RARE Toolkits

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


Receiving Medical Care

Most medical institutions have policies regarding when young adults should begin their transition to adult-oriented primary care doctors and specialists. The patient may be 16, 18, 21, or 25 when the shift occurs, and young adults should ask the current healthcare team how the transition process is handled.


Becoming an Adult: Taking Responsibility for Your Medical Care
Jennifer LeComte, Medical Director of Transition Care Practice at Christiana Care Health System, gives details about the transition process from pediatric to adult care providers.

Evaluating Current Care

As children become adults, their healthcare needs change and it is important to have doctors who know how to keep their patients healthy as adults. But before they make the transition to adult-oriented primary care, there are questions they should ask themselves to evaluate their existing healthcare teams, including:

● Does my disease feel like it is under control? How often are my symptoms bothering me? Consider how often there are “bad days” when symptoms feel unmanageable. Patients who feel like they are not getting the answers or tools they need may want to consult another adult-oriented physician.

● Am I comfortable on the medications I’m taking? Do I feel comfortable talking to my doctor about changing them? Not all medications are easy to metabolize. Some may cause severe side effects that can last hours, days, or even weeks. If medications are not working and the doctor seems unwilling to help find other solutions, it may be time to seek a second opinion. For some rare conditions, treatment options may be limited, but changing dose timing, diet, or using relaxation techniques may help.

Making Educated Choices About Prescriptions
Ilana Jacqueline, a rare disease patient advocate, talks through how to make educated choices about medications.

● Is the doctor listening? This is an important question. Having an open line of communication between the doctor and patient means feeling comfortable with discussing symptoms and speaking up about concerns. Practice speaking with your provider yourself (and alone) rather than letting a parent do it for you.

● Is the doctor available during emergencies, or is there another physician in the practice on-call? Many doctors have too many patients to care for all at once, so they enlarge their practice to include other doctors who can help carry the load. It’s important for a patient to confer with all of the doctors in the practice so that they are familiar with the case.

● Is the doctor knowledgeable about my specific condition? If not, is he willing to reach out to other specialists for guidance? It’s great to have doctors you like and respect, but if they are unfamiliar with the disease or unwilling to reach out to other specialists for guidance, consider looking for an alternative.


Questions to Ask a New Doctor

Just as it is wise to evaluate the existing medical team before transitioning to a new one, it is equally important to assess alternative options before selecting them. Here are some questions to ask the new physician or specialist.

● Are you familiar with this condition? How many patients do you treat with it? Remember, not all doctors will have experience with every rare disease. It’s great to find doctors who already have similar patients, but as long as they are willing to learn about the condition, you should be in capable hands.

● How many years have you been in practice? Patients may prefer to have a physician who has been in the field for several years over one who recently graduated medical school.

● What hospital are you affiliated with? In an emergency, who will guide treatment? Doctors may be affiliated with different hospitals, meaning they have access to different diagnostic tools and can direct treatment. If a doctor has privileges at the hospital their patients usually use, he or she will be able to see and treat them while they are there.

● Does the doctor accept my insurance? Are the services, tests, and exams performed in the office covered by my co-pay? This is also a question to ask the appointment or registration staff. More information on this can be found within Section 3: Understanding Health Insurance. For some treatments, the pharmaceutical company making the drug can help with insurance issues as well.

● Do you have malpractice insurance? Not all doctors carry malpractice insurance. Look into the doctor’s past history to see if there have been any malpractice lawsuits.

● Will you work with other specialists to help coordinate my treatment? Thanks to new technology, it’s easier for doctors to communicate with each other. Electronic medical records offer virtual records, patient notes, and test results, many with online portals for patients.

Read more on how to speak to doctors and prepare for appointments in the Becoming an Empowered Patient: A Toolkit for the Undiagnosed.


Finding New Primary Care Physicians and Specialists

Sometimes it can be challenging for people with a rare disease to find new primary care physicians or specialists. Kendall Gagliano, who has intracranial hypertension, has had that problem. Her pediatrician typically only sees patients until they are 16, but agreed to continue seeing Kendall beyond that point.

“Due to my rare case, my pediatrician knew that I would have trouble finding a doctor, so she was willing to treat me for an extra two years. And unfortunately her fears have come true because finding an adult primary care physician has proved to be a challenge,” says Kendall Gagliano, a volunteer for The IHope Foundation. “I think when you have a rare disease like I do, it can be hard for doctors to understand what we are going through. I have had a lot of bad experiences with past doctors.”

Whether insurance is provided by an employer, educational institution, or a parent’s plan, it will dictate which primary care physicians and specialists are available. Keep this in mind when trying to find a new doctor. Here are a few steps to take when finding a doctor:

● Obtain a list of primary care physicians and specialists from your company, insurance plan, or current doctor. These lists can generally be found on insurance plan websites. Before selecting any physicians from the list, be sure they are in practice and accepting new patients.

• Connect with patient advocacy organizations that focus on your rare disease. Other patients can provide support and information on adult oriented physicians that have helped them, recommendations they have received from their pediatric specialists, and their research.

● Read the physicians’ online bio, usually available on the website of their current academic appointment or medical center. Research the doctor’s board certification, training background, experience, and most recent research endeavors.

● Visit a peer review website, such as Vitals, and search for each physician being considered, read their ratings, and learn what other patients have experienced.

Additional resources to locate physicians and specialists near you can be found through the Center for Advancing Health’s Be a Prepared Patient. After selecting a physician, send an introductory letter, call and alert the doctor’s office that the letter is coming, and ask to have the physician or office manager call once it has been received. If the phone call or first visit does not go well, keep looking to find the right fit—as long as there is no medical crisis or need for prescription refills.