Battling an “Orphan” Disease: One Mom’s Story

After 15 years and multiple misdiagnoses, Kelly Amato says her son finally found the right doctor and a medical “home” for his rare bone disorder at Connecticut Children’s.

Families that have a child with a rare disease search endlessly for a doctor willing to take them in – a doctor willing to believe them and care about their suffering. In this “foster care” system of medicine, children can be shuffled around for years and, like every orphan, desperately want a place to belong.

It took 15 years, but our family found our true adoptive doctor in Dr. Emily Germain-Lee, an endocrinologist at Connecticut Children’s Medical Center and director of the Center for Rare Bone Disorders and Osteogenesis Imperfecta Center.

Years of suffering, dead ends

Before finding Dr. Germain-Lee, our son, Simon, was suffering and had been since the day he was born. We had worked with many wonderful doctors over the years, but no one was able to piece together Simon’s myriad symptoms. He spent his childhood in and out of the hospital and being transferred from one doctor to another.

One of our darkest moments came in 2012, when Simon was misdiagnosed with Amplified Pain at a hospital in Pennsylvania. He was put into an in-patient physical therapy program. We thought we had finally found a place that would help him.

But on the morning of his third day, Simon broke his left arm. His pleas for help were dismissed and it wasn’t x-rayed. That afternoon, Simon broke his right arm. The following morning, he was forced to go back down to the gym where he broke both of his legs. He was 12 years old.

The experience was horrifying. We were traumatized and filled with rage. We had thought the answer was just around the corner. It wasn’t. As our son lay in a hospital bed with casts on every limb, we again searched for a doctor that could help him. The Mayo Clinic had a two-year waiting list. The doctors we were able to see, were eager to diagnose him until their theories didn’t pan out…We were certain each doctor would find what was wrong, only to be told at the follow-up appointment six months later, they could not confirm a diagnosis. Instead, he or she would imply we were crazy or overprotective, or both, while dismissing the undeniable evidence in Simon’s medical record. The parents of children with rare diseases are often told they’re crazy and overprotective, that they have Munchausen’s by proxy, that their children are liars, or that they have a conversion disorder.

At the mercy of these doctors, we were brought to our knees. A sense of hopelessness filled us with deep despair. This is what it feels like to be an orphan of medicine.

We knew right away, she was different

We didn’t give up. We dragged Simon in a wheelchair all over the country, to doctors everywhere. Each new disappointment left us devastated and speechless. Coming to Connecticut Children’s saved us from this endless cycle. When Dr. Germain-Lee walked into Simon’s exam room, we knew right away she was different. We were skeptical, after so many years of being dismissed, but we placed our hope in her kind hands. She began treatments for Simon immediately. We watched our son improve month after month. We were able to do things as a family, like eating dinner together and watching TV. That may seem like a small thing, but for us it was monumental.

Simon is now 18. We travel from New Jersey to Connecticut Children’s Medical Center every 10 weeks for treatment that has changed our lives and saved us from despair.

An ally in the fight against rare diseases

Children without parents can go for years being bounced from one foster home to another, often enduring physical and mental abuse along the way. Some will be lucky and find a gem – a parent, or doctor in our case, who believes in them and will shelter them from harm.

As rare as rare diseases are, it’s even rarer to find a doctor who is willing to invest the energy needed to investigate, research and care for rare disease patients. Physicians like Dr. Germain-Lee have the ability to offer hope and stability to rare disease patients and their families. As awareness grows, we hope that more families can find the comfort and safety that we have at the centers for Rare Bone Disorders and Osteogenesis Imperfecta at Connecticut Children’s Medical Center.

Learn more about how Connecticut Children’s is researching and fighting rare diseases