RARE Toolkits

Below is a list of all of our current RARE Toolkits.


Have you been searching for answers from many physicians and caregivers? And have you been feeling frustrated and confused with the lack of answers? Then this toolkit is for you.

The goal of this toolkit is to move you from feeling afraid and anxious to feeling prepared, confident and educated on how to manage the next steps in your healthcare journey.

What Does it Mean to be an "Undiagnosed" Patient?

“In the beginning of my daughter’s undiagnosed journey, I felt extremely sad, alone, and frustrated. I expected answers about my daughter, and we never got any. This is a journey I never expected to be on, and I didn’t know anyone that had any experience or advice either. Where do I go? What do we do? What is my daughter’s future? I am her mother and I can’t fix it. It was extremely scary!”—April Alvillar, parent of an undiagnosed child

Alvillar, a parent of an undiagnosed child, expresses the pressing concerns felt when caring for someone with a rare disease. While the path to a diagnosis may vary from patient to patient, everyone searching for a diagnosis shares this period of frustration. But the diagnostic process can become an odyssey if the symptoms continue to elude diagnosis, and the person remains undiagnosed long after the first concern arises.

For many people with a rare disease, obtaining a correct diagnosis takes time. The Shire Rare Disease Impact Report found:

• The average patient spends five to seven years searching for a proper diagnosis.
• They typically consult with up to eight physicians, receiving two to three misdiagnoses.
• Physicians (both primary care and specialists) often don’t have the time, resources, or information to properly diagnose/manage patients with rare diseases, compared to more common diseases.

And that time to a diagnosis is often extended by the inadequate preparation primary care physicians receive on rare disease identification and care. The Journal of Rare Disorders’ article Physician and Patient Perceptions Regarding Physician Training in Rare Diseases: The Need for Stronger Educational Initiatives for Physicians found:

• Fifty-seven percent of primary care physicians rated their training in rare diseases as neutral, ineffective, or very ineffective.
• Forty percent of primary care physicians and twenty-four percent of specialists indicated that they lack sufficient time to do a workup for a rare disease even when they suspect the patient may have one.
• Only approximately twenty-three percent of primary care physicians and twenty-five percent of specialists were likely to consult someone they considered a “disease expert” to help them make the diagnosis.


Becoming Empowered as an Undiagnosed Patient

Being an empowered patient means taking an equal and active role in the care of yourself or a loved one, managing healthcare information, proactively researching and learning the most about the disease or condition, and seeking needed answers. Being equipped in this way can improve the chances of doctors listening and providing better care.

Having a rare or undiagnosed condition can be difficult. It is common to feel isolated, alone, afraid, anxious, and misunderstood. But when you seek help for the symptoms, and instead, leave the physician’s office feeling dismissed and patronized, those feelings can turn to hopelessness. The best protection against developing these feelings are well-kept medical records, patience, being organized, and the confidence to seek another opinion when you feel it’s required.

This toolkit outlines many of the steps of becoming an empowered patient. But there are other resources on this important subject, including:

Center for Advancing Health: This nonprofit organization works to increase people’s engagement in their healthcare. They listen to patient perspectives and provide resources that encourage direct participation in one’s healthcare.
Dr.Greene.com: This community aims to improve children’s health by informing and inspiring those who care for them. It provides information and perspective to prepare parents to become knowledgeable partners who can work with their children’s physicians in a new and rich way.
The Empowered Patient Coalition: The coalition strongly feels that the first crucial steps in patient empowerment and patient safety efforts are information and education. They provide needed tools, strategies and support to assist the public in becoming informed and engaged medical consumers.
E-Patient.net: This blog publishes the latest news and information on healthcare. Its founder, Tom Ferguson, coined the term “e-patients” to describe individuals who are equipped, enabled, empowered and engaged in their health and healthcare decisions. He envisioned healthcare as an equal partnership between e-patients and health professionals and systems that support them.
The Journal of Participatory Medicine: This peer-reviewed, open access journal’s mission is to advance the understanding and practice of participatory medicine among healthcare professionals and patients.
The Society for Participatory Medicine: This nonprofit organization is devoted to promoting the concept of participatory medicine, a movement in which networked patients become responsible drivers of their health. It provides resources, reference tools, and best practice standards that support participatory medicine.

One of the best and most important resources is support from other patients and their families. Whether you are experiencing a specific sign or symptom, feel lost or confused with the journey of finding a diagnosis, or want additional advice on best practices, other patient advocates provide a myriad of benefits.

Quote Mark

The best advice I ever receive is from other parents. They live this life 24/7, and they know what works and where to go. Our children are all dealing with very different syndromes/diseases, but a lot of the symptoms are similar between children. This is where you need to ask parents questions. Who is your doctor and what has been your experience with them, how is their child treated for the symptom, how do you manage the symptom at home, what is their diagnosis, and what have they been tested for?


April Alvillar

parent of an undiagnosed child

Alvillar says being a parent of an undiagnosed child can be isolating. Even though her daughter was without a diagnosis, she suffers from seizures. So her family got involved in the Epilepsy Foundation of Los Angeles. Even if epilepsy is not her daughter’s only issue, any advancements in research on epilepsy she felt would benefit her daughter. The group’s website offers a vast array of resources and events for people suffering from epilepsy.

“Getting involved makes me feel like we are doing something about it,” says Alvillar. “It brings us closer as a family, and we feel we are making a difference.”

See the Perspectives to learn more about the importance of patient support.