Melissa DiVietri, a Chicago-born author and disability advocate living with sacral agenesis, continues to amplify the lived experience of rare spinal congenital conditions through her memoir and public speaking, highlighting critical gaps in longitudinal care access and psychosocial support for adults with complex spinal deformities across the United States.
Understanding Sacral Agenesis: A Rare Congenital Spinal Malformation
Sacral agenesis is a rare congenital disorder characterized by the partial or complete absence of the sacrum, the triangular bone at the base of the spine that connects to the pelvis. This malformation, occurring in approximately 1 in 25,000 live births, often results in varying degrees of lower limb paralysis, neurogenic bowel and bladder dysfunction, and spinal instability. While some individuals retain ambulation with orthotic support, others require wheelchair mobility from early childhood. The condition frequently co-occurs with other anomalies, including cardiac defects and gastrointestinal malformations, necessitating multidisciplinary lifelong care.
In Plain English: The Clinical Takeaway
- Sacral agenesis is a rare birth defect affecting spinal development, not an injury or acquired condition.
- Management focuses on maximizing function, preventing complications like pressure sores and urinary tract infections, and supporting independence.
- Long-term outcomes depend heavily on access to coordinated care, including neurosurgery, urology, and rehabilitation services.
The Lifelong Care Gap: From Pediatric Specialization to Adult Abandonment
While pediatric centers in cities like Chicago, Los Angeles, and Boston offer comprehensive spina bifida and spinal malformation clinics, adults with sacral agenesis often face a precipitous drop in coordinated care after age 18. A 2024 study published in Journal of Pediatric Rehabilitation Medicine found that over 60% of young adults with congenital spinal disorders reported discontinuing specialized follow-up due to insurance barriers, lack of adult-trained providers, or geographic inaccessibility. This transition gap increases vulnerability to preventable complications such as autonomic dysreflexia, progressive scoliosis, and renal deterioration.
Dr. Arjun Patel, Director of Adult Spinal Rehabilitation at Shirley Ryan AbilityLab in Chicago, emphasized this systemic failure:
“We excel at saving lives in childhood, but we fail to build bridges into adulthood. A 25-year-old with sacral agenesis shouldn’t have to explain their condition to a primary care provider who’s never seen it.”
Geographical Disparities in Access to Adult Spinal Care
Access to specialized adult spinal rehabilitation varies dramatically by state and insurance type. In Illinois, where DiVietri resides, Medicaid expansion under the Affordable Care Act has improved coverage for durable medical equipment and home health services, yet fewer than 12% of physiatrists report feeling adequately trained to manage neurogenic bowel in adults with congenital spinal anomalies, per a 2023 survey by the American Academy of Physical Medicine and Rehabilitation. In contrast, states like Massachusetts and Minnesota, which maintain dedicated adult spina bifida clinics linked to academic medical centers, demonstrate lower rates of emergency admissions for urologic complications.
The National Institutes of Health (NIH) has recognized this disparity, funding the Longitudinal Outcomes in Congenital Spinal Disorders (LOCSD) consortium—a multi-site study tracking 500 adults across six U.S. Regions to evaluate functional outcomes, healthcare utilization, and quality of life. Preliminary 2025 data suggest that patients with access to coordinated adult care experience 40% fewer hospitalizations for preventable complications compared to those relying on fragmented community care.
Advocacy as Clinical Intervention: The Power of Lived Experience
Melissa DiVietri’s advocacy work transcends storytelling; it functions as a form of health literacy intervention. Her memoir, Unbroken: A Life Rebuilt Vertebra by Vertebra, details not only her surgical history—including posterior spinal fusion at age 12 and ongoing management of tethered cord syndrome—but also the psychological toll of navigating a healthcare system unprepared for adult disability. Her TEDxChicago talk, “Designing Worlds That Fit Us,” calls for universal design principles in medical facilities, from adjustable examination tables to accessible imaging equipment.
Dr. Lisa Iezzoni, Professor of Medicine at Harvard Medical School and a leading researcher on healthcare equity for people with disabilities, affirmed the clinical value of narrative medicine:
“When patients like Melissa share their stories, they don’t just raise awareness—they generate data. Narrative exposes systemic flaws that clinical trials often miss: the humiliation of being weighed on a scale that can’t accommodate a wheelchair, the dread of a urologist who refuses to catheterize someone with a spinal anomaly.”
Funding, Conflicts, and the Integrity of Advocacy Narratives
DiVietri’s public speaking and writing are supported through independent grants from the Christopher & Dana Reeve Foundation and personal income from book royalties and speaking engagements. She reports no financial ties to pharmaceutical companies or medical device manufacturers. This independence strengthens the credibility of her critique, particularly when addressing industry-driven trends such as the aggressive marketing of elective spinal fusion procedures in adults with congenital deformities—a practice increasingly scrutinized for lacking robust long-term outcome data.
The U.S. Food and Drug Administration (FDA) has issued guidance discouraging off-label promotion of spinal devices in pediatric populations transitioning to adulthood, citing insufficient evidence on durability beyond 10 years. Meanwhile, the European Medicines Agency (EMA) requires post-authorization safety studies for all implantable spinal devices, a standard not yet mirrored in U.S. Premarket approval pathways for humanitarian use devices.
| Care Component | Pediatric Access (US) | Adult Access (US) | Gap Identified |
|---|---|---|---|
| Multidisciplinary Clinic | Available in 28 major children’s hospitals | Available in <5 adult medical centers | Severe scarcity post-age 18 |
| Neurogenic Bladder Management | Routine urology follow-up | Often managed by primary care or ER | Increased risk of renal damage |
| Orthotic & Seating Support | Covered under most state Medicaid plans | Frequent delays, prior authorization denials | Leads to pressure injuries, posture decline |
| Mental Health Screening | Embedded in spina bifida clinics | Rarely integrated into adult disability care | Underdiagnosis of depression, anxiety |
Contraindications & When to Consult a Doctor
Individuals with sacral agenesis should avoid prolonged immobilization, excessive weight-bearing on insensate limbs, and delayed management of urinary symptoms. Immediate medical consultation is warranted for signs of autonomic dysreflexia (sudden hypertension, pounding headache, flushing above the lesion level), unexplained fever (suggesting occult urinary tract infection or pressure sore infection), or progressive loss of motor function. Routine surveillance should include annual renal ultrasounds, urodynamic testing every 1–2 years, and spinal imaging if pain or functional change occurs.
Pregnancy in individuals with sacral agenesis requires high-risk obstetric care due to increased risks of preterm labor, fetal malposition, and cesarean delivery. Preconception counseling with a maternal-fetal medicine specialist familiar with spinal anomalies is strongly advised.
The Path Forward: Policy, Training, and Patient-Led Design
Closing the adult care gap requires systemic action: expansion of Medicaid waivers for adult developmental disability services, mandatory training in disability-competent care for internal medicine and family medicine residents, and reimbursement models that incentivize transitional care coordination. The Centers for Medicare & Medicaid Services (CMS) is currently piloting a Complex Chronic Care Management program that could serve as a vehicle for funding multidisciplinary adult spinal clinics.
Equally vital is the integration of patient advocates like DiVietri into healthcare design committees. As she stated in a 2025 interview with Health Affairs:
“Nothing about us without us isn’t just a slogan—it’s a clinical necessity. When we design clinics, we don’t just need ramps. We need providers who believe we deserve to age well.”
References
- Journal of Pediatric Rehabilitation Medicine. (2024). “Transition to Adult Care in Congenital Spinal Disorders: A Multicenter Study.”
- American Academy of Physical Medicine and Rehabilitation. (2023). “Physician Preparedness for Adult Spinal Disability Care: National Survey Findings.”
- National Institutes of Health. LOCSD Consortium. Longitudinal Outcomes in Congenital Spinal Disorders. Ongoing.
- U.S. Food and Drug Administration. (2023). “Guidance for Industry: Off-Label Promotion of Spinal Devices in Pediatric Populations.”
- Christopher & Dana Reeve Foundation. Grant Reports. Advocacy and Independent Living Programs, 2022–2025.
