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Osteogenesis Imperfecta Resource Guide for Parents

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Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare condition that causes fragile bones. Managing a child's OI requires a multidisciplinary medical team. This guide helps parents navigate the diagnosis, build a care team, and advocate for their child's long-term health.

Key Takeaways

  • • Osteogenesis imperfecta (OI) is a rare disease that often requires coordinated care from a dedicated multidisciplinary medical team.
  • • Due to the rarity of OI, many families experience traumatic misdiagnoses or even false accusations of child abuse before finding the true cause of unexplained fractures.
  • • Establishing a clear emergency plan for unexpected fractures outside of normal business hours is a crucial step in managing your child's care.
  • • Connecting with national advocacy groups like the Osteogenesis Imperfecta Foundation can provide vital emotional and practical support for parents.

Welcome to the comprehensive resource guide for parents and guardians of children diagnosed with Osteogenesis Imperfecta (OI), also known as brittle bone disease.

Receiving a rare disease diagnosis can be an incredibly isolating and overwhelming experience [1]. You may have spent weeks or months watching your child suffer unexplained fractures, or perhaps you have faced the profound trauma of being wrongly accused of child abuse before the true medical cause was found [2][3].

This guide is designed to empower you with the medical knowledge, practical tools, and evidence-based information you need to advocate for your child’s care, from infancy through their transition to adulthood. You will find clear explanations of the biology of OI, the standard of care treatments, and actionable advice on building a multidisciplinary medical team.

Please explore the following pages to learn more about navigating your child’s diagnosis:

Frequently Asked Questions

How do I build a medical team for a child with Osteogenesis Imperfecta?
Your child's care should be managed by a multidisciplinary team of specialists. You should ask your primary doctor who will serve as the central coordinator to manage communication between different providers and ensure a unified care plan.
What should I do if my child with OI has a fracture after hours?
It is crucial to have an emergency plan in place before a fracture occurs. Discuss with your medical team the best way to contact the on-call physician outside of regular business hours so you know exactly what to do during an unexpected emergency.
Are there support groups for parents of children with Osteogenesis Imperfecta?
Yes, connecting with other families can be incredibly helpful for managing the emotional and logistical stress. Organizations like the Osteogenesis Imperfecta Foundation offer resources and support networks specifically for parents navigating this rare diagnosis.
How can I cope with the trauma of a brittle bone disease misdiagnosis?
Many parents face traumatic experiences, including false accusations of abuse, before receiving a proper OI diagnosis. Seeking professional mental health support and leaning on your personal support network can help you process this difficult experience.

Questions for Your Doctor

  • • Who will serve as the primary 'quarterback' or architect of my child's multidisciplinary care team?
  • • Are there local support groups or national organizations, like the Osteogenesis Imperfecta Foundation, that you recommend connecting with?
  • • How often should we schedule full comprehensive team evaluations versus individual specialist visits?
  • • What is the best way to contact the on-call physician in the event of an emergency or unexpected fracture outside of business hours?

Questions for You

  • • What are the most urgent questions I need to ask at our next appointment to feel confident in my child's care plan?
  • • Who in my personal support network can help me manage the emotional and logistical stress of navigating this new diagnosis?
  • • Have I taken the time to process my own emotional reaction to this life-altering news, and do I need to seek professional support for myself?

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References

  1. 1

    Osteogenesis Imperfecta and Child Abuse From a Forensic Point of View.

    Altalib A, Althomali A, Alshahrani A, et al.

    Cureus 2021; (13(1)):e12790 doi:10.7759/cureus.12790.

    PMID: 33628660
  2. 2

    Beware of Osteogenesis Imperfecta: Subdural Hematoma in a 10-Year-Old Child With Minor Head Trauma.

    Dinca EB, Carron R

    The Journal of nervous and mental disease 2019; (207(7)):575-576 doi:10.1097/NMD.0000000000001009.

    PMID: 31259792
  3. 3

    What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases.

    Pepin MG, Byers PH

    American journal of medical genetics. Part C, Seminars in medical genetics 2015; (169(4)):307-13 doi:10.1002/ajmg.c.31459.

    PMID: 26566591

This guide provides educational resources to help parents navigate an osteogenesis imperfecta diagnosis. It is for informational purposes only and does not replace professional medical advice or the expertise of your child's care team.

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