CHICAGO (CBS) — Every morning, Brittany Stineman wakes up in a way most people don’t.
Once up and about, her mind races with plans – on how to raise money for a cure and care for her son’s debilitating disease.
Stineman’s son Nash has a rare neuromuscular disease known as SMARD – or spinal muscular atrophy with respiratory distress. Only 60 people in world have this disease.
“He is the only person in Illinois that has it,” said Stineman, whose life has been consumed with endless visits with specialists, doctors and therapists who care for Nash to help him to the things most people do without thinking.
“It causes muscle weakness, which in turn causes respiratory failure in infancy, premature death,” Stineman said. “And basically the inability to do our every day functions, such as breathing, digesting food, urinating. It affects all of those very basic tasks.”
Nash’s mother said the actual diagnosis came when he was 11 months old. But she said that she noticed something was off when he was four months old and failing to thrive.
“We were told he had reflux. I actually had a doctor tell us that he was fine. That he would be walking with his brother and then it turned into seeing that he was not growing,” Stineman said.
Stineman was even told that she had postpartum but she said her intuition forced her to research more and go beyond what others had told her. It was months in hospitals, in Illinois and Ohio, before a diagnosis and a game plan was set to care for her child with such a rare disease.
“They sat us in a room with 20 people and I just knew it was something serious,” Stineman said who added that she was relieved to know that what was affecting her son could be identified.
Nash has a five-year-old brother named Blake. Stineman and her husband would take turns shuttling from Ohio to Illinois, where one parent would stay behind with Blake, while the other sat by Nash’s bedside.
“All I could think of at the time is how am I going to keep him (Nash’s older brother Blake) from the pain of losing his brother. How can I keep Nash happy until the inevitable happens. What I can do to avoid that from happening.”
When she mentions the inevitable, she’s referring to Nash’s prognosis. The life expectancy of an afflicted child is two years old.
She credits a supportive family and circle of friends to keep things relatively normal for her and her family. There is a clinical trial for a gene therapy for Nash. He qualifies for a treatment in 2020.
“Because there is this light at the end of the tunnel. We kind of in this area of darkness at this point we have to keep him safe,” she said. “In order for him to experience life.”
There are more than a dozen medical professionals, doctors, specialists, therapists, nurses and other who help Nash. Thanks to insurance, Nash’s medical expenses are around $15,000 annually. If it weren’t for insurance, his medical bills would total in the millions.
Last Sunday, Nash celebrated his third birthday. The boy, whose parents were was told by doctors he wouldn’t live past the age of two, celebrated his third birthday on Sunday.
Because he doesn’t get out often, it was a special day to be outside with familiar faces. Stineman said after she put up a Facebook post calling for people to come out celebrate his third birthday. She expected about a dozen but was overwhelmed when she saw a parade of firetrucks and other vehicles driving by just to wish him a happy birthday.
Stineman said despite knowing his condition, she works not do think about life without him.
“I haven’t had a long time to sort through the emotions because I’ve been fighting so hard to keep him alive,” Stineman said fighting through tears.
Click here for more information on SMASH SMARD and the foundation to help Nash and kids like him fight the debilitating disease.