Key challenges in transition: how young people with rare diseases are falling through the net
Estimated reading time: 7 minutes
Lack of preparation
Abrupt and poorly managed health transitions are a perennial problem in rare disease and occur when a young person is moved from child‑centred to adult health services (or between services) without adequate preparation, communication or continuity. Instead of feeling supported and informed, the young person often experiences confusion, anxiety and a sense of being “dropped” between systems.
When transitions are rushed or unplanned, key information is frequently lost. Medication histories, previous surgeries, red‑flag symptoms, genetics results and agreed emergency plans may not be clearly communicated or effectively transferred. Parents or carers, who have often been the “walking medical record,” may suddenly be expected to step back before the young person has been helped to build their own understanding or confidence around their healthcare needs. The result can be missed follow‑ups, delayed investigations, inappropriate reassurance or symptoms being dismissed because professionals do not fully understand the condition or the individual’s baseline.
If no one takes responsibility for joining the dots between services, young people end up carrying the whole picture in their heads—and vital pieces are easily lost at the moments they most need help.
“I don’t think anyone ever thought I’d get this far. I didn’t even think I’d get this far. I didn’t know what the plan was. I didn’t know what alternatives were. I didn’t know if I’d be in supported living or living with my parents my entire life.”
Poorly managed transition also undermines self‑advocacy. Young people may not yet have an “elevator pitch” for their condition, may not know which professional to contact related to differing aspects of their condition, and may feel unable to challenge assumptions (for example, when all symptoms are attributed to the underlying condition, or when serious pain or headaches are minimised). Without structured support to develop skills like keeping a personal record, understanding surveillance needs or knowing when to seek urgent help, transitions can leave them feeling powerless rather than empowered.
Over time, these abrupt handovers can erode trust in healthcare. Families who have been dismissed or repeatedly “brushed off” may avoid primary care, defaulting to emergency departments or particular specialists they perceive as safer. This pattern increases stress for families and pressure on acute services, while still not guaranteeing that the right information is available at the right time.
In contrast, well‑planned, gradual and person‑centred transitions recognise the emotional, developmental and practical realities of growing up with a complex condition, and aim to carry forward not just the medical data but also the relationships, expertise and confidence that have been built over years.
Loss or reduction of educational support
Loss or reduction of educational support often happens at key transition points moving from primary to secondary school, into college, or from education into employment. For young people with complex health needs or neurodivergence, these changes can feel like the rug being pulled from under them. Systems that previously recognised their needs (extra time, 1:1 support, adapted materials, understanding of fatigue or pain, flexibility around appointments) may not automatically transfer, or may be significantly scaled back without proper review.
“When I went to college, they took my EHCP away from me, and they only gave the excuse of lack of ongoing funding.”
When support is reduced abruptly, it can have a direct impact on learning, attendance, and emotional wellbeing. Tasks that were previously manageable may suddenly become overwhelming. A young person who needs more time to process information or who relies on visual explanations and clear, simple language, may be judged as “not trying” rather than not being properly supported. Frequent medical appointments, procedures or flares in symptoms can be misinterpreted as poor engagement rather than recognised as part of living with a long‑term condition.
This kind of support loss can also damage confidence and identity. Young people may internalise the message that their needs are “too much” or an inconvenience, or that they must hide pain, fatigue or anxiety to fit in.
Poor information, coordination and signposting
Across health and education, many young people report not knowing what transition would actually look like. Crucially, many are never signposted to existing support groups, resources or charities. Some are explicitly told there is “nothing out there” or discouraged from following their career dreams without explanation, only discovering peer support and condition‑specific organisations much later or by chance.
“I wanted advice on my education options and what actually happens next after secondary. I was mentioning I wanted to do childcare in college. They’re like, ‘You going to college? Seriously, I don’t recommend you going to college. We don’t think you should.’ Instead they tried to get me to go on to learning education courses, independent life skills etc”
“I was told that being a nurse probably wasn’t the best option—it wasn’t feasible. But then did they go on to explain why, or talk about maybe other options? No.”
From mid‑teens onwards, young people are often expected to self‑advocate in complex systems: attending meetings alone, reading and signing formal documents and repeatedly explaining their needs to professionals who don’t always listen.
Many describe having to “prove” themselves—both academically and medically—just to secure basic support.
“Everything I brought up, it’s just, ‘Oh, it’s just nothing, you’re fine,’ until I started showing evidence and actual proof, like videoing myself walking. Then they take me seriously. Otherwise, they just don’t. They just don’t take me seriously.”
Transition is not limited to clinics and classrooms. Young people regularly highlight a lack of preparation for everyday independence: using public transport after years of school transport, managing money, navigating work experience or jobs, and balancing disclosure of needs with fear of losing opportunities.
These broader life transitions often happened simultaneously with health and education changes, compounding stress. Where support does exist, it is rarely joined up or explicitly framed as “transition” planning.
These challenges show that transition for young people with rare diseases is a multi‑system issue. Addressing it requires coordinated planning, legal and practical safeguards, and a genuine shift towards listening to, and acting on, the lived experience of young people and their families. With advocacy groups currently bearing the brunt of the work in trying to support young people through this challenging chapter of their lives, there is a real opportunity being missed. Transition shouldn’t fall to already time and resource stretched non-profit organisations to fill yet another systemic gap. The solutions needs to come from all stakeholders involved in the evolution of the education, care and treatment of a young person throughout their lives. This needs infrastructure and that in turn needs investment and the ability to look at this challenging through the broadest lens. It also needs policy directives and the weight of decision makers within these systems to recognise the issues and be proactive in legislating for improvements.
The experiences shared to use by our RARE Youth Revolution community over the last 10 years are clear on the urgency and scale of the issue. What is less clear, is what is being done at global, national or region level to address this.
What can you do to lend your weight to this challenge?
If you would like to learn more about the transition experiences of our youth community and explore ways to elevate this conversation, we would love to hear from you:
hello@rarerevolutionmagazine.com
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