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Empowering Patients and Families

Objective: Develop tools that empower families and caregivers to become more proactive in getting a diagnosis as quickly as possible.


Although individual rare diseases are “rare,” it is estimated that 350 million people globally suffer from a rare disease. The term “rare” has led to a common misconception that it is highly unusual to encounter someone with a rare disease[1]. As a result, patients, caregivers, and frontline providers – even those struggling with a difficult case – often do not suspect that a patient may be suffering from a rare disease, thus extending the diagnostic journey.

Greater public awareness of rare diseases and their prevalence is the first step on the path to a quicker diagnosis. Rare disease organizations such as National Organization for Rare Disorders (NORD), EURORDIS-Rare Diseases Europe, and the Canadian Organization for Rare Disorders (CORD) have recognized the need to counter the perception of “rare,” and have advocated strongly with physician groups to consider rare diseases when pursuing a diagnosis. Some advocates use the phrase “think zebra” to refer to the traditional guidance taught in medical schools, “when you hear hoofbeats, think horses, not zebras,” which encourages physicians to look for the most likely diagnosis. Instead, these advocates are urging physicians to “think zebra” and consider a rare disease as a possible diagnosis when a common one does not fit.

When it comes to children who have not yet received a diagnosis, parents and day-to-day caregivers are the critical source of patient information for the physician. They are most familiar with the child’s medical symptoms, behavioral patterns, responses to earlier treatment, family history, and previous reports from their physicians and specialists. They are also the child’s biggest champion and advocate.

Equipping families and caregivers with the tools they need to ask physicians probing questions, connect seemingly unrelated symptoms, or inquire about additional testing is both empowering and an effective route to achieve a correct diagnosis.

Online communities have an important role to play in educating and providing support for parents searching for a diagnosis and encouraging them to take greater initiative during physician visits. Likewise, patient ownership of health records is essential in helping families advocate successfully for their child in the doctor’s office. When parents have access to their child’s complex medical history and can communicate about it in a clear and succinct way, physicians are able to make more informed and quicker decisions about next steps on the diagnostic journey.



A set of simple questions and a systematic approach to collecting information can help parents and caregivers engage with their doctor to consider whether their child has a rare disease.

Current Situation

Although they have first-hand knowledge of their child's symptoms, families may experience many challenges to engaging their doctor to pursue a diagnosis of a rare disease. Repeated visits to emergency, consultations with various specialists, trial-and-error with treatments, and searches through the Internet are "dead-end" paths common to many families along the diagnostic journey.

How it would work

When a child is diagnosed with a rare disease, the parent and physician are often able to look back and, in hindsight, connect the dots between what at the time seemed to be unrelated symptoms and test results. Families that are empowered to ask their doctor the right questions based on expert knowledge of their child, will be able to work collaboratively with physicians to connect those dots earlier in the diagnostic odyssey. Knowledge of early indicators can help.

The Global Commission recommends a campaign with three goals:

  • Increase public awareness of the prevalence of rare diseases
  • Provide parents and caregivers with the right questions to ask their pediatrician or primary care physician to help determine whether they should consider the possibility of a rare disease
  • Encourage parents and caregivers to systematically document symptoms and interventions

The campaign would feature common signs or “triggers” that may indicate the need to explore whether a child has a rare disease. These triggers might include*:

Checklist showing when to consider your child may have a rare disease and includes:
                    Your child has been to the pediatrician or emergency room more than 6 times in the past 6 months to deal with similar recurring symptoms.
                    Your child’s symptoms do not clearly fit within any common diagnosis.
                    Your child has been referred to two or more other specialists.
                    Your child tried several recommended treatments (including surgeries) that have not worked as predicted.
                    There are other family members with similar uncommon symptoms.
                    Your child has stopped growing or developing as expected
                    Your child just does not feel right.

* The exact recommendations to be included in the campaign would need to be established following wider consultation with families, patient support groups and professionals

If any of these boxes are checked, the campaign then provides parents with a digital journal to help them carefully track symptoms, consultations, physician recommendations, and treatment successes and failures. With this information in hand, parents are able to have more informed discussions with physicians and should be empowered to ask their doctor to think differently and consider a rare disease.

Why this is promising

Mobilizing parents is a strong lever for action because they are the biggest champions for their child’s health. Raising awareness among parents and providing them with useful information and tools will enable them to work more collaboratively with their child’s physician to problem solve. Together, they can chart a path toward testing and specialists who will hopefully be able to help explain the symptoms, rule out conditions, and potentially provide a diagnosis.

Sample questions designed to facilitate a collaborative, problem-solving exchange with a physician may include:

What are common diagnoses that might explain my child’s symptoms and responses?  How well does my child fit those profiles?
                    Are there additional specialists whom we should consult?
                    Should we consider a rare disease? Should we get a genetic test?
                    Where can we access more information about conditions that might explain these symptoms?

The campaign would provide links to a range of patient advocacy groups for support services. And thanks to technological innovation, online resources are rapidly expanding parents’ ability to search for particular symptoms and receive a list of potential disorders which they could discuss with their pediatrician.


It will be important to frame the campaign as an effort to help parents and physicians work collaboratively to find a diagnosis. Parents should understand that a rare disease may not be the answer, but it is equally important that physicians listen to families and consider the potential of a rare disease. Not every journey will lead to a rare disease, but these collaborative pathways are important even if a clear diagnosis is not attained because it will help provide a holistic understanding of what the child is experiencing and the best care options.


A secure, patient-owned data aggregation system eliminates the difficulties of information sharing among frontline providers, geneticists, patients, and caregivers.

How it would work

A secure technology would help aggregate all patient data from physicians and parents, which can be substantial after multiple physician and specialist visits and countless tests. The technology would ensure privacy, give patients full control over their data and only be accessed by the patient (or his/her parents/caregivers in the case of a minor or guardianship). Electronic health records, notes from multiple physicians, and other key pieces of information – including patient-entered data – would be in one place and parents would manage the information. Ideally, the parent or caregiver could easily see and transport the comprehensive summary of information through a personal “passport.” Parents would bring this passport – or share it beforehand – to each new physician, lab, or specialist visit, ensuring that the entire care team has all relevant patient information at their disposal to make the best decision on next steps.

Why this is promising

Disparate data is a key barrier to improved coordination across specialists, leading to inefficiencies and delays in diagnosis, care, and treatment.

Patients are empowered to share crucial medical and other relevant information without requiring a deep understanding of the medical records.
                  Physicians have a comprehensive summary of all patient data and can make more informed decisions.
                  The Health System benefit is that it also saves staff time tracking records and decreases unnecessary repeat testing.


Aggregating data across multiple health systems and practices raises several potential challenges, including interoperability with various health record systems, privacy concerns, and lack of trust in the concept of data sharing. Additionally, in some countries such as the United States and Malaysia, patients do not own their own health data. Where this is the case, national policy around existing health data ownership should be considered in implementing this recommendation.