Preparation
clinical_notes Questions to Ask Your Doctor
Going to an appointment can feel overwhelming. These question prompts can help you get clearer answers and leave with a better plan.
edit_note Tip: Bring a notebook
Use these questions to prepare an individual discussion about testing, medicines, monitoring and family planning. Bring the questions that matter most to you; not everyone needs every test or treatment mentioned. Adapt this consultation aid to phenotype and priorities; it does not prescribe a standard investigation or treatment schedule. 12345
biotech
Diagnosis & Severity
- What does my heteroplasmy result tell us, and what can it not predict? What does my heteroplasmy result tell us, and what can it not predict?
- Was my test done on blood, urine, or muscle? Should I get tested from another tissue?
- Do I have MELAS, MIDD, or an overlap? How do you determine which one?
- Are there other tests I should have to get a full baseline?
- What does my muscle biopsy show (if done)?
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Progression & Prognosis
- What can my symptoms and test results tell us about the future, and what remains uncertain? What can my symptoms and test results tell us about the future, and what remains uncertain?
- What new symptoms should I watch for?
- Which treatments have evidence of helping the problems I have? Which treatments have evidence of helping the problems I have?
- Will my hearing loss / diabetes / kidney issues get worse? How fast?
- Is there a way to predict which organs will be affected next?
medication
Treatment & Medications
- Is there a reason for me to take any supplement, and how would we judge benefit? Is there a reason for me to take any supplement, and how would we judge benefit?
- Are there any medications I need to start right away?
- Which drug precautions apply specifically to me, and can we record them? Which drug precautions apply specifically to me, and can we record them?
- If I take metformin, how do my individual risks and other options compare? If I take metformin, how do my individual risks and other options compare?
- What's the evidence behind the supplements - and what doses?
- What is known and uncertain about arginine or citrulline for my situation? What is known and uncertain about arginine or citrulline for my situation?
- Are there any clinical trials I should consider?
monitor_heart
Monitoring & Baseline Testing
- Which baseline assessments do I need, and why? Which baseline assessments do I need, and why?
- How often should I repeat each test?
- Who orders these - you, or do I need separate referrals to audiology, ophthalmology, cardiology, nephrology?
- Which blood or urine tests would change my care? Which blood or urine tests would change my care?
- Should I track my own symptoms at home? Is there a tool for that?
emergency
Surgery & Emergencies
- What should a hospital team know if I come in for an emergency?
- Can you write me an emergency letter that I can carry?
- What anaesthetic plan fits my diagnosis and organ function? What anaesthetic plan fits my diagnosis and organ function?
- How should food, fluids and glucose be managed around a procedure? How should food, fluids and glucose be managed around a procedure?
- What should I do during a fever or infection - when should I go to A&E / the ER?
payments
Cost & Logistics
- Are the recommended supplements covered by insurance?
- What will my recommended monitoring cost? What will my recommended monitoring cost?
- Is genetic counselling covered?
- Are there patient assistance programmes for supplements or hearing aids?
- Can I get a disability determination or accommodation letter for work/school?
family_restroom
Genetics & Family Planning
- Which relatives may benefit from genetic counselling or testing? Which relatives may benefit from genetic counselling or testing?
- How do I explain the inheritance pattern to my family?
- What reproductive options are available to me, and what are their limits? What reproductive options are available to me, and what are their limits?
- What's the chance my children will be affected, and how severely?
- Should I see a genetic counsellor?
self_improvement
Daily Life & Mental Health
- How much exercise is safe? Should I avoid anything specific?
- What nutrition plan fits my health and preferences? What nutrition plan fits my health and preferences?
- Is fatigue something I can manage, or will it always be this way?
- Who can help me understand local workplace support and disclosure rules? Who can help me understand local workplace support and disclosure rules?
- Can you recommend a therapist or counsellor who understands chronic illness?
- Are there support groups I can join?
References
5 sources
Sources for the information on this page.
- (2022). Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations. Internal medicine journal. Clinical guidanceDOIFull text↑ Back to text
- (2020). Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus. Journal of inherited metabolic disease. Clinical guidanceDOIFull text↑ Back to text
- (2024). Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group. European journal of neurology. Clinical guidanceDOIFull text↑ Back to text
- (2023). Reproductive options in mitochondrial disease. Handbook of clinical neurology. ReviewDOI↑ Back to text
- (2025). Genetic and reproductive strategies to prevent mitochondrial diseases. Human reproduction update. ReviewDOI↑ Back to text
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