WALNUT CREEK -- When Danielle Terborg learned her 3-month-old son, Logan, had a rare illness called SMARD -- spinal muscular atrophy with respiratory distress -- she was faced with a difficult decision.
Doctors told her she could give him "comfort care" or hook him up to breathing and feeding tubes for the rest of his life, with the knowledge that he may not live until his second birthday.
"It was our family's belief that it was best to do everything we can and give him the best life possible," said Terborg, who brought Logan home from Children's Hospital Oakland in September.
Before that, she and other family members spent hours by Logan's side, playing with the blue-eyed, dimple-cheeked boy whose smile fills the room, even if he has a ventilator tube that keeps him alive. His grandmother, Peggy Thomas, and his mother alternate caring for him, along with in-home nurses. In the meantime, they have also researched his disease, finding one boy with it has lived to age 20.
Dr. Gregory Cox, a researcher at the Jackson Laboratory in Bar Harbor, Maine, is one of the few scientists in the world studying the disease and trying to find a cure.
It is so rare, he said, that statistics about how many children have it are not available, especially since so many victims die very young.
SMARD can sometimes be a cause of Sudden Infant Death Syndrome, or SIDS, without ever being identified, Cox said.
Terborg first noticed her son was
Cox said he and other researchers found SMARD is caused by a gene they identified in 1998. Both Terborg and her husband carried the gene but had no family history of the disease.
Cox is aware of the 20-year-old SMARD patient but said most children with the disease die at 2 or 3.
"People can live that long," Cox said, "but it really requires aggressive intervention to do that."
This gives Terborg and her family hope. As long as Logan is happy and comfortable, she said, she wants to keep him alive.
"If his quality of life changes and he's miserable and suffering, we might have to make different choices for him. But right now, he's a happy-go-lucky kid. It's a very delicate balance, and things are always evolving and changing. He's doing so well. He's beating the odds all the time."
For additional details about Logan Terborg's condition, go to the On Assignment blog at www.ibabuzz.com/onassignment.