Niko’s Story

Our son and fourth child, Nicola Gian, was born fragile but strong. Read the full story here.

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Niko was born with a rare genetic condition called Osteogenesis Imperfecta (OI). It is characterized by bones that break easily, due to a mutation in one of Niko’s collagen genes. Collagen is used to make strong, sturdy bones, and is also found in muscles and connective tissue.

OI in Niko’s case was due to a spontaneous, random mutation, which means it is not hereditary and was not passed down to him. He is the first in our family to have OI, so in his case, it’s brand, spanking new. Niko has a 50% chance of passing his OI gene to his offspring, but our other children, and other people in our family, do not have an increased chance of having children with OI. Random changes can occur during conception and/or pregnancy, just like in life, and in this case, there is no research to know how or why it happened…. thus, it’s random and spontaneous.

Sometimes children are born healthy and start to fracture after they are born. In Niko’s case, we learned during my pregnancy that he had OI. At my 20-week anatomy scan, we learned that his femurs were “shortened and curved.”

In fact…. the title of this blog post and everything I write about my pregnancy should just be called shortened and curved femurs. I’ll tell you why…. because I must have searched this term a hundred times for a hundred days….

For the rest of my pregnancy, we were un-certain about whether Niko would survive birth. Our doctors did not do much research on present OI cases. Niko was showing some clinical signs of severe OI, but he wasn’t showing the signs of lethal (deadly) OI. Having never seen a baby like Niko, they were not sure what was going on and what a reasonable outcome would be.

Shortened and curved femurs could be a number of genetic conditions, like Dwarfism, Down Syndrome, or any other lethal or non lethal skeletal dysplasia. During follow up ultrasounds, it was discovered that Niko had a soft calvarium, a textbook marker for OI, as well as long bones that were falling further off of the growth chart, and some of them showed sharp angulation…. although it’s hard to say just by looking at ultrasound, the curved and shortened limbs are due to fracturing.

Clinically, his condition was highly suggestive of OI, but could not be definitely diagnosed through ultrasound alone.

At 29 weeks pregnant, I had an amnio done and at 34 weeks, an OI diagnosis was confirmed.

We were left us with a lot of fear and uncertainty about what would happen, along with a lot of hope and optimism that our son would be born alive and that he would defy all expectations.

Niko was born full term with 26 fractures in multiple stages of healing. He was in the NICU for five days and has been a smiling, exuberant, strong, healthy boy ever since.

He receives an infusion of medication every 8 weeks at our local Children’s Hospital and this strengthens his bones as they grow. He will receive this treatment for most of his childhood.

We work with a PT and OT weekly, and Niko is doing new things every week.

He excels developmentally, and so the challenge remains to encourage him as best we can. With two older sisters and an older brother, he is constantly playing, laughing, reaching, moving and excited to do everything.

We are grateful for the blessings he has brought into our lives, and thrilled to ride this adventure with him. There are many fun times and some times that are very hard… but this is a beautiful life, filled with so many beautiful people I have come to know, trust, appreciate and love. Thank you God for continuing to light our path, as we know and trust that you are already there.

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