For many, turning 18 signals newfound independence – starting post-secondary education, embarking on a first job or moving out of their childhood home. But for those living with a rare medical condition, this milestone comes with a far more daunting task: transitioning from pediatric to adult medical care.
I have osteogenesis imperfecta (OI), a rare genetic condition that makes bones fragile and prone to fracture. I spent much of my childhood in and out of hospitals, undergoing surgeries, wearing casts and attending countless follow-up appointments. My pediatric care team knew me inside and out – not just my medical chart, but me as a person. They coordinated with each other seamlessly: my health was at the centre of every decision.
Rare diseases like mine often present with complex, multisystem involvement. In pediatric care, patients often benefit from multidisciplinary clinics where specialists coordinate care seamlessly, and from providers who have followed them since diagnosis.
But many young adults describe the transition from pediatric to adult care as though they are “starting from scratch.” Care goes from being team-based to appointments with individual providers. And there is no good way to transfer years of complex patient data to those individual providers, with one participant, from a Canadian qualitative study of 23 young adults with complex care needs, lamenting: “You can’t get through 20 odd years of different things … in a 15-minute [adult] appointment.”
My experience was unfortunately no different. For the past eight years since I have left the pediatric system, I had been fracture-free – a gift I never took for granted. Then, recently, I sustained a complex break. It was my first since adolescence. Strangely, I didn’t panic. While the pain was sharp and immediate, there was also an odd sense of familiarity. The routine was ingrained: the crunch or snap of bone, a rush of pain, the ride to the emergency department, the X-rays – and then surgery (usually), casting, recovery. I had walked this path so many times before. I assumed this time would be no different.
At first, that assumption seemed correct. After my X-rays, a resident told me I would be put in a cast and would have surgery in two days. But the next day, I got a call: the staff physician on call had decided my fracture might heal just fine without surgery. Neither had ever treated anyone with my condition – a question I always ask when meeting a new provider. But they were still confident in their plan.
I’ve learned through living with OI that surgical management is challenging since bone fragility, deformity severity and healing potential vary widely across types. Mild Type I may only need occasional rodding, while severe Types III and IV often require repeated corrective osteotomies and telescopic rods, and rarer types like Type V pose additional issues such as abnormal callus formation. These differences demand meticulous pre-operative planning, gentle intra-operative handling, differing fixation strategies and overall tailored approaches to reduce complications.
I asked this new team to liaise with my pediatric team – the experts who had guided my care for decades. But they declined, telling me that was not their role, and if I wanted my pediatric specialists’ input, I would have to seek it out myself. Suddenly, the responsibility for coordinating my care was dropped in my lap, in the midst of pain, uncertainty and immobilization.
The next few days passed in a blur of phone calls, emails and coordination. I reached out to nearly every orthopedic connection I had in the health-care system. Some responded immediately with support and guidance, for which I am deeply grateful. Others were more cautious – concerned about “stepping on colleagues’ toes” or “backseat driving” another physician’s case. As a provider myself, I can appreciate where that hesitation comes from; a desire not to overstep, to maintain collegial relationships. At the same time, I’ve always valued the opportunity to learn from colleagues when I find myself facing something outside my usual scope. For me, seeking input isn’t a reflection of inadequacy, but rather an important part of collaborative, patient-centred care.
Instead, I was left with various conflicting opinions from surgeons with limited experience in treating OI, a system that offered little to no coordination between teams and no clear path forward. In the end, I made a decision with limited information. Every now and then, I sit and wonder if it was the right one.
I can’t help but think how different things might have been had this happened when I was younger. As a child and adolescent, my health was a shared responsibility. As an adult, the assumption was that I could – and should – carry it alone.
This is the core challenge of transitioning to adult care with a rare condition: the abrupt shift from a safety net to a tightrope. The pediatric model is built on relationships, continuity and coordination. The adult system is fragmented, hurried and far less inclined to treat patients as complex individuals. For someone with a rare disease, the consequences can be profound: misinformed decisions, delays in care and preventable harm.
For someone with a rare disease, the consequences can be profound.
Research echoes this lived experience. In a Canadian qualitative study, young adults with complex care needs emphasized the importance of continuity – recommending “passing the baton” between pediatric and adult providers to avoid communication breakdowns. Yet, as Ontario Health has reported, nearly half of young people with diabetes experience a gap of over 12 months during transition. My experience – being told to manage coordination myself – illustrates the human cost of these gaps.
In the U.S., only 18.4 per cent of adolescents receive any transitional support when leaving pediatric care. The same review identified four major barriers: the loss of ancillary staff, cultural differences between pediatric and adult systems, poor record transfer and disruptions in insurance coverage. For rare disease patients, these barriers are magnified, as adult specialists often lack training in conditions traditionally considered “pediatric.”
When you live with a rare condition, you may be one of only a handful of patients an adult specialist will see in their entire career. Expertise is scarce, and adult rare disease clinics are few and far between. In the absence of specialists, primary care providers are often left to manage highly complex cases, with varying degrees of comfort and access to support.
Many supports are also stripped away in the transition: pediatric social workers, nurse navigators, and multidisciplinary clinics are rarely mirrored in the adult system. Young adults have explicitly called for transition coordinators to guide them through paperwork, funding and referrals
Innovative programs show what’s possible. A hospital-wide initiative at SickKids (Toronto) established a Transition to Adult Care (TAC) clinic that is disease-agnostic, individualized and remains involved for at least one year post-transfer. The program consults across specialties, develops transition plans and facilitates “warm handoffs” – direct introductions between pediatric and adult providers – to prevent youth from falling through the cracks.
What rarely gets discussed is the emotional impact. Losing a team that has known you for most of your life is a form of grief. It’s compounded by the realization that, in the adult system, you are often “just another case.” That sounds harsh, but it reflects a cultural reality in medicine.
Studies have noted that many young adults felt abandoned, suddenly expected to navigate “depersonalized and overburdened” adult systems on their own and highlighted that relationships are the most important factor in transition: young people are reluctant to leave trusted pediatric teams, and slow to build trust in new adult providers.
My journey into the health-care profession was inspired by my own providers – their compassion, their patience, their willingness to listen. I believed deeply in the profession’s capacity to care. But with time, I’ve come to see more clearly the structural constraints: the personalities, the administrative red tape, the time pressures, and the subtle erosion of patient-centered care when the clock is always ticking.
This isn’t about blaming individual physicians. It’s about recognizing that the adult system is not built to support the complexity of rare disease transitions. We need early, structured transition planning that begins in adolescence, with gradual transfer of responsibility rather than a sudden handoff. We need shared-care models where pediatric and adult teams overlap, ensuring continuity. We need transition coordinators whose sole job is to prevent patients from falling through the cracks.
And most importantly, we need to reframe the culture of adult care. Independence should not mean abandonment. Adult patients – especially those with rare conditions – still deserve coordinated care, access to expert consultation and a health-care system that takes responsibility for guiding them through complex decisions.
Because at the end of the day, the difference between a safe, supported transition and a dangerous one often comes down to whether the system is a partner in your care – or leaves you to navigate it alone.
