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Living with OI: Preparing Your Child for Adulthood

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As individuals with Osteogenesis Imperfecta (OI) transition to adulthood, fracture rates often decrease, but systemic issues like hearing loss, restrictive lung disease, and chronic pain require active management. Establishing an Adult Medical Home and routine screening schedule is essential.

Key Takeaways

  • • While bone fractures may decrease in adulthood, systemic complications like hearing loss, respiratory issues, and heart valve problems often emerge.
  • • Chronic pain and fatigue are among the most significant daily challenges for adults living with Osteogenesis Imperfecta.
  • • Routine adult monitoring should include periodic DEXA scans, audiometry, echocardiograms, and pulmonary function tests.
  • • Women with OI can have successful pregnancies but require high-risk obstetrical care and often deliver via Cesarean section.
  • • Creating a comprehensive medical resume and finding a primary care physician to serve as an Adult Medical Home are crucial steps for transitioning out of pediatric care.

As your child moves into adulthood with Osteogenesis Imperfecta (OI), their health goals will often shift. While the high frequency of fractures seen in childhood often decreases after puberty (especially in Type I), adulthood brings a new set of “extra-skeletal” challenges—symptoms that occur outside of the bones [1][2].

Because OI is a systemic disorder of collagen, long-term monitoring is essential to maintain their quality of life and independence as they age [3][4].

Extra-Skeletal Complications in Adulthood

Collagen is a building block for many organs, not just bone. Over time, the effects of “brittle” collagen can manifest in several key areas:

  • Hearing Loss: This is one of the most common adult complications, affecting 30% to 50% of adults with OI [5][6]. It is often progressive and usually begins in the 20s or 30s as the small bones in the middle ear become less effective at conducting sound [7][6].
  • Respiratory Health: For those with severe OI or significant scoliosis (curvature of the spine), the lungs may have less room to expand. This is known as restrictive lung disease and is a leading health concern for adults with OI [8][2].
  • Cardiovascular Issues: The heart valves and the aorta (the body’s main artery) are rich in collagen. Some adults may develop “leaky” valves (valvular regurgitation) or a widening of the aortic root, which requires regular monitoring [9][10].
  • Vision and Teeth: Thinner-than-normal corneas and the continuation of Dentinogenesis Imperfecta (brittle teeth) may require ongoing care from specialized ophthalmologists and dentists [5][11].

Managing “Invisible” Symptoms: Pain and Fatigue

Chronic pain and fatigue are frequently cited by adults with OI as their most significant daily challenges [2][12].

  • Chronic Pain: This often stems from old fractures, joint hypermobility (loose joints), or early-onset osteoarthritis [12].
  • Fatigue: The extra energy required to move a body with skeletal deformities, combined with the “invisible” strain of chronic pain, can lead to significant physical and mental exhaustion [2].
  • Mental Health: Navigating a rare disease and the transition from pediatric to adult care can be taxing. Preserving mental health and social functioning is a critical part of adult wellness [4][2].

Recommended Adult Monitoring Schedule

While there is no “one-size-fits-all” schedule, specialized centers often recommend the following baseline and periodic screenings for adults [13][8]:

Test Purpose Frequency
DEXA Scan Monitors bone mineral density (BMD) [13] Every 1–3 years (varies by treatment)
Audiometry Checks for progressive hearing loss [14] Every 2–5 years (or if changes occur)
Echocardiogram Checks heart valve and aortic health [9] Every 2–5 years
PFTs Pulmonary Function Tests for lung capacity [8] If scoliosis is present or symptoms develop

Pregnancy and Reproductive Health

If your child chooses to start a family in the future, it is important to know that women with OI can and do have successful pregnancies, but they are considered high-risk [15][16].

  • Fracture Risk: The added weight and hormonal changes of pregnancy can increase the risk of vertebral (spine) compression fractures [17].
  • Delivery Mode: While many women with OI have successful vaginal deliveries, Cesarean sections are more common, especially if there is a risk of “cephalopelvic disproportion” (the baby’s head being larger than the mother’s pelvis) [15][18].
  • Genetics: Because most OI is autosomal dominant, there is a 50% chance of passing the condition to a child. Pre-conception counseling with a geneticist is highly recommended [19][20].

The Transition Challenge

One of the hardest parts of living with OI is helping your child transition from a pediatric “one-stop-shop” clinic to the fragmented world of adult medicine [4]. It is essential to find an Adult Medical Home—a primary doctor who is willing to learn about OI and coordinate with various specialists [4][12]. Helping your teenager build a comprehensive “medical resume” of their history is one of the best tools you can provide for their future success [4].

Frequently Asked Questions

What are the most common non-bone complications for adults with OI?
Adults with Osteogenesis Imperfecta frequently experience systemic issues because collagen is found throughout the body. The most common complications include progressive hearing loss, restrictive lung disease, heart valve issues, and brittle teeth.
How often should an adult with OI have their hearing checked?
It is generally recommended that adults with OI undergo audiometry testing every two to five years. If any noticeable changes in hearing occur, testing should be done sooner to monitor and manage progressive hearing loss.
Can women with Osteogenesis Imperfecta have a safe pregnancy?
Yes, women with OI can have successful pregnancies, but they are considered high-risk. Pregnancy increases the risk of spine fractures due to added weight and hormonal changes, and Cesarean sections are often required for delivery.
What tests are needed for routine adult OI monitoring?
Routine screenings for adults with OI typically include DEXA scans for bone density, audiometry for hearing, echocardiograms for heart health, and pulmonary function tests if lung issues or severe scoliosis are present.
How can I help my teenager with OI transition to adult medical care?
The best way to help your teenager is to find an Adult Medical Home, which is a primary doctor who coordinates with multiple specialists. It is also highly beneficial to build a comprehensive medical resume detailing their genetic test results, past surgeries, and medication history.

Questions for Your Doctor

  • • Which 'lead' physician will coordinate my child's multidisciplinary care now that they are transitioning to adult medicine?
  • • How often should they receive screening for extra-skeletal issues like hearing loss (audiometry) and heart valve function (echocardiogram) as an adult?
  • • Given my child's specific OI Type and any spinal curvature, should they have baseline pulmonary function tests (PFTs) to monitor their lung health?
  • • What is the long-term plan for bone-strengthening medications, and how will future DEXA scan results influence that decision?
  • • Can you refer us to an Adult Medical Home or a primary care provider who has experience with rare metabolic bone disorders?

Questions for You

  • • What are our primary health concerns for our child's future—is it still fracture prevention, or are we more worried about things like hearing, pain, or fatigue?
  • • Do we have a 'medical resume' that includes genetic test results, a list of all past surgeries (with types of rods used), and a history of medications to hand off to the adult team?
  • • How does chronic pain or fatigue impact our teenager's daily life, and have we empowered them to discuss these 'invisible' symptoms directly with the medical team?

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References

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    Spontaneous extracranial arterial dissections in a case of patient with osteogenesis imperfecta.

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    Osteogenesis imperfecta in a male holstein calf associated with a possible oligogenic origin.

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This page provides educational information on transitioning to adult care for Osteogenesis Imperfecta. It does not replace professional medical advice from your child's healthcare team.

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