Stories about: Second opinion

Calvin’s gift: Second opinion provides answers and hope

movement disorder

It’s not often that parents breathe a sigh of relief when their child is diagnosed with a chronic, potentially debilitating condition. But that sense of peace is just what Paula and Scott Hurd felt when they were told that their son, Calvin, had a rare movement disorder. “We were so happy to finally understand what was happening,” says Paula.

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Second opinion gives unborn baby second chance

fetal second opinionSeven-month-old Charlotte Bent is hitting all of her developmental milestones — smiling, laughing, playing peek-a-boo, bearing weight on her legs. Her parents, Jennifer and Keith, are overjoyed.

“It’s a complete 180-degree turn from where we thought we would be this time last year,” says Jennifer.

After struggling to conceive their second child, the couple was thrilled when Jennifer became pregnant. The results of genetic testing were normal and confirmed they would be welcoming a daughter in April.

Jennifer felt the baby’s first kicks on Nov. 23, 2015.

The next day, she was scheduled for an anatomy scan. “At first, everything seemed normal,” recalls Jennifer. But as the obstetrician was helping her from the exam table, he looked at Jennifer. “I have some concerns,” he told her.

“My heart dropped,” she says. Joy turned to devastation.

“I think your baby is missing part of her brain,” the obstetrician said.

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Father and son find unexpected connection

cavernous malformationMatty Siegrist and his dad Tim share the same thick brown hair and ready smile. They also share a trait that’s not so visible — a mutation in the CCM3 gene that causes cavernous malformations, abnormal blood vessels that form in the brain and spinal cord. When these blood vessels leak, they can cause seizures, headaches and a host of other problems.

A lively and high-spirited 2-year-old, it’s hard to believe Matty recently had brain surgery or that before the surgery he was struggling to walk because his balance was so poor. Matty’s surgery, performed by neurosurgeon Dr. Edward Smith, of the Boston Children’s Hospital Cerebrovascular Surgery and Interventions Center, had removed one of the larger malformations from his brain.

Tim also had brain surgery as a child, but at that time his doctors didn’t fully understand his condition or realize it was genetic. Tim rarely thought about it again until Matty started having strange symptoms, at around 13 months.

“He had been saying a few words, and then he just stopped,” says Matty’s mom, Jessie. “Then he started sleeping a lot. His doctor tested his thyroid and ran a couple of other tests, but they couldn’t find anything wrong.”

Concerned about these symptoms, Matty’s pediatrician recommended they see a neurologist near their home in Connecticut. The neurologist ordered an MRI and diagnosed the cavernous malformations, but she assured them that they often remained stable and didn’t require treatment.

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Less is more: Second opinion spares Sam from risky invasive surgery

tethered spinal cordLike many moms, Brenda Jackson worried about the transition to middle school for her son Sam. He had had mysterious wetting accidents ever since potty training. Doctors had diagnosed an overactive bladder and tried everything — behavioral interventions, medications and dietary changes.

Nothing worked. Fortunately, Sam attended a small Montessori school where all the kids knew and accepted each other.

But as he was getting ready for fifth grade, the specter of middle school, and the teasing that comes with early adolescence, loomed. “That’s a new ball game,” says his Brenda. “We knew we had to take care of this.”

Because Sam also had constipation, the urologist at his Midwestern children’s hospital sent him to a gastroenterologist to see if addressing it would reduce Sam’s wetting accidents. The urologist put him on a medication meant to stop the spasms that were making him lose bladder control. It didn’t work.

It was such a relief to know that Sam was able to have a less invasive procedure. Boston Children’s made a very stressful process easier and had the confidence to take care of it.

Sam’s doctors and parents continued to search for answers. A dimple on the boy’s lower back suggested something wrong with his spinal cord, so Sam was referred for an MRI of his spine.

“We got a call the next morning that Sam had a thoracic syrinx [a collection of fluid inside the spinal cord’s central canal] and that we needed to see a neurosurgeon,” says Brenda. “The neurosurgeon at our hospital had never seen one.”

The local radiologist and neurosurgeon thought the fluid was compressing the nerves that controlled Sam’s urinary tract.

After two more MRIs, the doctors recommended surgery for the syrinx. It would involve inserting a shunt (tube) inside Sam’s spinal cord to drain the fluid into his abdomen — a highly invasive operation that carries a risk of causing paralysis. Plus, shunts often fail over time and have to be replaced.

Something didn’t ring true for Brenda. Her skepticism grew. She researched Sam’s condition and found few pediatric hospitals had published anything about it. One of those that did was Boston Children’s Hospital.

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