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.