SMARD - spinal muscular atrophy with respiratory distress
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Silas Werner baffled a small army of Pittsburgh pediatric specialists before he was diagnosed with SMARD (spinal muscular atrophy with respiratory distress) three months after his birth. His parents, Lisa and John, were devastated.
The horrifying news of Silas’ diagnosis came after the death of their first child, Valentia, who died one year earlier at age six weeks. The medical examiner listed the cause as sudden infant death syndrome, despite the absence of risk factors. When Silas was later diagnosed with SMARD, his sister’s death was further investigated and it was confirmed that Valentia—the Latin term for “strong and brave” also had SMARD.
After being assured that SIDS never happens twice within the same family, Lisa took on the challenges of another pregnancy. Silas was born just after Christmas in 2009, at a low birth weight just like his sister, only four pounds eleven ounces. Lisa says she intuitively knew then that she and John faced enduring another “nightmare.”
“Our daughter died in our house, and I lived in constant fear that I would walk into his room and Silas would be dead, too.” Lisa and John, never convinced that Valentia died of SIDS, enrolled Silas in a voluntary sleep study. This miraculous decision saved his life, as he was intubated and rescued when his breathing stopped during the study.
Early into five months of tests, doctors had ruled out SMARD. They eventually diagnosed botulism, assuring the couple that, with the right medications, he would make a complete recovery. He didn’t. Eventually, testing showed SMARD should not have been ruled out.
“We liked the named Silas because in Latin it means from the forest, and we felt like expecting him was the only thing that could pull us out of the forest of grief after losing our daughter,” says Lisa. “Meanwhile, he was the messenger who led us out of the forest of the unknown.”
Living against all odds, Silas, now almost two years old, requires round-the-clock care supplied by visiting nurses and his parents who mastered “special needs boot camp.” Despite his condition, Silas radiates joy from his smile and happy facial gestures. John, Lisa and his nurses describe Silas as “having the sweetest disposition of any baby we’ve ever met.” Speaking haltingly through a ventilator, he’s now mastered “mama” and “papa,” much to the delight of Lisa and John.
Despite not being able to breathe on his own and not being able to use his arms and legs because of muscle weakness, Silas is like any other child. He loves music and especially the show Glee. He smiles and likes to watch the wind blow through the trees. And he loves to snuggle in bed with his parents. “Silas makes life rich,” they say.
Supporting SMARD research at The Jackson Laboratory
Lisa and John are part of the close network of SMARD parents who now have newfound hope for the future. They recently learned that The Jackson Laboratory is making strides in SMARD research. Associate Professor Greg Cox, Ph.D., with his research team, is one of the few genetic scientists in the world committed to better understanding this rare motor neuron degenerative disorder. His research utilizes a laboratory mouse model of SMARD to explore potential therapies that would modify or neutralize the defective gene that underlies SMARD.
Learning about this research has brought hope to the Werners and other families in the SMARD community. They now are doing everything they can to help make SMARD a priority at The Jackson Laboratory by raising funds to advance the research—work that could possibly help Silas and his peers.