Eleven very long anxiety-filled months. That’s what it took for Brittany Stineman to get a diagnosis for her baby boy while doctors and everyone else assured her he was probably fine. They even had her questioning her own sanity at one point as she tried to find someone who could tell her why Nash had stopped growing and was struggling to breathe.
She wouldn’t give up. But when she finally got the answer, it was more devastating than she or her husband Bobby could ever imagine.
“I go from ‘there’s nothing wrong with your kid to the life expectancy of a kid with this diagnosis is 13 months. Your kid is dying in two months. Basically, go home and love him because your time with him is running out,’” Brittany says.
Nash has the ultra-rare, fatal Spinal Muscular Atrophy with Respiratory Distress, or SMARD, not to be confused with the more treatable Spinal Muscular Atrophy that affects a different gene in the body. SMARD, often described as the ALS of infants, has been diagnosed in 100 cases worldwide.
There is no treatment. Yet.
“I just told myself, no option is just not an option for us,” Brittany says. “Why am I going to let someone dictate the time my kid has to live? My kid is not going to have an expiration date just because that’s what a piece of paper says.”
Just as she doggedly sought a diagnosis, she took on a new mission and began calling every researcher and expert who had ever been mentioned in connection with gene therapy and pediatric neuromuscular disease. She found Dr. Kathrin Meyer at the Abigail Wexner Research Institute at Nationwide Children’s Hospital in Columbus, Ohio, in November 2018. The next month, she and Bobby formed the SmashSMARD nonprofit and began quickly raising $3 million to fund Meyer’s research to develop gene therapy to treat the disease. They’re so close, just $250,000 more to go, with human trials set to begin this summer if the FDA approves.
Time, Brittany knows, sadly is not on their side.
Nash is 4 and weighs 19 pounds, the same amount his big brother, Blake, weighed at 4 months old.
“When we went into this, we had to come to terms with the fact that it was unlikely that Nash was going to receive the gene therapy based on what we knew about the disease. … Thinking about Nash’s future didn’t change our sense of urgency for other patients. Once I start doing something, until it’s done, I can’t stop,” she says.
“Most importantly, Nash, he’s the one who’s truly suffering. But he wants to be alive. I’m not going to take that away from him. I can’t. He has a smile on his face every single day. What do I have to cry about?,” she says through her tears. “He is the center of our lives even though he comes with a lot of strings attached. He is truly what keeps me going and why I can’t stop because he wants to be here. He’s shown us that a hundred times.”
The gene therapy being developed is a one-time, 15-minute infusion into the spinal fluid that brings a healthy copy of the defective gene to every cell in the body. “To think that 2 1/2 years of pounding the pavement and desperately seeking help is going to boil down to 15 minutes,” she says.
When did you know something was wrong?
Brittany says they did extensive prenatal genetic screenings before both boys were born just to be safe. It did not include SMARD. Blake’s was a typical pregnancy with his delivery at 36 weeks at 8 pounds. With Nash, she says she noticed he stopped moving mid-pregnancy and stopped growing. He, too, was born at 36 weeks, weighing 4 pounds, 12 ounces. He started rolling over at two weeks and stopped growing at five months. “I knew something was wrong but I didn’t think it would be this wrong,” she says.
How will you manage with the new baby (born in April):
“Nothing can possibly be harder than what we have gone through with Nash,” she says. Both Brittany and Bobby grew up in large families and had always planned to have four kids. She says they also wanted to make sure Blake had another sibling to help him navigate life if she, Bobby and Nash died. And yes, she says she knows that sounds morbid.
Has everything that’s happened changed the way you parent?
“I’ve always been a very hands-on parent,” she says. Now, she says she’s more laid back and her priorities have changed. “As long as you are trying your best and are a good person, that’s all I can ask.” She and Blake now spend their time together more wisely. “Time with them so much more valuable and cherished. It’s changed everything and changed our focus on what’s truly important.”
- Your most-hated household chore: Laundry. (Her husband does it!)
- Secret weapon for doing it all: Nash. Every day I wake up and say ‘what can I do to save this kid’s life?
- Favorite place in your house: My bedroom.
- The one thing you do just for you every day: Go to Starbucks.
- Her drink: a Venti nine-pump chia tea latte with no water.
HOW TO HELP: Donate to close the funding gap for SmashSMARD at smashsmard.org/donate. Every single penny donated goes to fund the research, Brittany Stineman says.
Follow Chicago Parent on Instagram.