Osteogenesis Imperfecta: The Diagnosis

Posted by Vicky Martin on 5th May 2017 Additional Needs, Advice & Support, Disabilities

There wasn’t much else to our “baby blob” at that point, as he was just six weeks gestation.

We were elated; what a Christmas gift, our first child was growing.

Fast forward to Easter, just 14 weeks later, and it was already time for the anatomy scan…and all I was focused on was finding out if it was a boy or a girl.

This was four years ago now, but I can recall the whole experience like it was yesterday…the ultrasound tech clicking away, measuring body parts, stating “normalcy” about certain parts and silent as she went over other parts of our baby’s body…then she went to talk to the doctor.

We had never been through this before so we thought it was all…normal.

We waited for a long time and were then moved to another room.

I was still so excited to find out if we were having a boy or girl that I was oblivious to all the red flags…the doctor came in and sat down.

She cleared her throat and sat in a brief silence, then asked us if dwarfism ran in our family. After a moment, it sunk in why she was asking.

The doctor ran through her findings but my brain fogged in and out…”5th percentile of growth…. limbs are severely bowed….it could be lethal...”

“Lethal.”

We were referred to an office that specialized in high risk pregnancies…they told us they weren’t booking anytime soon when I tried to schedule an appointment but then they called back because they heard from my obstetrician. They fit us in 2 days later.

At that appointment was the first time we heard the two words, the ten syllables that would change our lives. Osteogenesis Imperfecta.

“It’s commonly known as, ‘brittle bone disease’.” Our baby, our son’s, bones were breaking in utero.

The doctor showed us a fracture in one of Isaiah’s femurs (thigh bone) and humerus (upper arm) bones.

He showed us how his tibias (lower leg bones) were curved into acute angles and how when he used pressure on the area where Isaiah’s head was, his head would change shape very easily.

Thankfully we had an amazing support system in our friends and family and in the Osteogenesis Imperfecta community online.

It was in support groups that I saw pictures and videos of kids who received the same/similar grim diagnoses as our son and they were defying what OI is known for…so many were walking, running, dancing, playing sports!

So many were smiling, happy, amazing souls.

The rest of our pregnancy was a roller coaster. Sometimes we’d receive difficult news and other times we were offered glimmers of hope.

Isaiah was born via c-section due to his breech position. He was born with over a dozen fresh fractures.

Due to that and other signs (blue sclera instead of white, triangular face), he was officially clinically diagnosed with Osteogenesis Imperfecta type 3, the most severe form you can live with, and then the diagnosis was genetically confirmed a few weeks later thanks to cord blood testing.

Isaiah’s first few months were challenging.

Osteogenesis Imperfecta is more than bones that break easily. It’s a collagen disorder and collagen is in every part of the body.

Isaiah went into respiratory failure at one month old. He needed a feeding tube until five months.