Ray Duckler: A little boy, a diagnosis and hope for better years ahead
Tosh Cochrane, 7, steps in to his boots with his mother's help, Breanna Smith, at their Concord home on Tuesday evening, December 24, 2013 as they get ready to head out for the evening. Tosh has a rare metabolism disorder called Sanfilippo syndrome, which doesn't allow his body to break down long chains of sugar molecules. (JOHN TULLY / Monitor staff)
Breanna Smith wasn’t expecting anything out of the ordinary the day her life changed, five years ago.
She expected her 2-year-old son, Tosh, to say “truck” after seeing one pass the family car. Tosh always spoke clearly when he saw something he recognized.
So why wasn’t he saying it this time? Why just a grunt?
Smith waited for an answer, for five years. She waited through all kinds of testing and many sleepless nights, until doctors told her three weeks ago that Tosh, now 7, has a rare disease, Sanfilippo syndrome, that prevents the body from breaking down long chains of sugar molecules.
There is no cure. Doctors say Tosh’s lifespan will be 18 years. Smith will apply to join a clinical trial next summer in North Carolina, where she and Tosh, if accepted, will spend six months as the medical community tries to solve a mystery.
“Some days it’s hard,” Smith said. “I try not to think about the future too much.”
The past has been no bargain, either. Her first husband, Tosh’s father, died suddenly six months ago. She had remarried long before his death, but her second marriage was unsuccessful.
Three years ago, Smith, now 31, met a Concord High graduate named Kyle Davis, a 27-year-old firefighter who works 24-hour shifts seven or eight times a month on Cape
Cod. Davis had custody of his own two children.
The two have formed a Concord family that includes Tosh plus Davis’s two children, Deklan, 7, and 4-year-old Ireland.
The kids made ornaments this week for their Christmas tree. “I love my kids,” Smith says. “I love Kyle, and I love my life.”
Still, their challenges are many.
For one, Davis has fallen in love with a woman whose son has not completely accepted him.
“It’s an on-again, off-again relationship,” Davis said. “There are times he cuddles up in my arms and then he realizes what I am doing and that I’m not his father and he moves away.”
Davis has also taken on the responsibility of raising a child whose verbal skills make him hard to understand, whose behavior is sometimes unruly because of his illness, and who needs special attention in school.
Two years ago, Smith said, pressed by the demands of caring for Tosh, she lost her job at Concord Hospital.
“I was out a lot with Tosh,” Smith said. “He seemed to get every sickness that came our way, as well as we were having trouble with getting him to school.”
Only recently did she find work again, as a part-time receptionist in Manchester.
Such is life for the mother of a child with an illness few have even heard of.
It affects one in 70,000 newborns, and sometimes takes years to diagnose, as was the case here. It wasn’t until Tosh reached 2, around the time the family car passed that truck, that Smith saw cause for concern.
Suddenly, Tosh had trouble pronouncing words. His appetite faded. He could no longer sit still.
Doctors scratched their heads and told Smith that Tosh would grow out of these problems, that it was normal. Or perhaps he was autistic. Or had Attention Deficit Disorder.
Tosh grew frustrated as well, trying to tell Smith what he wanted, then taking her by the hand to show her. If that didn’t work, he sighed, or grew impatient and cried.
Finally, after further blood and urine testing, Smith learned the truth. Something about low nerve impulses. Something about abnormalities in his blood.
Something about a shortened lifespan.
“I instantly started crying and couldn’t breathe,” Smith said. “There is so much to what is going to happen to him, it made me sick.”
They’ve had three weeks to adjust, and two days before Christmas there was no hint of what could await Tosh – the inability to swallow, organs shutting down – if a cure is not found.
Instead, the three kids made their ornaments in a warm environment. Tosh is hard to understand, but his smile, which revealed the loss of a baby tooth, told you what you needed to know.
Meanwhile, Deklan, whose second-grade class is adjacent to Tosh’s, plays with him, at home and in school. Somehow, some way, Deklan knows what Tosh is saying, while others don’t.
“I can just understand him,” Deklan said. “He’s my brother.”
Mom, of course, understands Tosh better than anyone else. Smith wants to raise awareness about this condition and exchange stories and ideas with other families whose children have been affected by the same disease.
She wants to hold fundraisers, and she wants a medical breakthrough, perhaps during the clinical trial that she hopes will include her son.
“The first week we found out was awful,” Smith said. “I cried every day, and I didn’t sleep even one day. But now I’m active, and I’m researching, and I’m loving him each day we have.”
(Ray Duckler can be reached at 369-3304 or firstname.lastname@example.org or on Twitter @rayduckler.)