Down syndrome: Reimagining what’s possible

Ella kisses baby Juila on the cheek.
Photo credit: Nicole Starr

I first met Ella Gray Cullen in the Advanced Fetal Care Center (AFCC) of Boston Children’s Hospital, shortly after she had received a prenatal diagnosis of Down syndrome. Like many parents expecting babies with conditions that can be diagnosed prenatally, she wanted to know more.

We talked about the additional medical screenings that would be recommended for her daughter to evaluate for cardiac defects and other conditions that are more common in children with Down syndrome. We discussed the developmental supports through Early Intervention and school that would be available to help her daughter learn and develop to her best ability. And, we talked about breastfeeding.

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Cavernous malformations: What parents need to know

They’re among the more common cerebrovascular problems in kids. But few parents have heard of cavernous malformations until their own child is diagnosed. These small masses are comprised of abnormal, thin-walled blood vessels. While they can occur anywhere in the body, they’re most likely to cause problems when they form in the brain and spinal cord.

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A biventricular repair for Jayce’s one-of-a-kind heart

Jayce, born with heterotaxy syndrome, crawls through a tube at the playground.Amanda Mattioli was working in Afghanistan as a government contractor and had just completed a whirlwind round of travel to three separate continents when she learned she was pregnant.

The helicopter unit that took her back to the main base so she could return home for her pregnancy gave her a unit sticker to commemorate her baby’s first helicopter ride. Little did she know it would also mark the beginning of a much longer journey for her and her son, William “Jayce” James.

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The tube, the team and the family that give life

Parenteral-Nutrition-Naema-BostonAs 2-year-old Naema Alshehhi turns the pages of her favorite book, her eyes glimmer with curiosity. Sitting with her father, Àbdulla and big sister, Dana, in their temporary Boston apartment, the inquisitive toddler points to a number of shapes and is fascinated by the rainbow of color.

During this quiet moment, you see the gentle outline of Naema’s central line through her tiny shirt. The lifesaving tube — surgically inserted into her chest — provides the nourishment needed to manage the rare intestinal disorder she was born with, called microvillus inclusion disease (MVID). The condition, which causes severe diarrhea and an inability to absorb nutrients, requires specialized parenteral nutrition (PN) and intravenous hydration support at home.

For the Alshehhi family, however, “home” is over 6,600 miles from Boston.

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