Effectively Communicate Your Rare Disease Journey to Healthcare Providers

As a rare patient or caregiver, you probably have both the lived experience and research under your belt to make you an expert in your rare disease. Explaining your story to different doctors over and over can be exhausting and disheartening. Despite your best, most well-informed efforts, you may still feel like you can’t get on the same page with your healthcare provider (HCP). 

As a patient or caregiver, your healthcare goals are informed by the holistic needs of your everyday life, while your HCP may be more focused on your medical history, symptom management or the next thing to fix. 

“That’s sometimes why parents and doctors are struggling, because one’s looking for the biology and the other’s looking for the biography” – Mike Porath, Founder and CEO of The Mighty.

Finding common ground can be tricky. Here are some tips on how to focus the narrative you tell of your medical needs with your HCP before, during, and after your appointments to get the most out of your visits, and create creating a more cohesive easier partnership with your care team. 

Before:

• Set an agenda for your visit – You can even email this to your doctor ahead of time to give them some time to prepare. Prioritize questions around your top concerns,  Include any new symptoms, do you need to review any medications you’re taking?
• Preparing a one sheet printout can do a lot of the heavy lifting for you. 
• Bring in resources – photos, videos, or a symptom journal can help your HCP see your rare disease through your eyes, rather than medical spectacles. And showing key data over time helps a clinician to see trends and makes recurring issues more obvious. 
• Have the short version ready to go – Practice strategically summarizing your background information to save time. 

“To make sure I covered the essentials, I would mimic the phrasing used during rounds: “My child has x condition which means x, her cell counts are y, she is on z medication, and we are here today because of abc complication.”  By summarizing the critical information in one minute or less, we could spend the rest of the time troubleshooting what mattered most for that visit. Every single provider we met thanked me for so clearly articulating the background information. The added benefit is that I quickly demonstrated my expertise in the condition, which elevated the overall tone of the conversation to be more collaborative.”
– Lindsey Wahlstrom-Edwards, rare mom and Partnerships Lead at Sano Genetics.

During: 

• Skip the small talk – Being strategic with your limited time can mean being brief and to the point. You may need to redirect the HCP’s questions to get your priorities covered. If your doctor starts off with “how are we today?” use that to dive right into your agenda rather than explain your day.
• Be partners with your doctor – Doctors don’t have all the answers. Don’t worry about stepping on toes or egos – your expertise as a patient or caregiver is valuable. By partnering together and combining your knowledge, you are more likely to come up with some solutions. 

“As rare parents, we’re taught you have to fight. In some cases you do, but once you get in that room and the door closes, you are talking not to someone you are going to battle with, you are talking to a partner” – Mike Porath

• Ask about consolidating care – Doctors often suggest multiple appointments, sometimes scheduling out months in the future. Ask if you can combine procedures/testing/checkups etc. into one visit instead of coming in for multiple follow ups. 
• Ask about coordination of care – who is ensuring that the specialists will all talk to each other? And if no one is, ask how you should be the quarterback of your own care. or what kind of provider will
• Ask for another opinion – A marker of a good doctor may be whether or not they are willing to work as a team with other HCPs. One way to address a disagreement is to ask if they can recommend a second opinion when it comes to the end of the visit. You might avoid bruising their ego if you phrase this as “Are there other specialists I should consult?” rather than an alternative opinion.

Afterwards:

• Assign action items – Like you would at the end of any meeting, recap or assign goals and tasks for the HCP and for yourself to make the most of your time in between visits. 
• Agree on a communication channel – Ask your HCP about the best way to reach them in between appointments e.g. portal, email, phone, text.
• Try a narrative approach – Suzanne Edison and Aviya Lanis, who have worked together to champion narrative medicine, suggest reflecting on how you feel both physically and emotionally after an appointment. Writing or making art about your experience may bring some clarity for both you and your provider about what is and isn’t working. 

“That reflective process can offer insight into whether or not that is a no go for future interactions with that provider or another opportunity for connection and whether or not you want to offer that story and experience in a different way that maybe they hadn’t heard from that light before. That might totally shift their understanding of what your experience may have been.”
– Aviya Lanis MD, Pediatric rheumatology fellow.

What if it is just not working – How do you know when it is time to move on?

Sometimes you can try everything in your power to communicate well with an HCP, but it is still just not the right fit. As a rare patient, you may even run into some medical gaslighting with an HCP who does not truly hear or believe your experience. 

“If after several opportunities for communication, your caregiver is still not really understanding your particular point of view and needs, then it might be time to move on and find somebody who does.” –  Suzanne Edison, MA, MFA, poet, mental health coordinator, and rare parent

• Understand your HCP’s boundaries – It may feel like you need more consistent care than your HCP can offer. Ask how often communication can exist outside of appointments in emails, phone calls, or other forms of checking in. 
• Let them know what Redefine success means to you – Express to your HCP that you don’t need them to have all the answers, but just to be someone who can help you and advocate for you along your rare journey. 
• Teamwork – In theory, it would be great to have one HCP meet all your needs. However, as a rare patient, you may need to rely on multiple doctors. Think of it like you are leading a team that is working together to meet your goals. 

“As anyone managing a rare condition will attest, you very quickly become one of a handful of experts. One of the most frustrating parts of managing my daughter’s condition is that I never felt like I got to just be her mom. Even on the most stressful days, I had to actively play a role in her care coordination. It’s a double-edged sword because some days you are just too overwhelmed to fill that role. It’s okay to ask to speak with the hospital social worker, palliative care teams (note: palliative care is about quality of life, not end of life), or request a full team meeting with all of the specialists on your care team to get clarity or more help understanding where you are in the diagnosis or treatment journey and the key symptoms or challenges to address in order of importance.”
— Lindsey Anne Wahlstrom-Edwards

• Measure their actions – Some doctors might make promises that they don’t follow through on, like telling you they are available when they really are not. Evaluate whether their actions match up to their words.
• Get a recommendation from a dependable source – If you have a trusted HCP who is open to working together, even if they are not the right person to help you with a specific issue, use that connection for a recommendation.  
• Trust yourself – If your gut is telling you that it’s time for a new doctor, it probably is.

Remember each person on your care team has their expertise, but you have the most expertise in your unique set of symptoms and concerns. You are the lived experience expert. You are not just the consumer of healthcare services, you are an active member of your medical care team. You may even find you have to quarterback your team of experts. Keep these cooperative relationships in mind and you should find each team member more receptive to and understanding of your health narrative.

By Olivia Monforte
Rare disease advocate & Global Genes volunteer