Thomas "Bubby" Mosher Jr. was diagnosed with spinal muscular atrophy, a rare disease that affects about one in 8,000 babies.
RAEFORD, N.C. -
In October 2013, Thomas and Brittney Mosher welcomed a baby boy into the world. But after a few months, they learned he had a deadly disease that affects about one in 8,000 babies.
"He was born and he was fine," Brittney said of their son, Thomas "Bubby" Mosher Jr.
Over the next few weeks and months, she said Bubby missed developmental milestones. And after research of her own, Brittney thought her son had spinal muscular atrophy, a rare disease that many people have never heard of but is also the most common genetic cause of death for infants and toddlers. In fact, it is more common than cystic fibrosis.
Their doctors confirmed the diagnosis in the spring of this year, and by March Bubby had a collapsed lung and had so much trouble breathing that Brittney took him to the emergency room at the hospital near their Raeford home. A transfer to Cape Fear Regional Medical Center led to another transfer to Duke University Medical Center, where Bubby and his parents spent two months.
The disease causes Bubby to have weak muscles, which do not allow him to move his arms or legs much, sit up or raise his head. He also needs tubes to help him eat and breathe.
"His life expectancy is 2 years," Brittney said.
Bubby's care needs to be around the clock, so a nurse spends the night with Bubby while his parents sleep.
"If he was in distress you don't hear him cry like you would hear a regular baby cry," Brittney explained as part of the reason someone needs to be with Bubby at all times.
SMA is carried in a recessive gene. So a child whose parents are both carriers has a 25 percent chance of having SMA. The Mosher's 3-year-old daughter has no signs of the disease.
Brittney and her husband, who is a soldier in the 82nd Airborne Division, did not realize both of their families have had cases of SMA and that they are both carriers of the gene. So Brittney encourages anyone with a family history of SMA or anyone with a child who is not developing normally, to get a test for the SMA gene.
"It really could happen to anyone unexpectedly, if you don't know your carrying status," Brittney explained. "To find out your carrying status, it's just a blood test."
She said the earlier SMA is detected, the better off a child will be.
"We're just trying to make the best of it that we can and give him a happy life and let him know that he's loved," Brittney said.
Brandon is a North Carolina native and UNC alum who lives in Fayetteville, and covers Cumberland County and the Sandhills. Returning to North Carolina to work as a journalist is a dream come true for Brandon.