O'Shell shot and killed his wife, then himself on June 30, 2008. Their baby, Alyssa, was diagnosed with SMA a week after her parents died.

Still, social service officials recommended the child be kept in foster care. Her maternal grandparents had to get a judge to release their daughter to them. She died in their arms in late October 2008. A lawsuit against the social services agency and a hospital involved was unsuccessful.

The grandparents, Paul and Jackie Cuin, told their story to the Denver Post to get the word out about SMA.

It's a genetic disorder I'd never heard of until a year and a half ago, when my friends Paula and Chris suspected problems when their sweet baby Wyatt seemed to have trouble breathing shortly after his July birth.

As the weeks went on, he didn't lift his head or move around like other babies his age - though he was quite alert and often smiling as his eyes followed his parents. In mid-October, they learned Wyatt had SMA.

On Dec. 12, 2010, Wyatt "became an angel," as his parents wrote. A week before Christmas Eve, he was laid to rest. In the words of Father William D. L’Heuruex, who presided over the funeral Mass, "This sucks."

These two families aren't alone in their suffering. About 1 in 6,000 babies are born with the disorder.

There is no cure for infants diagnosed with SMA. Children who don't exhibit SMA in infancy live longer, though they lose motor ability and develop trouble walking.

Like the Cuins, Paula and Chris also want to spread the word about SMA. They share their love with other families and raise money for Families of SMA. They emphasize that blood tests can reveal whether you're a carrier of SMA.

They hope that more potential parents, physicians and, yes, social workers, will be aware of the symptoms of SMA.

But perhaps the best advice from Chris and Paula was on the holiday card they sent shortly before Wyatt's death: "Cherish every day you have, knowing some gifts are fleeting."

 

Sandra Fish teaches journalism at the University of Colorado and has reported on politics in Iowa, Florida and Colorado. Follow her on Twitter at @fishnette

By  |  09:33 AM ET, 04/04/2012

Tags:  SMA, spinal muscular atrophy, genetic disorder

 
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