Couple wants to spread the word about little known genetic disorder

Couple wants to spread the word about little known genetic disorder

The Acorn | June 9, 2011 | By Sylvie Belmond

A young local couple who wanted to start a family saw their dreams dashed when they learned they both carry a little-known genetic defect that kills more children than any other inherited disease.

A month after their storybook wedding in Santa Barbara in May 2010, Stephanie and Brandon Humes decided to start a family.

“ We both just really love children,” said Stephanie Humes, who grew up in Calabasas. “Even on our first date we talked about children. It was important to us to have a family young so we could travel with our kids and do fun things,” she said.

To ensure that their baby would be healthy, the couple visited an obstetrician who offered a long list of genetic tests, including one for spinal muscle atrophy (SMA).

Most children who have Type 1 spinal muscle atrophy die before age 3 due to muscle weakness and atrophy.

Although Stephanie and Brandon had never heard of SMA, she said she opted to get the test because it was one of the top three suggestions on her doctor’s list.

When results showed that she’s a carrier of the defective gene, the doctor suggested that Brandon also be tested.

His test also came back positive.

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