Tips for Preparing for a Doctor’s Appointment When You Have a Rare Condition

PicnicHealth | Tips for Preparing for a Doctor’s Appointment When You Have a Rare Condition
April 9, 2021
Blog post originally written by the AllStripes community team. AllStripes was acquired by PicnicHealth in 2023.

Blog post originally written by the AllStripes community team in collaboration with patient ambassadors. AllStripes was acquired by PicnicHealth in 2023.

People with rare diseases, and their families, often feel like they are the experts in the room when meeting with a doctor who is not specialized in their condition. They may find themselves educating medical professionals about the condition – and many have even experienced a doctor Googling their rare disease during an appointment. This exchange can be particularly stressful when someone is seeking symptom relief.

On top of this, people in the rare disease community have a lot of medical records. They often have to come up with elaborate organizational systems to keep these (sometimes life-long) records organized. In many instances, this means huge folders, binders, and making use of filing cabinets. But you can’t lug the entire filing cabinet to a doctor’s appointment!

So, how can those of us with a rare disease make sure we get the most out of our doctor’s appointments? We asked some patient ambassadors for their top tips:

1. Practice what you want to say, and what you want the doctor to truly understand

It may sound strange to rehearse for an appointment, but knowing how you want to express what is most important to you can help you get more out of your visit. It can also help you focus your own thoughts around your goals for the appointment as you talk through it on your own.

“The symptoms of most conditions or syndromes are not ‘one size fits all.’ Each patient has a unique experience with their condition(s). I’ve found that it’s helpful to be able to explain the broad characteristics of my syndrome while also articulating how my syndrome affects my body specifically. Before meeting with new doctors, I orally rehearse my medical history, highlighting and vividly describing the unique manifestation of symptoms in my body. Because my doctors can read about my syndrome on their own, I think it’s important that I underscore my experiences with my syndrome so that they know how it affects me.” —Lindsey, PROS Ambassador

2. Bring your own educational materials if needed

If you’ve come across a resource that you think explains your condition well, print copies and bring them with you when visiting a new doctor or facility. That can help guide conversation and you’ll have it on hand to reference or fact-check, which may relieve some stress during the process.

“I give them a pamphlet I got from NTSAD (National Tay-Sachs & Allied Diseases Association) that explains what LOTS (Late-Onset Tay-Sachs) is because it is so rare that most doctors have never heard of it.” —Andrea, GM2 gangliosidosis Ambassador

3. Write down a list of questions

This tried and true tip is widely recommended by doctors and patients. Ensure you don’t forget an important topic by making a list before you go, either on paper or on your phone.

“My top tip is always write down your list of questions. I always have many questions, and sometimes I need to prioritize, because I know the doctor’s time with me can be limited. Most of my doctors are not familiar with my rare disease, inclusion body myositis, or even with me as a patient—I probably would not be recognized by them if we passed each other in a grocery store. My specialist, on the other hand, knows me very well. And he knows that I will be bringing my list of questions every time.” —Rhonda, inclusion body myositis (IBM) Ambassador

4. Be prepared to share your medical journey and records

Sharing your story with a new doctor can feel daunting, but it’s something everyone affected by rare disease is faced with often.

“As far as preparing medical information for an appointment, it is essential to be very specific about symptoms, duration of those symptoms, and circumstances of onset (did symptoms start after a certain event or activity). Family history is VERY important, if you know it. Even things that may seem insignificant are important. Write everything down. If you have been on a long diagnostic journey, having a notebook with all previous providers and tests would be helpful.” - Amy, VCP disease Ambassador

PicnicHealth works to make it easy for rare disease patients to organize their medical records in one place. Our team collects your records on your behalf and centralizes them in a secure online account for you. Patients can give their doctors access to their records via PicnicHealth and have the ability to download their entire file once all records have been collected.

“I have ALL [my son’s] medical records at my fingertips. If we see a new doctor, his records are there immediately for the doctor to review. I also have access to the records which is something not many patients are able to have. I can conduct my own research to help and then discuss my findings with the doctor.” —Kim, Wilson's Disease Ambassador

All in all, you can best prepare for doctor’s appointments by being prepared to talk about your symptoms, listing your goals and main topics of discussion, learning about your family health history, and bringing your updated and organized medical records.



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Create a List

List the names of all the doctors, hospitals, and other facilities your loved one visits regularly, along with those they have visited in the past. Try to go back as far as you can, striving for at least the last 5-10 years, but do your best. Even if you can’t remember them all, having a strong baseline can help you quickly identify gaps in records.

Ensure You Have the Appropriate Legal Status

It is important to make sure that you are fully empowered to make decisions on behalf of your loved one with Alzheimer’s. Your relationship status with the patient may not be enough to legally give you access to your loved one's medical information. It is a good idea to talk to an expert about securing special legal status, such as Power of Attorney (POA), a legal document that allows an individual to name someone as their decision maker should they no longer be able to make decisions on their own.

Gather and Organize the Medical Records in One Place

It’s important to have all of your loved one’s medical records together in one spot. This makes it much easier for you and your loved one’s physicians to accurately map the patient’s medical journey and more easily share information between doctors. Fortunately, tools exist to make record management and access simple. A free resource like PicnicHealth helps you collect and organize all of this information. PicnicHealth’s intuitive timeline allows you to pinpoint data across the medical history, eliminating your need for keeping heavy binders filled with paper records or keeping track of multiple software portal logins.

Review the Medical Records to be an Informed Advocate

The better you understand your loved one's medical history, the better you can advocate on their behalf. Access and understanding of this information will help you to ask informed questions with physicians. Through regular communication backed by the data in the medical records, you can help your loved one’s care team develop a more successful care plan.

Learn more about PicnicHealth’s commitment to the Alzheimer’s community and the Alzheimer’s Association

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Together, we can make a difference.

Learn more about PicnicHealth’s commitment to the Alzheimer’s community and the Alzheimer’s Association

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Build a support network.

When you’re juggling appointment times and insurance claims, putting a robust support system together might not strike you as the most urgent task. Investing the time to cultivate relationships with people can turn to in times of need will pay dividends. The next time you need a last-minute ride or just someone to listen, you won’t be on your own.

There are many condition-specific support groups and support groups for caregivers generally in person or online. In addition to the encouragement and empathy they provide, support groups can be a helpful source of tips, resources, and recommendations for navigating caregiving.


Stay organized.

The backbone of effective caregiving is organization. Keep medical information, appointment schedules, and medication lists in order. Use a planner or a digital service like PicnicHealth to stay on top of your responsibilities. This attention to detail can prevent future complications and reduce day-to-day stress.


Explore treatments and clinical trials.

We’ve seen incredible breakthroughs in treatment over the past couple of years, powered by patients and their caregivers participating in research. Stay in the loop about the latest in medical advancements and available resources that could benefit your loved one. Whether it’s a new therapy option or a community service that aids independence, being informed can make a world of difference in the quality of care you provide.


Make time for self-care.

It may seem self-centered to focus on self-care—but when you feel good, you can be a better caregiver. Whether it’s exercise, a mindfulness practice, a soak in the bath, or just time to rest when you need it, carve out those moments in the day when you can unwind, reset, and stay healthy mentally and physically. Think of it as building up your reserves of kindness, patience, and understanding—which can only benefit your loved one. No one can pour from an empty cup.

Having trouble managing your loved one's medical records?

Easily manage all of your loved one's medical records and contribute to ongoing Alzheimer's research with PicnicHealth.

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LC-FAOD Odyssey: A Preliminary Analysis, presented at INFORM 2021

Data from real-world medical records:

(from 13 patients with LC-FAOD)

16 yrs old

Median age at enrollment

38% Female

15 providers / patient

7.5 years of data / patient

Data from patient-reported outcome (PRO) survey

(from 13 patients with LC-FAOD)

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Tip: Download or print the poster at the end of this article to review before your next appointment!
However, it's important to consult with a healthcare provider or registered dietitian to determine the appropriate amount of protein for your individual needs. In general, a diet with moderate protein intake (about 0.8 grams per kilogram of body weight per day) is recommended for people with kidney diseases.

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