Down Syndrome and Alopecia: Rosie’s Story

“I’m in awe of the way Rosie touches people,” says her mom, Elaine Marchese. “She is so vibrant and joyful and loving. She is truly the heart of our family.”

Rosie was born with Down syndrome and later developed alopecia (hair loss), and she doesn’t try to hide her differences. Instead — with the confidence instilled by her supportive family — she embraces them. She loves to be the center of attention and often wears headbands with large flowers to match her outfits.

Rosie’s learned she can’t blend in when she was born to stand out. And her family wouldn’t have it any other way.

Getting help when needed

Elaine and Anthony learned that Rosie, their fourth child, would have Down syndrome before she was born. Also known as trisomy 21, Down syndrome is the most common chromosomal anomaly and causes intellectual disabilities and other health issues.

Rosie was born with an atrioventricular canal heart defect that was surgically repaired a few months after she was born. A few years later, doctors diagnosed Rosie with hypothyroidism (an underactive thyroid) and told her family she would need to take medication for the condition every day for the rest of her life. Then, her hair started falling out.

Rosie’s parents turned to Mary Pipan, MD, Director of the Trisomy 21 Program at Children’s Hospital of Philadelphia (CHOP), and a national expert in caring for children and adults with Down syndrome.

Rosie underwent a complete examination by a team of specialists at CHOP. Physical and occupational therapists were impressed with her wide range of motion and her developmental skills. Doctors confirmed her previous diagnoses and determined she had alopecia universalis — total hair loss on her head and body. Her hair will not grow back.

Dr. Pipan explained to the family that alopecia is more common in individuals with Down syndrome than in the general public. In fact, about 10 percent of patients with Down syndrome will develop partial or total hair loss during their lifetime.

“Rosie tried wearing a wig, but only wore it twice,” Elaine says. “She prefers flower headbands, bandanas or scarves — and she has quite a collection now.”

Keeping up with her siblings

Rosie benefited from Early Intervention services, and though she was slower to achieve typical childhood milestones like talking, crawling and walking, she eventually mastered them all.

“We encouraged her but didn’t pressure her,” Elaine says. “We knew she was going to do things in her own time.”

Even as a baby, Rosie was motivated to succeed. She was determined to keep up with her older siblings, Giovanna, Anthony and especially Sofia who’s only a year older than her.

The four children are close in age — five years separates the oldest and youngest — and they “have an amazing bond,” Elaine says. Today, each sibling has a unique relationship with Rosie.

“I love that she sings and dances with me,” says Giovanna, 15. “And she always gives me a big hug when I need it.”

Rosie shares her room (and her secrets) with 11-year-old Sofia, who says her younger sister is “always happy to see me.”

Thirteen-year-old Anthony says he and Rosie love to laugh and tease each other. “Rosie has a great sense of humor,” Anthony says.

Enjoying reading, math and music

Rosie attends public school and is in total inclusion classrooms where she learns side-by-side with her typically developing peers. A teachers’ aide is available if she needs help.

An avid reader who prefers stories about princesses, fairy tales and magical adventures, Rosie reads above her grade level. She also loves math, but it’s a bit more of a challenge for her, Elaine says. But Rosie’s favorite class — by far — is music.

“I don’t know what we’d do without music,” Elaine says. “It inspires her and makes her so happy to sing and dance. She knows all the words and can sing karaoke for hours.”

“Taylor Swift is my favorite,” Rosie says. “I know all her songs. I also really like musicals like Frozen, Moana, and The Greatest Showman … Do you want to hear one?”

In the summer, Rosie attends theater camp, and at the end of each session, they perform a show for an audience of friends, family members and supporters. Past shows have included 101 Dalmatians and The Frog and The Toad. This year, Rosie has a speaking part: She’s “Susie the mouse” in Cinderella.

A bright future

Rosie dreams of going to college — and that’s a real possibility, her parents say, thanks to programs developed specifically for children with developmental disabilities at places like Rowan University and West Chester University.

“We’ve put no limitations on her,” says Anthony, Rosie’s dad. “We want her to do whatever makes her happy going forward.”

Says Rosie: “I’m gonna be a rock star.”

In 2018, Rosie was named a Champion for the CHOP Buddy Walk® and Family Fun Day, where she represented other children with Down syndrome. Her team, Rosie’s Rockin’ Rebels, raised significant funds that will benefit CHOP’s Trisomy 21 Program and help other children and adults like her.