Why do bad things happen to good people? This question has been asked since the beginning of time.
Marci and Brian Scher and their twins, Becca and Ian, are among those people. They are good folks, faced with a situation that would be unimaginably difficult for anyone.
Last July, after coping with their son's mysterious and debilitating symptoms for years, they finally received a diagnosis. Ian, 9, is suffering from a condition know as pontocerebellar hypoplasia with spinal muscular atrophy (PCH1A), and he is only the third documented case of the disease in the world. The two other cases are twin girls in Israel, who, like Ian, are of Ashkenazi descent. The disease is incurable and untreatable.
Ian's diagnosis was made after he administered a new genetic test known as the exome sequencing test. The Schers were the 13th family at Kennedy Krieger Institute to have the test. Ian's results showed a mutation on the VRK1 gene, and subsequent tests performed on his parents showed they both carried the same auto-recessive mutation.
The Schers' saga began when the twins were born early, at 34 weeks. As a newborn, Ian had trouble breathing on his own and had microcephaly (an abnormally small head). Despite some developmental delays, he received early intervention services and appeared to be progressing well. Then, in the summer of 2009, Ian, then 6, experienced a sudden and dramatic regression. "He lost all his motor skills," said Marci. But since all medical tests came back normal, a diagnosis could not be made.
Although Ian regained some of his skills, in December 2009, he suffered another regressive episode. This time, his motor function didn't return. In April 2010, the results of a spinal tap convinced his doctor to place him on medication usually prescribed for Parkinson's patients. Ian started to walk a bit, Marci recalled, but soon lost that ability.
One year later, the Schers went to Utah, where they met with a specialist in motor disorders. At that time, Marci and Brian believed Ian was suffering from a dopamine deficiency that was affecting his movement. They were hopeful that with the right treatment, Ian could recover.
Instead, the Schers were told Ian suffered from a type of neuromuscular disorder.
"That's when we learned it was a progressive, non-reversible, untreatable disease," Marci recalled. Ian began using an electric wheelchair in 2010.
To make matters worse, a referral to a pulmonologist let to the discovery that Ian had only 30 percent lung function.
In early 2012, the Schers were contacted by Dr. Gerald Raymond, Ian's longtime neurologist and geneticist, about the exome test.
Leila Jamal, a genetic counselor at Kennedy Krieger Institute, explained the testing process and results to the Schers.
"The situation was devastating," said Jamal. "But the Schers are phenomenal - strong and articulate; they learned everything they could learn. One of the difficulties of tests like this is that finding an answer doesn't mean we have a cure. But there's immense benefit and value to having a diagnosis, because even if there is no cure now, the test can lead to cures in the future."
"When we got our blood drawn for the exome test," Marci remembered, "I knew in my gut, it would show something rare; it wouldn't benefit Ian, but it would benefit the rest of the family. In some ways, getting the diagnosis changed nothing. We had known the prognosis since Utah, but it did take away the unknown, the wondering."
In addition, the Schers' relatives can now decide whether or not to be tested to find out if they are also carriers of the VRK1 mutation.
Most anyone would wonder how the Schers cope with the ongoing trauma of Ian's illness while balancing the parenting of Becca, a typically functioning 9-year-old, their work lives (Marci is assistant to Chizuk Amuno's executive director and Brian is an accountant) and the day-to-day stressors that all of us face. Both Marci and Brian admit they have "had their moments."
Brian said he gets frustrated more easily than Marci.
"But we complement each other. When she gets frustrated, I'm there to pick up the slack...It's just part of our lives. We don't think, we just do," Brian said. "In a way, Ian's almost as active as other boys. He does Cub Scouts and Hebrew school, adaptive sports."
Of course, sometimes the Schers are sad.
"There are times when we're at scouts and I see the other boys running around and I see other boys and their dads, and I feel sad, but I wouldn't give him up for the world...Once you talk to Ian, you're hooked," Brian said.
"Ian wants to walk again and and wonders why he's different," Marci said. "He'll say, 'I used to be able to make a fist,' 'I can't roll over in bed anymore.'"
And they worry about Becca.
"We have to remember she's only 9. We want to give her as much time as possible and give her a childhood, too," Brian said. "I try to make dates for dinner and to go out for ice cream [with her]."
"It's isolating having a child with a disability," Marci said. "You can't just go to a party and have conversations and let the kids go off on their own. You're on duty 24/7, even after bedtime. If Ian's uncomfortable, I have to go in and turn him over, take him to the bathroom. He's getting heavier, so it's hard.
"When we applied for funds for Ian's bath chair, a wheelchair ramp and stairlift, we were told they weren't medically necessary. When we've tried to get help at home, we've been told his condition isn't serious enough, [that] his care is only custodial. Where are the resources for families in this situation?"
"Sometimes, I get angry," added Marci, "but being angry all the time isn't going to help me or us or anyone. It's not going to help make good memories. We just want to give him and Becca all we can."
Sitting around the Scher's family room on a recent afternoon, one could definitely feel the love. There was laughter and gentle teasing. Ian was lying on the sofa, while his family sat around him on the carpet. It was hard to hear his voice due to his lung condition, but Ian was eager to talk with this reporter. His major complaint? He has difficulty sleeping because he is frequently uncomfortable. Otherwise, Ian spoke about the things that make him happy - and there are plenty of them. Ian loves his family, school, his friends and Hebrew school at Chizuk Amuno. His father, said Ian is his "best buddy. We will never break up," he declared. Indeed, Ian exudes sweetness.
Becca was bubbly and charming. Snuggling with her mother, as Marci braided her hair, she shared her worries about her brother. "I worry all the time - especially at times like last December, when Ian was in the hospital. I worried every second and I was only allowed to visit him one time." Becca admitted it is difficult having a brother with special needs. Other kids, she shared, don't understand what it's like. "Sometimes they ask me why he's in a grade lower than me. I say 'I don't want to talk about it.'"
Ian reciprocated his sister's concern. "I worry about Becca too," said Ian. "I made her a get well card when she was sick." And although he experiences a great deal of discomfort, and meets with tremendous adversity, Ian's outlook is remarkably positive. Other than his family, Ian's favorite thing is Spiderman. Recently, the family took a "Make-a-Wish trip where Ian was able to meet his superhero. "I think he was bitten by a spider," said Ian. "He can shoot webs. Spiderman can do everything I want to do."