Getting a proper diagnosis for a mitochondrial disease takes commitment from a patient or caregiver, but it also requires building a strong support system through friends, family and your doctor.
Through my journey with mitochondrial disease, specifically LHON Plus, I found that it is critical to be your own advocate with doctors. It’s also incredibly helpful to recruit an advocate—a family member or a close friend—who can help support you.
A good advocate should be a good listener. Someone who will hear your needs and your beliefs, whom you trust to speak up with questions or concerns.
Once you have a candidate, sit down and have an honest conversation about your needs and expectations. For example, you may feel like you only need an advocate during the diagnosis process, or only during times of crisis in the hospital.
Only you know what you need and only your advocate knows what he or she can offer. That’s why it is so important to have an open, honest conversation first.
Bring your advocate to important medical appointments. An advocate can be in charge of taking notes, so you can focus on listening to the doctor and expressing your concerns. Your advocate can also have your questions on hand, so he or she can remind you if you’ve forgotten to ask any.
At times, you may feel like your doctors are not listening. Sadly, almost every person with mitochondrial disease has experienced this—I know I have, and it’s been a big challenge. Having an advocate speak up to describe the symptoms they see you facing can reinforce your own descriptions.
My primary care doctor has been a very big advocate for me. In addition to using a friend or family member, find one doctor who believes in you, even if their specialty is not mitochondrial disease. Stick with them, and he or she can help you find doctors who believe in you during your path to diagnosis.
Your support team will be your go-to for emotional and physical support throughout the diagnosis and management of your mitochondrial disease. Recruit the strongest team based on your needs and stay true to how they can help you navigate your journey with mitochondrial disease.
Inherited Mitochondrial Disorders: A Family Diagnosis
After living with undiagnosed symptoms for years, the thought surprised me: You’ll be diagnosed through him. Call it a mother’s intuition or the still small voice. Either way, the thought intrigued me as my youngest son, Sam, and I navigated similar symptoms—symptoms initially dismissed as stress.Read Susan's Story