Ethan is a talkative daredevil who likes Minecraft, worms, superheroes and his friends.
At five years old, he’s living a life his parents always dreamed of but doctors had told them would never happen.
“We were told it was terminal,” said Dr. Neel Desai, “but he’s five years old and in kindergarten.” The “it” was the diagnosis of Osteogenesis Imperfecta (O.I), commonly known as “brittle bone disease.”
Desai and his wife Debbie learned from an ultrasound 20 weeks into her pregnancy that the length of the bones in the baby’s arms and legs showed signs of O.I.
After a series of tests, O.I. was confirmed. The couple was told the baby’s bones would fracture easily with minimal or no trauma because of the genetic disease which interferes with the production of collagen.
“The first doctor we saw said it was incompatible to life because (the bones) would compress his lungs and he wouldn’t be able to breath,” said Desai.
The couple got a second opinion; developed a treatment plan and moved ahead with Ethan’s life.
He did suffer seven or eight fractures during the emergency C-section, and medication to strengthen his bones was started when he was three days old.
It worked. His bones got stronger and the density improved.
“We’re pretty lucky. He walks, he runs, he jumps … he’s a pretty active five-year-old.”
It hasn’t been without effort, a lot of effort. Ethan has expanding stainless steel rods in his legs that accommodate his growth. He learned to walk with a walker at 14 months; at two, he was running.
The doctor’s message: “There is a lot of hope out there.”
In an average practice, a doctor may see only a few patients with rare conditions. So, it’s important to seek out the experts and foundations like the one Desai founded to share “collective wisdom and collective experiences.” The doctor is clear — he is not talking about experimental treatments but treatments backed up with experience.
“Things are different now. There are a lot of things you can do. It’s a different world,” Desai said.
Click here for more information and to learn how you can make a difference.
