Patient StoryFeb | 28 | 2022
Josie’s story: A holistic approach ensures preschooler with Down syndrome thrives in all aspects of life
On a bright, sunny day, Josie and Maddie Murray, both 4, set their feet on the imaginary starting line of a race across the grass in their backyard. On the count of 3, Josie took off while Maddie stayed just a few feet behind, giving Josie, who has Down syndrome, a loving head start. As Maddie approached the finish line, Josie greeted her with a congratulatory hug.
Karen Murray and her husband, Joe, were thrilled when they learned they’d be having twin girls. A week after their daughters were born, one of the twins, Josephine, affectionately called Josie, was diagnosed with Down syndrome. Their pediatrician referred the Murrays to the Down Syndrome Program at MassGeneral Hospital for Children (MGHfC), directed by Brian Skotko, MD, MPP, a medical geneticist at MGHfC.
The initial shock of Josie’s diagnosis was overwhelming for the Murrays, who live in Norwood, Mass. “As new parents, we were already navigating having twins, and then we received the Down syndrome diagnosis, so there was definitely an adjustment period,” said Karen. “You have to shift your thinking about what you thought your life was going to be like. But as Dr. Skotko once told us, then you get connected to this amazing community among families whose children have Down syndrome that you’d never know about unless you were part of it.”
When families first enroll their children in the Down Syndrome Program, they are introduced to a multidisciplinary team, including specialists in genetics, nutrition, social work, vision care, audiology, resources and a therapy team, made up of a physical therapist, an occupational therapist, and a speech-language pathologist. This team-based approach allows providers and families to care for the child in a holistic way and establish common goals and expectations.
“From the very beginning, Josie lit up the room,” said Skotko, who is also the Emma Campbell Endowed Chair on Down Syndrome at Massachusetts General Hospital. “Our whole team considers it a privilege to take this journey with Josie and her whole family.”
The holistic approach of the Down Syndrome Program and MGHfC works well for the Murray family. “MGHfC is so well-rounded for Josie’s needs. When we bring Josie for her semi-annual visit, we receive customized information and resources specific to her age and her personal growth regarding nutrition, physical therapy, speech therapy and many other aspects of her daily life,” said Karen. “We’ve never felt alone and everyone is so responsive and helpful.”
Developmental delays are common in children who have Down syndrome, including the development of gross motor skills, like rolling over, crawling, sitting, pulling themselves to stand or walking. “When Josie was a baby, we were concerned that she wasn’t sitting up in a similar timeframe as her twin sister,” said Karen. “Dr. Skotko and his team explained how her trajectory may be different and that was reassuring.”
As Josie reached the toddler stage, the focus of her care was on making transitions smoother, especially with school. Josie started her journey with Early Intervention (EI), a state-run program for children ages birth to 3 who have developmental delays. As she reached preschool age, a crucial part of her transition out of EI was ensuring she received special education services at her new school In the Down Syndrome Program, two social workers - Clorinda Cottrell, MSW, LICSW, and Caroline Bregman, MSW, LICSW - help families with the resources and support they need at every stage of their children’s lives, which proves to be an immense help.
“There are many transitions along a person’s lifespan, including those with Down syndrome. When it was time for Josie to start preschool, I helped her family understand what to expect when she leaves Early Intervention and when she starts preschool,” said Cottrell. "Josie has a wonderful circle of support around her. She is a fun and curious girl who is such a joy.”
Both girls now attend Little Mustangs Preschool Academy, an immersive preschool where classes are filled with children with identified special needs along with peer role models. Josie and Maddie have benefitted from the inclusive environment where they are seen as individuals but also get to learn and play together. Both girls also receive services at MassGeneral for Children at the Brigham and Women’s/Mass General Health Care Center in Foxborough, Mass. – Maddie for endocrinology and Josie for additional therapies through Spaulding Outpatient Center for Children.
“Having a child with Down syndrome truly takes a village, and we are so happy to count MGHfC to be part of ours,” said Karen. “It’s a completely invaluable place.”
Banner photo of Josie Murray courtesy of Nicole Curran Photography.