"When I was young," began Angela "Ela" Pirri, age 9, to smiles from the adults in the room, "I learned to move with the cast. My core is very strong." She was referring to her recovery from one of the many orthopedic procedures she has faced in her young life — more than most adults many times her age.

Ela was born with Radial Ray Duane’s Anomaly, a congenital birth defect caused by mutations in the SALL4 gene. It has a number of potential manifestations, with arm impacts and strabismus being the most common. Thankfully, Ela is not affected by any of the kidney or heart issues that sometimes impact people with this condition.

If it is supposed to slow her down, someone forgot to let Ela in on the secret. This happy and energetic third grade student at Colt Andrews School in Bristol, the daughter of Robert and Julie Pirri of State Street, is a bundle of energy; an enthusiastic soccer player and gymnast (the vault is her favorite apparatus) who is currently gearing up to crown her successor as Little Miss 4th of July, a role she has very much enjoyed over the past year.

As is typical for people born with Radial Ray Duane’s Anomaly, Ela was born without radius bones or thumbs, and her hands are positioned at a near-right angle relative to her forearms. While the impacts to Ela's hands and arms are significant, her remarkable resilience and ability to adapt has minimized the effects on her daily life. She makes her own accommodations, dexterously angling her hands to accomplish whatever task is set before her. Her hands can get fatigued easily, so she routinely uses a keyboard (typing fast!) and sometimes uses voice-to-text software to complete her work. Squeezable objects help Ela build the muscles in her hands and forearms. "Every day life, daily living is occupational therapy," said Julie.

"She's so determined," said Robert. "She won't stop until she figures out how to do whatever she has set her mind to." Robert knows better than anyone what it takes for Ela to overcome her condition — he has it as well. Although the mutated SALL4 gene that causes Radial Ray Duane’s Anomaly is very rare, it still has a 50 percent chance of being passed from parent to child — and only one parent need carry it. In other cases, even more rare, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation, and this is, to the best of Robert's knowledge, how he developed the condition. However, he knew none of this until Ela was diagnosed in utero — growing up, he was told his issues stemmed from his mother's exposure to German Measles during her pregnancy. The majority of doctors he saw concurred.
 
Ela has spent a significant amount of time at Boston Children’s hospital since infancy, when she had thumbs crafted by Dr. Peter Waters, a pediatric orthopedic specialist whom the Pirris credit with Ela's great success. Dr. Waters and his team continue to search for possibilities to continue to improve Ela's motor function, and the Pirris feel extremely fortunate to have access to Dr. Waters and Boston Children's Hospital. "There was no such thing as pediatric orthopedics when I was a kid," said Robert.
 
In an effort to “give back” and ensure other children's lives are positively impacted by Boston Children's Hospital, Ella has paired with a runner in this year’s Boston Marathon to raise money. One of about 160 runners paired with patients in the annual Miles for Miracles effort, Peter Liccardello, a Contract Director with Johnson & Johnson, hails from Carver, Massachusetts and is a veteran marathoner. "He's run around the world!" said Ella, referring to Liccardello's cumulative competitive mileage. Peter has hosted a number of fundraisers and has raised more than $13,000, more than twice the amount requested by BCH of their Miles for Miracles marathoners. For her part, Ela has been selling backpacks to contribute to Peter’s efforts, and has raised over $630.

Marathon monday will find the Pirris in Wellesley, Mass. along the marathon route, cheering Peter on and celebrating their fundraising victory. If you are interested in purchasing a backpack from Ela or making a direct donation to Ela and Peter's efforts, contact Julie at juliepirri@gmail.com.