A rare disease diagnosis is life-changing. Parents of children with rare conditions must become medical experts out of necessity. Complex care regimens, specialist coordination, and challenging medical terminology suddenly become a crucial part of their daily routine.

But the burden caregivers face isn’t just at home. Parents must educate physicians, fight for insurance coverage, and advocate for their children to be treated with equity and care. Despite the fact that one in every ten people will be diagnosed with a rare disease in their lifetime, the healthcare system lacks a fundamental understanding of these conditions and their management.

Golin Health‘s The Raising Rare Report represents a boundary-breaking effort to understand how caregivers and teenagers perceive the transition into adult care. The survey includes insights from 261 patients ages 16-23, as well as 120 caregivers ages 25-55, across 175 rare disease states, and found that these groups have different visions of what independence looks like and how to achieve it.

A Transition Crisis Between Adult and Pediatric Care

Over the past few decades, our world has seen incredible medical advances, from CRISPR and mRNA vaccines to cancer immunotherapies and the development of tailored treatment for various rare conditions. While this has contributed to longer lifespans and brought joy to many people’s lives, medical advances have also shifted the healthcare space. As The Raising Rare Report shares:

Today, thanks to advances in science, patients with rare diseases are living longer, fuller lives. But as younger patients grow into adulthood, they must learn to manage their own healthcare, pursue education and careers, and maintain relationships.

Rare Diseases International suggests 70% of rare conditions manifest in childhood. A generation ago, some of these children may not have survived until adulthood, or may have experienced severe complications in adulthood. Today, medical advances have overcome some of these challenges. But the healthcare system is unclear how to move forward.

The infrastructure problem starts with a basic mismatch. Pediatric specialists spend years learning the nuances of how rare conditions present in rare children (though this, too, can be complicated given the variability of many diseases). These specialists build relationships with families, understand patient responses to treatment, and create personalized care plans.

But when patients turn 18 or 21 years old, what happens? Adult providers rarely have experience with conditions which have historically been considered pediatric. A young adult with Gaucher disease or osteogenesis imperfecta (OI) might find themselves explaining the condition to a physician as said physician reads about it on their phone during the appointment. The specialist who managed their care may not have formal relationships with adult providers. And there’s no billing code for transferring two decades of medical knowledge.

Teenagers and young adults, seeking more health independence, must navigate healthcare systems that are unprepared to receive them. The complication here intensifies when considering that while these groups largely agree on current treatment decisions — with 70% of caregivers and 65% of patients in alignment — their expectations for the future diverge dramatically. 77% of patients plan to change their treatment plans, while 53% of caregivers expect plans to remain the same. Young adults might struggle with new care plans in systems that aren’t yet clear how to handle the disease as a whole.

The Conflict Between Independence and Support

Miscommunication between patients and caregivers may stem from differences in how patients view their health independence versus how caregivers view preparedness.

Study numbers reveal that 98% of caregivers worry that their loved one’s rare disease will make it difficult for that person to plan for the future.

Although 90% of youth surveyed agreed that their rare disease might have some impact on future planning, youth don’t seem to have the deep concerns their parents have. In fact, 67% of youth plan to change their daily routines and 48% intend to switch their care team.

Caregivers and patients also disagree on preparedness. 79% of caregivers worry their loved one won’t be prepared for health independence. But 79% of youth who achieved independence had felt prepared.

“The results suggest that caregivers may be underestimating their loved ones’ readiness and overestimating the risks,” the researchers conclude.

What’s Causing This Breakdown?

One reason why caregivers may feel significantly more stressed about their child’s future is because caregivers typically take ownership of treatment decisions — or, at least, they feel they do. Among caregivers surveyed, 67% viewed themselves as the sole decision-maker for treatment decisions, with only 25% sharing decision-making equally with their loved one — a clear contradiction from the 51% of patients who feel they mutually manage care.

Many parents understandably take on this role out of love and necessity. When your child has a condition that most doctors or emergency rooms don’t know how to handle, that expertise is necessary. As a result, parents may feel stressed about their child’s health independence because it feels as though they can no longer protect them.

But this can contribute to serious burnout. A 2024 report from the CDC shared that caregivers have a heightened risk of anxiety and depression. Rare disease caregivers are also more likely to experience both financial and physical burdens, including sleep disturbances and appetite loss.

The Raising Rare Report corroborates this, sharing:

• 74% of caregivers feel overwhelmed balancing health needs with the rigors of daily life.
• 53% report their relationships have suffered, with 40% expressing feelings of isolation or loneliness.
• 21% don’t feel comfortable in social settings where people don’t understand their child’s disease.

Burnout also comes from caregivers’ years of unpaid labor. Although most parents I’ve spoken to will gladly take on the work if it helps their child, parents of children with complex medical needs must track medications and symptoms, navigate prior authorizations, and coordinate with specialists. Caregivers are essentially balancing a full-time position with their other responsibilities and roles in the home, in their careers, and in their relationships.

So caregivers are not actually catastrophizing about their child’s future when they worry about the transition into adult care. Instead, caregivers recognize that the infrastructure keeping their child healthy does not always exist or must be heavily cultivated.

Looking for additional support? Give An Hour offers free mental health resources for rare disease caregivers, and the National Organization for Rare Disorders (NORD) also offers several beneficial resources.

Mental Health and Rare Disease

The Raising Rare Report examined what caregivers believe their children should prioritize in future care, compared to what the patients believe they should look for.

To caregivers, the most important things they want their loved ones to learn include everyday disease management (74%), understanding the treatment plan (71%) and their rare disease as a whole (70%), and life skills like time management (57%). In terms of treatments, caregivers prioritize their loved ones’ ability to do daily activities like personal hygeine efforts or laundry (88%), as well as participate in social events (63%), physical activity (43%), and travel or special events (39%).

While these are important to many patients, patients clearly prioritized more mental health and connection in both transition support and treatment choice:

• Guidance from healthcare providers: 74% (transition support); 78% (treatment choice)
• Peer-to-peer conversations: 57%; 63%
• Mental health resources: 57%; 59%
• Educational materials: 43%; 26%

It feels as though many patients would prefer having guidance and support on their path to autonomy, whereas caregivers prioritize hard skills. In a way, this makes sense. After all, although patients must learn those hard skills, they are also seeking out resources to help with the unique psychological challenges of living, caring for themselves, dating, and finding a job with a rare condition.

Mental health support, then, stands in as a way to help patients cope with their conditions while also building identity, life, and care plans that are shaped by, but not defined by, their diseases.

Informational Differences

Another key insight from The Raising Rare Report is how patients and caregivers differ in seeking out information. Patients turn to social media (56%) and advocacy groups (66%) for daily management, while caregivers rely on treatment websites (77%) and official medical materials (80%).

When it comes to preferred sources of information on rare diseases and treatment direction, however, caregivers heavily prefer healthcare providers (87%), Google and medical news outlets (66%), and advocacy groups (37%), while patients align more closely with doctors (79%) and peer support groups (59%). Interestingly, no patients reported advocacy groups as a preferred source for treatment information, suggesting rare disease advocacy groups could increase their efforts to provide support for community members.

Young adults typically seek out peer support, especially online, because they want to discuss with other people who get it. How do you explain an invisible disability to someone who thinks you look fine? What do you say when friends complain about minor health issues when you’re managing something life-threatening? How do you maintain friendships when you can’t drink alcohol because of medication interactions? Social media provides scripts for these discussions, strategies for disclosure, and validation that their struggles are real.

How Can Doctors Improve Communication and Care for Rare Disease Patients and Caregivers?

Improving caregiver-patient communication, and streamlining the transition between pediatric and adult care, relies on the implementation of several approaches and solutions, the first of which is better connection between care teams and families. According to The Raising Rare Report:

Both caregivers (70%) and patients (74%) are eager for more in-depth conversation and guidance from their care teams. Both groups (71% of caregivers; 57% of patients) are hungry to understand the long-term treatment plan and how the treatment will work. They’re seeking help to understand how to measure treatment success and how to assess if the current treatment plan is supporting their individual care priorities in a tangible way.

As the report continues:

Real-world insights point to an opportunity — and great need — to empower rare disease doctors to engage their patients as partners and ask about their values and long-term goals.

Beyond this communication and engagement, supporting the transition of care should be more proactive, rather than reactive. Healthcare systems need funded transition programs that start years before the actual handoff and address both psychological development and medical management. These programs could include peer mentors who’ve successfully navigated transition, mental health providers trained in rare disease challenges, and case managers who can help young adults build their own support networks.

Insurance companies must also recognize transition as medical care requiring coverage. The current system will pay for crisis but not prevention, creating both higher costs and more suffering. More transition planning could prevent emergency room visits, medication non-compliance, and costly complications.

As the researchers conclude: “The Raising Rare Report is not just a snapshot of where we are but direction for how we move forward.” The question remains how we will listen.

Read Golin Health’s The Raising Rare Report for a more comprehensive overview of the data.