When Fiona was just five years old, a game of shadow puppets with her mom and twin sister revealed something unusual: not all her fingers matched. Her mother, Sandra, noticed that as Fiona held her hands against a flashlight beam, some fingers appeared much shorter than others. What began as a curious discovery soon evolved into years of discomfort, disrupted activities, and eventually, a life-changing surgical journey here at Children’s Hospital of Philadelphia (CHOP).

Losing a grip on everyday tasks

Over the years, as her hands grew, some of her fingers remained the same length as before. Then Fiona began to experience pain in both of her hands that gradually worsened. At six, she shattered the knuckle in her left middle finger while doing a handstand at camp because her shorter ring finger didn’t provide proper support. By the time she was seven, everyday activities like tying her shoes, brushing her hair and zipping her coat had become painful. Fun activities she enjoyed like softball, monkey bars and archery began to slip out of reach.

“I’m a Junior Olympic Division archer, and one day hope to go to the Olympics,” Fiona says. “But my fingers became so painful that I could barely pull 18 pounds on my bow, down from 52. One class, I dropped to my knees and cried – it hurt so much. That’s when my mom and I knew I had to stop.”

A rare and confusing diagnosis

Sandra went to work seeking a diagnosis and treatment that would help Fiona. At first, doctors near their Summit, NJ, hometown suspected pseudohypoparathyroidism, a frightening and complex diagnosis. Fiona underwent advanced genetic testing and was eventually diagnosed with a rare condition, brachymetacarpia, where one or more of the metacarpal bones in the hand are shorter than they should be. This condition only affects a small percentage of the population, and in Fiona’s case, it was both painful and progressive. The good news for the family was that this detailed testing also ruled out other endocrine or genetic diseases that can sometimes accompany brachymetacarpia. 

Now they knew what they were dealing with; but because brachymetacarpia is so rare, the family struggled to find answers about how to treat it. Sandra spent countless hours researching online and consulting local orthopedists. One doctor told her the surgery was too complex. Another offered to perform it, but the family didn’t feel confident about the answers they were receiving to their questions. That’s when they found Apurva S. Shah, MD, MBA, a pediatric surgeon in CHOP’s Hand and Arm Disorders Program, specializing in pediatric hand and upper extremity surgery.

“We knew instantly we were in the right place,” Sandra says. “Dr. Shah knew the condition inside and out. The entire team treated us with such compassion and confidence.”

Long-awaited hand surgery and an intense recovery

Fiona would need surgery to lengthen her affected fingers, but it was important to wait until her hands were mostly finished growing. She was around seven years old when she first consulted with Dr. Shah. In the meantime, Sandra helped manage Fiona’s pain with over-the-counter medicine, icing and regularly resting her hands until she could have surgery. 

Fiona had her first surgery at age 13. Then, over the course of a year, she had five total surgeries to lengthen her left ring finger and right middle finger using external fixators – devices that connect to the bone using pins and wires. After the fourth lengthening surgery, she underwent an additional procedure to correct a tendon and relocate a nerve. The entire process was challenging both physically and emotionally.

“The first week after surgery and the last few days of turning the fixator were the most difficult and painful. I coped the best I could. I took my medication, iced it when possible and rested. I admit I felt sad and cried a lot. It was really hard.” Fiona recalls. “It also helped me to know that my Gramma and all our friends were praying for me every day.” She found listening to music, talking with her mom and doing digital art helped distract her from the pain. 

Sandra had her own challenges: managing the fixator, helping with wound care and watching her daughter endure pain. She says, “There’s nothing harder than watching your child suffer and not being able to make it stop.” 

As part of her recovery, Fiona’s CHOP care team provided a design for a custom splint that would work specifically for her hands. And they worked together on a therapy plan with a local occupational therapy team closer to Fiona’s home in New Jersey. This helped to lift the burden of travel on Fiona and her family as she healed. The operations on both hands were a success.

Returning to music and play without pain

Now 14, Fiona is back to doing the things she loves. One of the first things she returned to was music. She’d played piano and French horn before surgery, until the weight of the instruments became unbearable, forcing her to stop practicing. But she never gave up entirely.

As soon as she could, Fiona auditioned for the Central Jersey Music Educators’ Association (CJMEA) Middle School Honors Band. She was nervous given the strong competition among her fellow musicians and that she hadn’t played in a year. She didn’t expect to be selected, but she was. And more importantly, she was able to play pain free. 

She’s excited to return to the archery range this spring and reconnect with her coach and friends. “There are no limits to what I can do with my new hands,” she says. “I’m so proud of myself.”

She’s also looking forward to helping others. If another teen with the same condition were facing surgery, she’d tell them: “Surround yourself with people who love and care for you. The journey is hard, but you’re stronger than you think. You can do it.”

How kindness at CHOP made a difference

Sandra says she’ll never forget the support they received at CHOP. Dr. Shah, his team and all the CHOP staff they encountered made the experience more bearable.

“There was the technician who made Fiona laugh with jokes while removing her cast, the anesthesiologist who traded book recommendations, the nurse who made sure I got back to the waiting room with a cup of coffee in hand,” she says. “These moments of kindness were everything.”

Today, Fiona remains part of a CHOP research study on brachymetacarpia, contributing to a future where other families may have more answers, more hope, and thanks to Fiona’s strength, a little more inspiration.