Author: Nancy Fliesler

Saving Vanessa, part 1: A mystery rash, a stroke and an epic rescue

DADA2-Vanessa

Vanessa’s rash first appeared on her arms and legs when she was 3 or 4 months old. It was red and bumpy and went away when she was sick with a virus, which happened often. Then it would come back. The dermatology team she saw at Boston Children’s Hospital was puzzled.

“I was expecting they were going to think it was nothing, but they took it very seriously,” says Katherine Bell, one of Vanessa’s mothers. “They took a biopsy and very quickly realized they had no idea what it was.”

Vanessa’s case was even featured at a regional dermatology conference where doctors take up mystery patients. “A hundred to 150 dermatologists looked at her,” says Katherine. But no one could pinpoint a diagnosis.

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6 questions answered about anxiety in children and teens

Focus on anxietyBetween school and social demands, lots of children feel stress, but at what point does anxiety cross the line and become a mental health concern? We sat down with Keneisha Sinclair-McBride, PhD, a clinical psychologist in the Department of Psychiatry at Boston Children’s, to better understand what separates serious forms of anxiety from normal worrying, whether seeing a therapist is warranted and how to handle anxiety at home.

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New FDA-approved drug is offering hope in spinal muscular atrophy

Spinraza spinal muscular atrophy
Sofia, now almost 3, was not predicted to live to age 2, let alone stand or walk.

All signs were positive when Sofia Wylie was born: normal term delivery, great Apgar scores. “But at her two-month checkup with the pediatrician, she wasn’t lifting her head well, and her reflexes were weak,” says her mother Natalia. “She was like a rag doll.”

The pediatrician referred the New Hampshire family to a neurologist. Sofia received genetic testing, and the news wasn’t good: she had spinal muscular atrophy (SMA), a rare paralyzing disease. Even worse, she had the most severe form, SMA Type 1, which starts in infancy. Usually babies with this form, also known as Werdnig-Hoffmann Disease, rapidly lose muscle strength. Ninety percent die by the age of 2 years from respiratory failure unless they receive aggressive and invasive respiratory support.

“The neurologist said, ‘I’m very sorry, but this is a terminal disease. Enjoy the little time you have together,’” recalls Natalia.

Sometimes called a baby version of ALS, SMA is the number one genetic cause of infant mortality. But just before Christmas, the Food and Drug Administration (FDA) approved a new drug called Spinraza (nusinersen) that has given Sofia another chance.

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Families with Apert syndrome find similarities, not differences

Apert syndrome
Madilynn and her father Rocky

For some families in the waiting room on the day of the Apert syndrome clinic, it’s a reunion. For others, it’s a revelation. Coming to Boston Children’s Hospital from as far away as China, some have never met another child with Apert syndrome. Before long, parents and kids of all ages and ethnicities are taking group selfies as the younger children run around and play.

“These kids have the brightest smiles, they’re very resilient,” says Tambra Milot, mother of 3-year-old Madilynn.

Each year, the clinic sees about 50 children with Apert syndrome, a rare genetic disorder in which the skull, face, hands and feet develop abnormally. The clinic is held at least twice a month, bringing together the specialists each child needs to see. Today, families are also here for the weekend, to exchange information and learn about the latest research at Boston Children’s 2016 Apert Family Symposium.

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