High hopes for treating spinal condition

Claire and Lauren Gibbs, at nearly 6 and barely 7, are typical sisters, laughing and playing one minute, spatting with each other the next. Lauren likes to chase her little sister, sometimes gripping a small walker for balance while Claire spins away in her wheelchair in a giggling evasive move.

They are adventurers and not the least bit shy with strangers. When a toddler creeps over to Claire to show her a rock, the little girl exclaims and admires, turning it this way and that.

On the ski slopes, they are fearless.

A genetic disease has forced the pair to do things differently, but nothing can stop them from doing things.

They each have a condition called spinal muscular atrophy (SMA). It is little known but not that uncommon, affecting 1 in 6,000 births. Medicine has offered little hope. That may be about to change.

Dr. Kathryn Swoboda, a neurologist, geneticist and researcher at Primary Children's Medical Center, is conducting a yearlong clinical trial of two drugs that have already proven themselves with other illnesses. Children with SMA are born to parents who both lack the survivor motor neuron gene (SMN1). One in 40 people are carriers, so it's not that unusual. When both parents have the deletion, there's a one in four chance a child will have SMA.

It is the number of copies of the SMN2 gene that determine the severity of SMA. More copies are associated with better physical outcome.

Children with type 1 SMA, who have the fewest copies to help their motor neurons survive, don't sit up or walk. Most die by age 2, taken by a combination of fragility and complications, especially respiratory problems. Children with type 2 SMA, like Claire, sit up, but are too weak to ever walk. Type 3 SMA children like Lauren have a less-severe form of the disease. They walk but may over time lose that ability. Or they may show little effect. There are also a couple of very rare, adult-onset forms of SMA.

Every three months, Swoboda flies families with children who have SMA in to Salt Lake City for testing. And that's why Natalie and Tim Gibbs and their girls were hitting the slopes as guests of Park City Ski Resort Friday, with a little help from new friends at the National Ability Center and loaner skis from Breeze Ski Rentals. When the family flies in every quarter from Kansas, they try to make it a mini adventure, not just a trip to the hospital.

The girls always wanted to try skiing, and this is their third day on the slopes. Swoboda and her entire lab staff gathered their kids and came along, making Friday's outing a real ski party.