Mount Sinai mom Stasia Scocca and daughter Sadie, 10, lean on each other as they adapt and thrive with limb challenges
Seated high in a rolling chair in an upstairs room of her Mount Sinai home, Sadie McGill extends her left leg and grasps a violin bow between her big toe and index toe. A custom-built wooden stand holds a violin near the floor below her.
The 10-year-old glides the bow back and forth with her left foot as the toes of her opposite foot press the instrument’s strings, bringing “Twinkle, Twinkle, Little Star” to life.
“It’s kind of like a finger in a way pushing [strings] down, but it’s actually my toe,” she said.
For Sadie, learning to play violin is just one of life’s challenges. Born with a rare genetic disorder that causes upper-limb defects and heart malformations, she navigates each day without full-length arms, making it difficult to perform tasks such as zippering a pair of jeans. But she hasn’t had to look far to learn how to overcome everyday obstacles. Her mother, Stasia Scocca, 44, who has lived all her life with the same disorder, known as Holt-Oram Syndrome or heart-hand syndrome, is her steady companion and guide.
“I think we’re very close because of the fact that we share this,” Scocca said recently as they look forward to celebrating Mother’s Day with family.
Sadie and her mom both have three fingers on each hand. Their arms have no forearm or elbow. While Sadie has range of movement in both arms and hands, her mother is mostly limited to using her right hand.
From ordinary tasks such as getting dressed each morning to more complex maneuvers like driving a car — a Subaru for mom, and Power Wheels or toy remote control cars for daughter — they adapt to finding solutions that allow them to thrive.
And they do it together.
“I don't ever want her to feel she can't do anything,” Scocca said.
Holt-Oram Syndrome affects approximately 1 in 100,000 people in the United States, according to Dr. Jake Kleinmahon, a pediatric cardiologist at Cohen Children’s Medical Center.
Most cases are the result of a mutation in the TBX5 gene, and about 75% of people with the disorder suffer congenital heart disease in addition to limb abnormalities, Kleinmahon said. The common heart defect is a hole in the upper or lower chamber of the heart that can cause heart disease. Some patients rely on medication while others need surgery. Sadie had open-heart surgery at 6 months old, while her mom did not require surgery.
The type of limb abnormality can vary as well, from the number of fingers that form to the length of the arm.
Kleinmahon estimated the hospital sees one or two cases a year. There’s a 50% chance of passing the gene on to offspring.
The syndrome is named after Mary Holt and Samuel Oram, doctors who first described the disorder in 1960 as they researched a family of four generations with congenital cardiac disease, in addition to skeletal anomalies, according to research published in the National Library of Medicine.
Symptoms can often overlap with other rare disorders, making diagnosis more challenging, according to the National Organization for Rare Disorders.
Recent advances in genetic testing allow doctors to more precisely identify such disorders, Kleinmahon said.
Robert Schulman, a certified prosthetist and executive director of Limb Kind Foundation, met the mother and daughter when they participated in the organization's Adaptive Runway Event in 2023. The Long Island-based nonprofit assists amputees across the world.
He said it's a “unique situation” when a genetic mutation causes a person's limb loss or limb difference, based on the people he has met; he added he hasn't seen many other examples of a mother and daughter with exact limb difference.
Scocca first heard the term Holt-Oram Syndrome when she was 35. To this day, she hasn’t met any other Long Islanders with the disorder.
When Scocca was born at Long Island Jewish Medical Center, the medical staff in the delivery room rushed the newborn out, her parents said.
“We have no rhyme or reason why this happened to Stasia,” said her father, Albert Scocca, of Sound Beach.
His wife, Nancy Scocca, said no geneticist she saw detected Holt-Oram when they brought Stasia for testing.
The parents took their daughter to occupational and physical therapists to help with her development. They scoffed when educators suggested she should be in a classroom with mentally disabled children.
“Everything that we needed to do with Stasia back then when she was a child was a battle,” Albert Scocca said.
They moved from Queens to Sound Beach in search of better schooling and found a home in the Rocky Point school district, where she attended regular classes in a supportive environment. At one point, she said, the school raised funds to purchase a desktop computer for her to use at home so she didn't have to write by hand.
Scocca graduated Rocky Point High School, where she met George McGill. The high school sweethearts later married.
Scocca, who works at Brookhaven National Laboratory in the quality management office, met with a geneticist after she got married, hoping to understand any potential risk. But no clues emerged.
In July 2013, Scocca learned she was pregnant. She wondered if there was a chance her child could be born with the same genetic anomaly.
About two months later, during an ultrasound exam, she realized something was amiss when the technician left the room and sought the doctor. Scocca called her husband through tears to share the news that their child also would have a limb abnormality.
“I didn’t want her to struggle,” she remembers thinking.
The news didn’t hit McGill as hard. He believed his wife could do anything, and he expected his child would be able to do the same.
“I just knew she would have the best teacher,” said the father, a building automation controls technician.
At the time, they didn’t understand the full ramifications of Sadie’s condition. A pediatric cardiologist uncovered a heart issue shortly after Sadie was born. It wasn’t until a few months later, Scocca said, that they realized the severity.
Sadie was born with an atrial septal defect, or a hole in the upper chamber of the heart. The bigger concern, her mom said, was the pulmonary vein going into the wrong chamber of the heart.
Sadie's heart has been healthy since surgery in 2014, her mom said.
Scocca's own childhood heart defect, by comparison, was minor. The ventricular septal defect, or hole in the wall that separates the two lower chambers of the heart, closed on its own, she said.
Just like her mom years earlier, Sadie needed occupational and physical therapy. She couldn’t crawl but scooted on her butt, as her mom had done. She learned to use her toes and fingers in different ways.
Sadie's mother took her to a pediatric geneticist shortly after she was born. Her daughter's heart issue signaled “a light bulb" for the geneticist, who suspected Holt-Oram Syndrome — a term she had never before heard. A blood test later confirmed the disorder in Sadie.
“I'm 35 years old and I just found out the name for my disability I've had my entire life," she said, reflecting back on that moment.
For Scocca, becoming a mother was “very overwhelming” and “nerve-wracking.” The family modified her crib and built a French door-style opening so she didn’t have to reach down to scoop her baby. Her husband constructed a transportation device out of a furniture dolly that his wife could use to pull their baby from one room to another. They extended the handles on a stroller so she could push it.
“It was just kind of being creative and trying things out,” Scocca said.
Ten years later, Scocca marvels at how her daughter’s development has allowed her to reach milestones faster than she did.
Between kindergarten and first grade, Sadie aged out of occupational therapy. The therapist told Scocca she had done all she could for Sadie. Her mom was now the best instructor.
Scocca, by comparison, continued therapy through age 12.
By watching her mom, Sadie learned how to use her feet for writing and other tasks, although she prefers using her hands for drawing and writing.
Their feet are like another pair of hands — a tool to open a kitchen cabinet or steer a vehicle, for example. Scocca said the only limitation on her driver's license is a requirement to drive a vehicle with automatic transmission.
“When you see how incredibly independent the two of them are in their daily life, it's very inspiring,” Schulman said.
Sadie excels in fourth grade at Mount Sinai Elementary School with a protective friend group and supportive teachers, her family said. Her days and nights are filled with activities: Irish step dancing, cheerleading and art camps. Art and music are her favorites.
“It makes me really happy to see that even though I’m different, I could still do things that other people can do as well,” Sadie said.
Kevin Walsh, Sadie's fourth grade teacher, said she “blends right in” to the classroom and requires minimal accommodation besides an ergonomic desk so she can more easily write while standing.
To get the teacher's attention, she raises a ruler in lieu of traditional handraising, Walsh said. He described Sadie as “highly motivated and enthusiastic” with a “fun-loving spirit about her.”
On a recent weekday during school break, Sadie showed off her latest artwork and demonstrated how she draws. She grips a pencil between the fingers of her left hand, leans her head over and at times uses her mouth to help stabilize the hand.
She’s particularly interested in drawing dragons lately. “They’re mysterious and magical,” she said.
In her bright pink bedroom, where her bed overflows with her favorite toy — Squishmallows — her Irish step dancing medals hang on a wall. All first place, except for one second place, she proudly noted.
A poster hangs on her bedroom door from her successful run for student council this year. In one picture, Sadie is kneeling on a surfboard.
Sadie learns from her mother not just the physical skills of living with a limb difference, but the mental makeup required to deal with occasional stares and questions.
Scocca said she knows it’ll never go away and understands most people likely have never seen someone quite like them. She prefers someone ask a respectful question than awkwardly stare or whisper.
Sadie said she sometimes feels uncomfortable.
“Like what do I say? What do I do? How do I react? But seeing how [my mom] reacts to it has made me more comfortable,” she said.
The protective instincts of a mother have forced Scocca to become more comfortable with herself, knowing she needs to portray confidence for her daughter.
“I think having her has made me stronger,” she said.
Scocca’s goal now is to help her daughter become independent. Albert Scocca said he could envision his granddaughter becoming an architect.
Reflecting on the initial shock of learning her daughter would be born with a limb difference, Scocca said it'd be hard to imagine her daughter any other way now.
Scocca said Sadie inspires her in how she opens herself to new challenges, like playing violin. As a young student, Scocca sang in chorus, never imagining she could play an instrument.
"I don't think I was that brave and bold," she said.
Seated high in a rolling chair in an upstairs room of her Mount Sinai home, Sadie McGill extends her left leg and grasps a violin bow between her big toe and index toe. A custom-built wooden stand holds a violin near the floor below her.
The 10-year-old glides the bow back and forth with her left foot as the toes of her opposite foot press the instrument’s strings, bringing “Twinkle, Twinkle, Little Star” to life.
“It’s kind of like a finger in a way pushing [strings] down, but it’s actually my toe,” she said.
For Sadie, learning to play violin is just one of life’s challenges. Born with a rare genetic disorder that causes upper-limb defects and heart malformations, she navigates each day without full-length arms, making it difficult to perform tasks such as zippering a pair of jeans. But she hasn’t had to look far to learn how to overcome everyday obstacles. Her mother, Stasia Scocca, 44, who has lived all her life with the same disorder, known as Holt-Oram Syndrome or heart-hand syndrome, is her steady companion and guide.
WHAT TO KNOW
- A Mount Sinai mother, Stasia Scocca, and her daughter, Sadie McGill, have a rare genetic disorder called Holt-Oram Syndrome, which causes upper-limb and heart defects.
- Scocca never knew what caused her limb difference until after her daughter was born.
- Sadie learned how to adapt without the use of full-length arms by watching her mother.
“I think we’re very close because of the fact that we share this,” Scocca said recently as they look forward to celebrating Mother’s Day with family.
Sadie and her mom both have three fingers on each hand. Their arms have no forearm or elbow. While Sadie has range of movement in both arms and hands, her mother is mostly limited to using her right hand.
From ordinary tasks such as getting dressed each morning to more complex maneuvers like driving a car — a Subaru for mom, and Power Wheels or toy remote control cars for daughter — they adapt to finding solutions that allow them to thrive.
And they do it together.
“I don't ever want her to feel she can't do anything,” Scocca said.
Both Stasia Scocca and her daughter, Sadie McGill, were born with a rare genetic disorder known as Holt-Oram Syndrome. Credit: Newsday/Alejandra Villa Loarca
A rare genetic disorder
Holt-Oram Syndrome affects approximately 1 in 100,000 people in the United States, according to Dr. Jake Kleinmahon, a pediatric cardiologist at Cohen Children’s Medical Center.
Most cases are the result of a mutation in the TBX5 gene, and about 75% of people with the disorder suffer congenital heart disease in addition to limb abnormalities, Kleinmahon said. The common heart defect is a hole in the upper or lower chamber of the heart that can cause heart disease. Some patients rely on medication while others need surgery. Sadie had open-heart surgery at 6 months old, while her mom did not require surgery.
The type of limb abnormality can vary as well, from the number of fingers that form to the length of the arm.
Kleinmahon estimated the hospital sees one or two cases a year. There’s a 50% chance of passing the gene on to offspring.
The syndrome is named after Mary Holt and Samuel Oram, doctors who first described the disorder in 1960 as they researched a family of four generations with congenital cardiac disease, in addition to skeletal anomalies, according to research published in the National Library of Medicine.
Symptoms can often overlap with other rare disorders, making diagnosis more challenging, according to the National Organization for Rare Disorders.
Recent advances in genetic testing allow doctors to more precisely identify such disorders, Kleinmahon said.
Robert Schulman, a certified prosthetist and executive director of Limb Kind Foundation, met the mother and daughter when they participated in the organization's Adaptive Runway Event in 2023. The Long Island-based nonprofit assists amputees across the world.
He said it's a “unique situation” when a genetic mutation causes a person's limb loss or limb difference, based on the people he has met; he added he hasn't seen many other examples of a mother and daughter with exact limb difference.
Stasia Scocca's goal is to help her daughter become independent. Credit: Newsday/Alejandra Villa Loarca
'No reason why this happened'
Scocca first heard the term Holt-Oram Syndrome when she was 35. To this day, she hasn’t met any other Long Islanders with the disorder.
When Scocca was born at Long Island Jewish Medical Center, the medical staff in the delivery room rushed the newborn out, her parents said.
“We have no rhyme or reason why this happened to Stasia,” said her father, Albert Scocca, of Sound Beach.
His wife, Nancy Scocca, said no geneticist she saw detected Holt-Oram when they brought Stasia for testing.
The parents took their daughter to occupational and physical therapists to help with her development. They scoffed when educators suggested she should be in a classroom with mentally disabled children.
“Everything that we needed to do with Stasia back then when she was a child was a battle,” Albert Scocca said.
They moved from Queens to Sound Beach in search of better schooling and found a home in the Rocky Point school district, where she attended regular classes in a supportive environment. At one point, she said, the school raised funds to purchase a desktop computer for her to use at home so she didn't have to write by hand.
Scocca graduated Rocky Point High School, where she met George McGill. The high school sweethearts later married.
"It makes me really happy to see that even though I'm different, I could still do things that other people can do as well," Sadie said. Credit: Newsday/Alejandra Villa Loarca
'I didn’t want her to struggle'
Scocca, who works at Brookhaven National Laboratory in the quality management office, met with a geneticist after she got married, hoping to understand any potential risk. But no clues emerged.
In July 2013, Scocca learned she was pregnant. She wondered if there was a chance her child could be born with the same genetic anomaly.
About two months later, during an ultrasound exam, she realized something was amiss when the technician left the room and sought the doctor. Scocca called her husband through tears to share the news that their child also would have a limb abnormality.
“I didn’t want her to struggle,” she remembers thinking.
The news didn’t hit McGill as hard. He believed his wife could do anything, and he expected his child would be able to do the same.
“I just knew she would have the best teacher,” said the father, a building automation controls technician.
At the time, they didn’t understand the full ramifications of Sadie’s condition. A pediatric cardiologist uncovered a heart issue shortly after Sadie was born. It wasn’t until a few months later, Scocca said, that they realized the severity.
Sadie was born with an atrial septal defect, or a hole in the upper chamber of the heart. The bigger concern, her mom said, was the pulmonary vein going into the wrong chamber of the heart.
Sadie's heart has been healthy since surgery in 2014, her mom said.
Scocca's own childhood heart defect, by comparison, was minor. The ventricular septal defect, or hole in the wall that separates the two lower chambers of the heart, closed on its own, she said.
Just like her mom years earlier, Sadie needed occupational and physical therapy. She couldn’t crawl but scooted on her butt, as her mom had done. She learned to use her toes and fingers in different ways.
Sadie's mother took her to a pediatric geneticist shortly after she was born. Her daughter's heart issue signaled “a light bulb" for the geneticist, who suspected Holt-Oram Syndrome — a term she had never before heard. A blood test later confirmed the disorder in Sadie.
“I'm 35 years old and I just found out the name for my disability I've had my entire life," she said, reflecting back on that moment.
For Scocca, becoming a mother was “very overwhelming” and “nerve-wracking.” The family modified her crib and built a French door-style opening so she didn’t have to reach down to scoop her baby. Her husband constructed a transportation device out of a furniture dolly that his wife could use to pull their baby from one room to another. They extended the handles on a stroller so she could push it.
“It was just kind of being creative and trying things out,” Scocca said.
Sadie teaches her mom Irish step dance moves at their home. Credit: Newsday/Alejandra Villa Loarca
Reaching milestones
Ten years later, Scocca marvels at how her daughter’s development has allowed her to reach milestones faster than she did.
Between kindergarten and first grade, Sadie aged out of occupational therapy. The therapist told Scocca she had done all she could for Sadie. Her mom was now the best instructor.
Scocca, by comparison, continued therapy through age 12.
By watching her mom, Sadie learned how to use her feet for writing and other tasks, although she prefers using her hands for drawing and writing.
Their feet are like another pair of hands — a tool to open a kitchen cabinet or steer a vehicle, for example. Scocca said the only limitation on her driver's license is a requirement to drive a vehicle with automatic transmission.
“When you see how incredibly independent the two of them are in their daily life, it's very inspiring,” Schulman said.
Sadie excels in fourth grade at Mount Sinai Elementary School with a protective friend group and supportive teachers, her family said. Her days and nights are filled with activities: Irish step dancing, cheerleading and art camps. Art and music are her favorites.
“It makes me really happy to see that even though I’m different, I could still do things that other people can do as well,” Sadie said.
Kevin Walsh, Sadie's fourth grade teacher, said she “blends right in” to the classroom and requires minimal accommodation besides an ergonomic desk so she can more easily write while standing.
To get the teacher's attention, she raises a ruler in lieu of traditional handraising, Walsh said. He described Sadie as “highly motivated and enthusiastic” with a “fun-loving spirit about her.”
On a recent weekday during school break, Sadie showed off her latest artwork and demonstrated how she draws. She grips a pencil between the fingers of her left hand, leans her head over and at times uses her mouth to help stabilize the hand.
She’s particularly interested in drawing dragons lately. “They’re mysterious and magical,” she said.
In her bright pink bedroom, where her bed overflows with her favorite toy — Squishmallows — her Irish step dancing medals hang on a wall. All first place, except for one second place, she proudly noted.
A poster hangs on her bedroom door from her successful run for student council this year. In one picture, Sadie is kneeling on a surfboard.
“I think having her has made me stronger,” Stasia Scocca said. Credit: Newsday/Alejandra Villa Loarca
Path to independence
Sadie learns from her mother not just the physical skills of living with a limb difference, but the mental makeup required to deal with occasional stares and questions.
Scocca said she knows it’ll never go away and understands most people likely have never seen someone quite like them. She prefers someone ask a respectful question than awkwardly stare or whisper.
Sadie said she sometimes feels uncomfortable.
“Like what do I say? What do I do? How do I react? But seeing how [my mom] reacts to it has made me more comfortable,” she said.
The protective instincts of a mother have forced Scocca to become more comfortable with herself, knowing she needs to portray confidence for her daughter.
“I think having her has made me stronger,” she said.
Scocca’s goal now is to help her daughter become independent. Albert Scocca said he could envision his granddaughter becoming an architect.
Reflecting on the initial shock of learning her daughter would be born with a limb difference, Scocca said it'd be hard to imagine her daughter any other way now.
Scocca said Sadie inspires her in how she opens herself to new challenges, like playing violin. As a young student, Scocca sang in chorus, never imagining she could play an instrument.
"I don't think I was that brave and bold," she said.
Joe Werkmeister covers the towns of Southampton, East Hampton and Shelter Island. He is a graduate of St. Bonaventure University and previously worked as the editor of two North Fork community newspapers.
More rain for LI ... Thanksgiving travel ... Penny trial continues ... FeedMe: Holiday pies
More rain for LI ... Thanksgiving travel ... Penny trial continues ... FeedMe: Holiday pies