As the parents of a child with spinal muscular atrophy, Lincoln Elementary School teacher Michael Casten and his wife, Lindsay, work tirelessly to not only help their own daughter get through each day, but also to help educate others about the disease. Because, as Michael has quoted another father of a child with SMA, "Awareness is the fuel that powers progress."
August is SMA Awareness Month, and there's no better time to get the word out about this progressive, neuromuscular disease that strikes primarily children, Michael said.
"Currently, there are no viable treatment options or cure for the disease," he said. "The SMA community, however, remains hopeful—and even excited—as research marches on."
The Castens' daughter Ella just celebrated her second birthday in June. About a year ago, her parents were devastated when she was diagnosed with SMA.
"We just kind of looked at each other and said, 'What do we do now?' We knew what it meant," Michael said in an
SMA causes motor neurons in the spinal cord to die, leaving muscles weakened which leads to atrophy. Primarily affecting the trunk and limbs, SMA works its way to muscles involved with swallowing, talking and ultimately breathing.
Ella, one of the Castens' three children, has lost much of her muscle function. It started in her legs, and now has affected her arms and upper body. She is confined to a wheelchair and requires help breathing at night. SMA does not affect cognitive development, however; Ella is right on target when it comes to intelligence, interaction with others, language, sense of humor and so on. But that also means she is becoming more aware of her condition, Michael says. They worry about her becoming fearful or depressed, he says in a recent blog post.
There is hope, and that starts with awareness, Michael said. Following are some statistics about the disease as provided by Michael:
- SMA affects 1 in 6,000 live births
- 1 in 40 people are carriers of the recessive gene responsible for the disease.
- If two carriers have children, each child has a 25 percent chance of having SMA, a 50 percent chance of being a carrier and a 25 percent chance of being unaffected.
- SMA is considered the No. 1 genetic killer of young children, however ...
- The National Institute of Health has named SMA the No. 1 neurological disease (of more than 600) that is closest to a cure.
There are four types of SMA. Types 1 and 2 are considered the more severe. Ella has Type 2.
Type 1 children are usually diagnosed between birth and 6 months of age. They never crawl, roll or walk, need extensive feeding and breathing support and often do not live past their second birthday, although many have beaten those odds, Michael said.
Type 2 children are diagnosed between 6 and 18 months and usually can support themselves in the sitting position, but they never walk. Life expectancy ranges from early childhood to early adulthood.
Types 3 and 4 present symptoms in later childhood and adulthood, respectively, and are much more rare than the previous types. Life expectancy can be normal.
The Castens and other parents of children with SMA hope people take some time in August to learn about the disease.
To learn more:
- Visit Ella's Corner website
- Watch the short video by ELLAwareness attached to this story.
- Take an SMA quiz at ELLAwareness for SMA.
The Castens want people to know that researchers are close to finding treatment options and a cure for SMA, which will help pave the way for advancements for other neurological diseases. To make a donation, visit FightSMA. Or, buy a Mama Bracelet, necklace or key ring designed by Lindsay, and 30 percent of all sales will go toward finding a cure.
