Imagine your child is diagnosed with a rare neurological condition. So rare that there are only a handful of reported cases, and those are from halfway around the world.
This was the case for Chris and Kasey Edwards of Massachusetts and Kevin and Angela Duffy of Pennsylvania. Their daughters’, Robbie and Molly, are among only 11 children in the world to be diagnosed with an extremely rare genetic disorder, called spastic parapalegia-47 (SPG47).
“When they told us how rare this was, our minds were going in a thousand directions,” says Kasey, Robbie’s mom. “We didn’t know what to think.”
The two families thought they were all alone, until they found each other. And on a recent warm fall afternoon, these two adorable girls and their parents met in person for the first time at Boston Children’s Hospital, where they both receive care. …
Six-year-old Madelyn knows why she has to see a special team of doctors twice a year: she had brain surgery as a baby. But she doesn’t yet understand the full weight of the story.
“She knows there was a problem with something in her brain, and she had to go to Boston for special care, where the doctors made it all better,” says her mother, Julie. “She knows the team still checks in on her to make sure she stays healthy.”
As she gets older, Madelyn will be able to comprehend more and more. Someday she’ll realize not only just how lucky she is to be alive, but the incredible ordeal her parents went through when she was just 5 months old.
A mysterious illness
It was Valentine’s Day, 2011. Six-month-old Madelyn was sick — VERY sick. Her worried parents, Julie and Matt, took her to her pediatrician, who thought she was suffering a virus because she did not have a fever.
“We took her home, but this virus wasn’t going away,” says Julie. “Eventually it got so bad we had to take her to the Southcoast Hospital emergency room (ER). She wouldn’t stop vomiting and couldn’t keep anything down, not even medicine.”
In the ER, Madelyn was so limp “she felt like a rag doll in my arms,” Julie says. That tipped off the doctor on call, Dr. Sara McSweeney-Ryan, to order an MRI.
“Dr. McSweeney-Ryan is the first doctor I credit with saving Madelyn’s life,” says Julie.
On MRI, it was clear that there was a problem in Madelyn’s brain, and her life was in danger. McSweeney-Ryan knew exactly where Madelyn needed to be.
“We thought, it’s already 1 a.m., maybe we can stay the night,” says Julie. “But they ordered an ambulance to take us to Boston as quickly as possible. There was no time to lose.”
“I’m so excited to babyproof my house,” says Elisa Holt. “I haven’t had to. Now, Noah wants to climb and do all of these normal baby things.”
The toddler, born in March 2014, sailed through his first six months of life.
As summer turned to fall, enterovirus D68 (EV-D68), a mysterious virus linked with paralysis, started to dominate headlines.
On Oct. 3, 2014, Elisa was nursing Noah when she realized something was wrong with her son. “I went to sit him up and he just fell over. I did it again and the same thing happened.” When she realized he wasn’t moving his feet, legs or toes, she called her son’s pediatrician, who directed her to Beverly Hospital.
“We are so so thankful for the emergency room doctor [Dr. Munirah Qualls] who told us, ‘I don’t know. I’m going to send you to Boston Children’s Hospital.’ I know Noah would not be where he is today if the Beverly Hospital doctor did not move us as fast as she did.”
Within 15 minutes, an ambulance arrived to rush Noah to Boston Children’s. The emergency department was on high alert for EV D-68 — a tricky virus that can mask itself as many other illnesses.
“Noah’s doctors were racing against the clock to make a diagnosis,” Elisa says.
She and her husband Mitch cuddled their baby boy.
“We were waiting to see what Noah’s future held. How did we end up here? Would his paralysis be reversible?”