Tips for Advocating For Your Mito Disease Diagnosis

People with mitochondrial diseases may have symptoms affecting multiple organ systems, including the brain, eyes, gut or heart. This can lead to confusion over which medical specialty to turn to for a diagnosis. Symptoms may overlap and could involve severe fatigue, weakness, pain and muscle problems.

At the beginning of my journey to a diagnosis, the idea of getting a diagnosis in a newer area of medicine like mitochondrial diseases felt daunting. Plus, how do you pursue a diagnosis when you aren’t feeling well and may be overwhelmed?

The secret lies in learning how to be your own advocate for a diagnosis.

Here are my 12 tips for how I navigated a complicated healthcare system and diagnosis journey:

1. Track and chart your days: Are you having trouble getting your doctors to understand or believe your symptoms? Start using some type of a charting system to help your doctor better understand and recognize your symptoms. There are things about my mito disease that I never would have figured out had it not been for tracking/charting. MitoAction has a new app built for patients with mitochondrial symptoms that can track your health info and share those symptoms.

2. Note your trends and triggers: Tracking your symptoms against medications, foods and activities may help you start to see trends over time. These trends will help offer your doctor quantitative information regarding when and for how long your symptoms are affecting you. This will help to give your doctors a sense of how debilitating the disease can be for you. I kept track of my steps and symptoms in Track and Share, an iOS/Android app that allows you to build your own chart. That helped me realize that whenever I walked above a certain number of steps, I would be unwell the rest of the day and for several days after. This knowledge of my trigger taught me to use my Fitbit as a “check in” to alert me when I should stop before I overdo it and get ill. It also gave me specific data I could discuss with my doctor about how I was feeling, so I could communicate clear information about my exercise intolerance and fatigue to my doctors instead of just saying, “I’m tired all the time.”

3. Prepare for and document doctor’s appointments: In preparing for appointments, plan to provide detail and context around your symptoms. For example, if you have dizzy spells, don’t just say “I get dizzy.” Tell them, “I get dizzy spells every afternoon when it is too hot,” and for how long you have been feeling that way. When speaking about your energy levels, illustrate the extent to which fatigue is interfering with your daily life. Instead of saying, “I feel tired all the time,” which might be something that an average healthy person might claim, you could say, “I have to sleep 6 hours during the day and 12 hours at night. My fatigue is having a severe impact on my life as a mom.” This level of detail helps your doctor truly understand the serious impact fatigue takes on your daily life. Buy a small notebook and use it for doctor’s appointments to take notes on key pieces of information and next steps. It can be easy to forget after you leave their office or not remember accurately. It’s also okay to ask questions and double check with the doctor for accuracy if you are not feeling well or if it is difficult information to process. This will pay off later when you need to explain what doctor #1 told you to tell doctor #2 at the next appointment. The goal is to keep the information accurate and get to the root of your diagnosis. Too often, it almost begins to feel a bit like a game of telephone from when you were a kid! In your notebook, also write down the things that are critical to cover at your next appointment. Prioritize these questions and topics to be mindful of your appointment and your doctor’s time.

4. Be consistent: Try to describe your symptoms the same way to each doctor, using your medical notebook to remember those important items to cover. This is especially critical when your specialist appointments are weeks or months apart. Explaining your symptoms the same way to each doctor helps to give your physicians a consistent view of your condition, which will help your medical team to reach a diagnosis.

5. Mention mitochondrial disease: Mitochondrial disease isn’t typically top of mind for doctors. If you think that you may have a mitochondrial disorder, take charge by asking your doctor if you could discuss a condition you recently learned about that seems to match your symptoms. Mention that you’ve been in touch with UMDF, MitoAction, MitoCanada or The Barth Syndrome Foundation: this is more powerful than mentioning you read about it on the internet. As your doctor may not be familiar with mitochondrial disease, you could also bring along a printed copy of UMDF’s guide.

6. Ask for an evaluation from the Mitochondrial Centers of Excellence: Your doctor may help arrange for you to see one of the doctors at the Mitochondrial Centers of Excellence to be evaluated. If you are unable to see a doctor at one of these designated mitochondrial medicine centers, ask your doctor for a referral to a geneticist at a major university hospital.

7. Find a local resource or support group: If you would like to learn more after your appointment, ask your doctor to recommend a support group or local resource. Not only will this connect you locally with peers facing a similar journey, it will help to strengthen your support network.

8. Be emergency-ready: If unexpected medical issues arise, you may not be able to see your usual doctor. Keep a printed list of your medical history, allergies, surgeries, medications and up-to-date lab tests. If I need to go to the hospital, I carry a binder with my complete medical information, which has emergency protocols, anesthetic and fasting protocols, as well as information about mitochondrial diseases and more specific information about my mutation.

9. Keep a resilient attitude: Don’t give up on yourself: you deserve proper care and an accurate diagnosis. It is absolutely okay to advocate to get the care you need, but the trick is to always do so in a very positive, polite and respectful way while getting your point across.

10. Have a sense of humor: Realize if you have mitochondrial disease that you are always going to be considered a “rare patient.” You will be treated differently in the healthcare system and will always be a “zebra.” At first, it’s hard to find your footing because of the fear that kicks in with a new diagnosis, new tests or the unknown. Having traveled this road now for many years, I can tell you that finding something small to laugh at during a painful procedure or something fun to talk about with a nurse during a long stay in hospital can mentally lighten the load that you carry. I find caregivers treat you differently when you are able to find a bit of humor and cope well with your journey.

11. Reach out to the mito disease community: As you go through this process, I cannot stress enough how important it is to reach out and get involved in the mitochondrial disease community. It is an incredibly supportive community through which you can get great information, meet others locally and receive support as you navigate your search for a diagnosis.

12. Consider a second opinion: If you feel like you are not being listened to, you are not alone. Assess the situation; does it feel like a doctor is not willing to listen? If so, it might be time to consider a second opinion. This is the time to reach out to patient advocacy organizations for guidance. Often, they can help guide you to doctors in your area that are familiar with mitochondrial diseases and provide literature to support conversation with your doctors.

Getting a diagnosis for a mitochondrial disease may not always be as straightforward as for common diseases, but it is certainly possible. It just requires extra commitment from you and your care team. Don’t be discouraged; you are the expert on your body. You should use your expert knowledge to be your own advocate and clearly communicate symptoms, triggers and test results to the right medical experts on your mitochondrial disease diagnosis journey.