OI

Nonetheless, at the creation of the bone, as it’s made and remade through a remodeling process, it’s made differently and less strong than typical bone.

… but every day it gets a little bit stronger 💪🏼

What is Osteogenesis Imperfecta

Osteogenesis Imperfecta, commonly referred to as OI, is a rare genetic condition that is characterized by fragile bones that break easily.

Due to a genetic mutation in the collagen gene, OI affects connective tissue in the body.

Some cases of OI are hereditary, and in others, OI is the result of a rare, spontaneous mutation. In Niko’s case, it was a random mutation, which means that he is the first in our family to carry the new gene.

OI is a spectrum condition and ranges from mild to severe.

Excellent OI Care + A Positive Prognosis Conversation

If I could express anything to both medical professionals and those who receive an OI diagnosis, it is this:

Seek out specialty care and consult.

Many medical providers, genetic counselors, pediatricians, endocrinologists and orthopedic surgeons, have very limited experience with OI.

This includes but is not limited to:

• Prenatal counseling for an in-utero diagnosis of OI- with or without genetic testing to confirm a diagnosis
• Prenatal Care
• Prenatal conversation which includes a plan for supporting growth and development of baby after birth
• Birth and Delivery Options
• VAGINAL vs CESAREAN as it relates to fracture risk – Read research here
• Informed Consent
• Post Natal Care for Mother + Baby
• Neonate Care in a Nicu setting
• Bisphosphonate Treatment in the Nicu
• An IV treatment protocol
• Discussing genetic test results as they relate to the “Type of OI” and an on-going care plan.
• Early Intervention Services
• Fracture Care
• Pain Management Care
• Physical Therapy + Occupational Therapy
• Feeding
• Weight + Growth Management
• Rodding Placement Surgery
• Rodding Correction Surgery

I would also highly recommend medical professionals to encourage conversations with other OI families.

I would highly recommend families connect with other OI families through social media and online groups recommended by The OI Foundation.

My experience is in OI prenatal diagnosis, and there is a huge gap in our system between a perceived negative prognosis of OI and the actual possible and sometimes probable positive prognosis of a child born with OI.

A child born with or diagnosed with OI needs a game plan. It’s POSSIBLE, critical and at this point, absolutely required.

For more information on OI, specialists, resources and support, visit http://www.oif.org