One in a million: Rare condition reveals a “perfect” little boy

Patient Stories |



Bastien Sapp was just 1 when his leg was amputated at the knee due to a severe bone deformity. Thanks to his Riley ortho team, he is thriving.

By Maureen Gilmer, IU Health senior writer,

Tracy Martinez wishes she could have told her then-36-year-old self it was all going to be OK.

Better than OK, actually.

Martinez, already the mother of a teenager, found out she was pregnant late in 2020. A big surprise, she said.

“I wasn’t trying to get pregnant, but obviously he came into our lives for a reason.”

“He” is 2-year-old Bastien Sapp, a cheerful bundle of energy who has become quite familiar with Riley Children’s Health.

Martinez had planned to travel the world as soon as her teenager graduated from high school, she said. Her dream was to go to Egypt.

Her pregnancy changed all that.

When an ultrasound later revealed serious issues with her unborn baby, the single mom was overwhelmed until the team at Riley eased her concerns.

Tetralogy of Fallot (a combination of heart defects) and tibial hemimelia (a serious bone deformity) were diagnosed prenatally.

“I was shocked,” Martinez said. “I had never heard of either of those conditions. But we adapt and overcome, so we made it happen. He’s been a blessing,” she said as she kissed her little boy.

Bastien was born in May of 2021 at IU Health Methodist Hospital and immediately transferred to Riley Hospital for Children.

At 6 months old, he had open-heart surgery to repair his heart. He continues to see Riley cardiologist Dr. Poonam Puranik.

Tetralogy of Fallot is rare enough, but tibial hemimelia (also known as tibial deficiency) is estimated to occur in just 1 in 1 million live births, according to Dr. Christine Caltoum, division chief of pediatric orthopedic surgery at Riley.

“It’s a very rare disorder,” the surgeon said, adding that it can be associated with other abnormalities or organ issues, but often it is a spontaneous occurrence.

“There can be some genetic component as well,” Dr. Caltoum said. “But in his case, nobody else in the family has it.”

A child with the condition is born with a tibia (shinbone) that is shorter than normal or missing altogether. In less severe cases, multiple reconstruction surgeries over years can correct the problem, but in Bastien’s case, removing a portion of the limb and being fitted with a prosthesis was a better option, Dr. Caltoum said.

It would have been challenging to do reconstruction on Bastien because he had very little tibia to work with, she explained.

Just after Bastien’s first birthday, he underwent surgery to have his right leg amputated at the knee. Martinez created a mold of his little foot to show to her son when he gets older.

A few months later, he was fitted with a prosthesis, a tiny little limb that his mom slips on easily in the lobby of Simon Family Tower at Riley.

And away he goes!

Bastien races around the expansive lobby, stopping only to say hi to another little boy sitting in a Riley wagon. His gait is awkward, only because he can’t bend at the knee yet, but as he grows, his prosthesis will be adapted for him.

“Once he gets taller, he’ll be able to get a knee joint put in and a flexible ankle,” Martinez said.

And he will be less likely to walk with a limp when he gets older.

“When you do an amputation at a young age, they get fitted early on with a prosthesis, not long after they’re learning how to walk, so they really hit their motor milestones almost as normal,” said Dr. Caltoum, who has been seeing Bastien since he was about 2 weeks old.

“He will be able to have a normal childhood without many restrictions,” she added. “He’s really delightful. Just to see him on his last visit when he’s walking around the exam room, it’s wonderful.”

Martinez said her goal at the beginning was to make sure her son received the best care possible.

“I feel like Riley is it. The Riley team is really great. Dr. Caltoum is very hands-on, very nurturing when it comes to him,” Martinez said. “She’s really great with him. He has pretty much grown up here.”

He is a happy little boy who has filled a hole that his mom and dad, Oakley Sapp, didn’t even know was there.

“He has been a great addition to our family,” Martinez said. “He’s really made me whole. And his dad loves him so much. With everything that’s happened, I’ve learned to take what’s been given to me and see the blessing at the end.”

No, this is not the life she envisioned just a few years ago, she said.

“It’s better. Who needs a camel in Egypt when you’ve got this perfect little guy?”

The Riley Children’s Health pediatric orthopedics team is ranked among the best in the nation by U.S. News & World Report.

Photos submitted and by Mike Dickbernd, IU Health visual journalist,

Related Doctor

Christine B. Caltoum, MD

Christine B. Caltoum, MD

Pediatric Orthopedic Surgery

related doctor headshot photo

Poonam M. Puranik, MD

Pediatric Cardiology