Couple wants to spread the word about little known genetic disorder

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.
“We were in shock because, like most people, we never thought that it could happen to us,” Stephanie said. “After I got off the phone, I couldn’t stop crying because I felt like all our dreams of having a family were shattered.”
According to Humes, one in every 40 people carry the spinal muscle atrophy gene. Each year 1 in 6,000 babies is born with the genetic defect, which is classified in four types.
If both parents are carriers, the likelihood of a child becoming affected by a terminal form of the disease is 25 percent. About 50 percent of children born to parents who have the gene will carry it without adverse health effects and the remaining 25 percent are unaffected.
Most babies born with SMA appear healthy until symptoms such as floppy limps and difficulty with feeding appear about six months to a year later. As the disease progresses, children need round-the-clock care, breathing treatments and a feeding machine.
Since the brain is unaffected, children also become self-aware and frustrated about their physical limitations.
Rather than dwell on the negative, Stephanie began doing research online to learn more about the disorder and determine what she and her husband could do to have a healthy child.
The Humes decided to try in vitro fertilization because it allows doctors to test embryos for SMA before impregnation.
“We have had no luck so far but will continue to fight for the family we’re both longing for,” Humes said.
Since there is no treatment or cure for SMA and it’s not a standard prenatal test, the Woodland Hills couple joined forces with the Gwendolyn Strong Foundation to help raise awareness and find a cure for the disorder.
The foundation was created by Bill and Victoria Strong of Santa Barbara, whose daughter Gwendolyn was diagnosed with a terminal form of spinal muscular atrophy Type 1 at 6 months old.
“As witnesses to the degenerative cruelty of the genetic defect, Bill and Victoria are passionately dedicated to leaving no stone unturned in raising awareness about and funding research for SMA and supporting families who are impacted by SMA and other life-altering diseases,” Stephanie said. Victoria Strong is a former teacher at A.E. Wright and A.C. Stelle middle schools, she said.
The Humes, who are both 26, recently hosted a fundraiser at Fresh Brothers Pizza to help support the Gwendolyn Strong Foundation.
“We just really want to spread the word and help people to realize that it can happen to anybody,” said Brandon, a wedding photographer who grew up in Agoura Hills.
According to Brandon, most couples don’t think twice before they get pregnant. “Even couples who know our story choose to get pregnant without pre-birth tests.” But things can change in the “blink of an eye,” he said.
Stephanie, who runs a baby blanket website called Lullaby Blankies, said she donates 25 percent of proceeds earned through her business to help advance the Strong foundation’s cause.
For more informa- tion about SMA, visit

Talk About It