Baby With Brittle Bone Disease Continues to Defy Doctors’ Diagnosis: ‘He Is Broken and Breaking’

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At midday on Sept. 12, 2018, Cheyenne Potts and her husband Michael’s lives were turned upside down. The parents-to-be were informed by doctors that their baby son Leo, not yet born, was “broken and breaking” in the womb.

Leo was diagnosed with brittle bone disease and was not expected to live. The family spiraled into despair, but the decisions they would make in the minutes, hours, days, and weeks to come would change everything.

Leo’s grandmother shared the family’s emotional journey with Love What Matters.

“The world stopped for our family,” she wrote. “News that knocked the breath out of us. This child, already so incredibly loved and wanted. Something was wrong, something life altering.

“Our little man, Leo, has a disease called osteogenesis imperfecta; brittle bone disease,” she explained. “‘He is broken and breaking,‘ say the doctors. ’Type 2,' they tell his parents. No hope. Always fatal.”

Osteogenesis imperfecta (OI), commonly referred to as brittle bone disease, is a genetic disorder characterized by a bone collagen deficiency, meaning that the patient’s bones are prone to breaking easily without a specified cause.

According to Stanford Children’s Health, it is estimated that 20,000 to 50,000 people suffer from this disease in the United States alone. The disease can affect people of any gender and racial heritage.

While symptoms may vary, patients with type 2 OI are likely to suffer from severe bone deformity, bone fractures, a short stature, a small chest, and underdeveloped lungs. Type 2 is the most severe form of OI and is usually fatal, although there are some known patients who have reached adulthood.

Facing the Hardest Decision of Their Lives

Cheyenne and Michael were advised that it would be “kinder to terminate” their baby. At first, the heartbroken couple considered their doctor’s advice, even going so far as to begin planning baby Leo’s funeral.

“There is no way to convey what we as a family felt that day and in the days that followed,” Leo’s grandmother continued. “Seeing the strength that Leo’s mommy and daddy had, and still have, leaves me in awe of them.”

Within a week, and after hours of heartfelt contemplation, the Potts family had changed their minds. “We decided to do our best to plan as though the doctors were wrong,” Grandma explained, “[and] talk amongst ourselves about what life with Leo might be like.”

The Potts family spent the next four months looking to the future, but then Christmas came around and the reality of baby Leo’s imminent birth hit home.

Just two weeks before Leo was born, his grandmother regaled, Cheyenne and Michael made sure to take as many pictures as they could with family, friends, and loved ones, wondering between themselves whether this would be Leo’s one and only Christmas.

Welcoming Baby Leo

Leo was born on Jan. 11, 2019, at 11.10 a.m. weighing 5 pounds, 11 ounces (approx. 3 kg). “Leo Alexander came into this world crying, alive, and doing it on his own,” his grandmother wrote. “The doctors were wrong! Was he perfect? No, he was perfectly imperfect, and he was here. Alive, and a fighter.”

Leo spent 19 days in the NICU of the Vanderbilt Children’s Hospital in Nashville, Tennessee. He was moved to Stallman NICU for six days, then the Children’s NICU for a further eight days.

“There were many scary moments while he was there,” Leo’s grandmother continued, “but ultimately Leo overcame each and every one of them. And came home in less than 3 weeks!”

“Leo has had a lot of ups and downs in the past 6 months,” she wrote, reflecting on the baby boy’s continuing battle in the summer of 2019. “Life with Leo is like a rollercoaster of the highest highs and the lowest lows,” she said. “But those highs are more than worth it, and we are grateful for every second of every day.”

Leo Goes From Strength to Strength

Osteogenesis imperfecta is a progressive condition that requires lifelong management in order to prevent permanent deformities and health complications.

As of 2019, there is no known treatment or surgery that can cure OI, but doctors often advocate that patients use physiotherapy, assistive devices such as braces or wheelchairs, a healthy diet and exercise, and psychological counseling to ensure the best possible quality of life.

Having already beaten the odds, Leo continues to defy the doctors’ predictions. His mother, Cheyenne, posts regular photo updates of her “little stinker” on Facebook for family and friends to enjoy.

“My little stinker,” she captioned one happy snapshot. “He has the most personality packed into such a tiny boy!”

Describing her grandson as an “amazingly happy spirit,” Leo’s grandmother was unable to pinpoint one singular moment in Leo’s life that stands out so far.

“Leo’s entire life stands out,” she said. “We see him touch and inspire people everywhere he goes. His family, most of all.”