🦴 Osteo – Bone
💥Genesis – Creation
💔 Imperfecta – Imperfectly

🌟Although it’s made differently than the majority of the population, doesn’t mean it’s imperfect🌟 Maybe Osteogenesis Differently came in second place🥈

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.

This means reaching out to a physician that specializes in OI.

Because a provider has “experience with OI” does NOT make them a specialist.

Please refer to this list: OI Specialists

“Physician Referrals
For information about physicians, dentists, and other medical professionals who have experience with OI, please contact the Information Center at the OI Foundation office.  Call (301) 947-0083 or send an email to bonelink@oif.org.

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.

Please reach out to me if you’d like my personal recommendations or online group suggestions.

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