An overview of day-to-day life managing mitochondrial disease.

1. Day-to-Day Management
of Mitochondrial Disease
Cristy Balcells, RN, MSN
MaryBeth Hollinger, RN, MSN

2. MitoAction’s vision is to create a
community of support that reaches
every child, adult, and caregiver
affected by a mitochondrial
disease.

3. While helping families living today with
mitochondrial disease, we strive
3
• To improve quality of life for adults and children affected by
mitochondrial disease.
• To raise awareness internationally about mitochondrial disorders
and their relationships to other diseases.
• To provide specific and practical materials that help patients to
manage their symptoms.
• To aggregate and connect the international mitochondrial disease
community and to engage the pharmaceutical industry working
toward therapeutic approaches to mitochondrial disorders.
• To create tools that empower patients and caregivers to be
advocates for themselves or their children.

4. Mitochondrial Disease
• Simply stated: Mito is an energy shortage within
the body!
4

5. •
Mitochondria, tiny organelles within the cell -- the powerhouse
of the cell -- create 90% of cellular energy.
• Mitochondrial failure causes cell injury that leads to
cell death. When multiple cells die within an organ,
symptoms of organ failure arise.
www.bbc.com
5

6. Does this look like Mito?
6

7. Symptoms are variable!
7
• Multi-system symptoms typically involve three
or more body systems which may appear
unrelated or without identifiable cause.
• Body functions and organ systems that are high
demand are impacted most significantly: brain
and nerves, GI, eyes, ears, liver, heart,
pancreas, kidneys, and muscles.

8. Red Flag Symptoms
8
• Non-vascular stroke-like lesions, neurodegeneration,
ataxia, MRI findings consistent with Leigh's disease
Hypertrophic cardiomyopathy, unexplained heart block in
a child, cardiomyopathy with lactic acidosis
Retinal degeneration with night blindness, ptosis
Severe GI dysmotility, unexplained or valproate-induced
liver failure
Rhabdomyolysis, FTT, hypersensitive to general
anesthesia, exercise intolerance not in proportion to
weakness
•
•
•
•
Described in detail on Mitochondrial Medicine
Society website (www.mitosoc.org)

9. Associated Symptoms
9
• Hypotonia, intractable epilepsy, hearing loss
• Tachycardia, including postural
• Optic nerve hypoplasia, pigmentary retinopathy
• CVS, chronic, unexplained constipation or
diarrhea
• Hypothyroidism, hypoparathyroidism

10. •
10
Renal tubular dysfunction, aminoaciduria,
nephrotic syndrome
• Basal ganglia lesions, CNS atrophy
• History of SIDS, multigenerational maternal
inheritance patterned migraines, depression, or
anxiety
• Go to www.mitosoc.org for a full list

11. Diagnostic Process
• Mito is difficult to diagnosis for many and may
take many years, especially for the adult patient.
• Ruling OUT other more common diseases takes
time.
• Negative tests have a high false-negative rate,
which adds to confusion!
11

12. Keep in Mind
12
•The classification system for mitochondrial disease is
incomplete and not clinically oriented.
•The abnormality can vary from tissue to tissue within
the same person, and perhaps within the same organ
as well.
•There is no consistent diagnostic abnormality for all
patients with mitochondrial disease (Haas, 2007).

13. •
13
Metabolic screening of blood and urine
• Metabolic screening of CSF if
neurological symptoms
• Evaluating systemic or
organ involvement
• Genetic studies if above points to Mito
Testing typically includes:

14. Mito Specialists
14
• More are needed across the USA and beyond
• Difficult to get initial appointment because of
demand
• Primary care is needed to forge a path to diagnosis
• MitoAction -- http://www.mitoaction.org/doctors
• MMS Interactive map -- http://www.mitosoc.org/clinics/

15. Referral Process
15
• Establish a working relationship with
medical team: primary, neurologist,
ophthalmologist, and/or any area where
symptoms are of concern and not explained by
other causes.
• Primary care doctors can order many of the initial
tests required to begin the diagnostic process.
• Medical evidence consistent with a mitochondrial
issue strengthens a referral to a specialist.

16. FirstAppointment!
• Tool Kit http://www.mitoaction.org/mito-navigator-toolkit-
overview
• Communication
• Medical Records
• Support
16

17. Social Media
Guidelines
PCP Interaction
Medical Home
Medical Professionals
Record keeping
for Improved
Communication
Sharing Research
Findings
Becoming a
Great Advocate
17
Ge t More f rom
Ever y Appointment
Communication Resources
www.mitoaction.org

18. Records
18
• Obtain copies of medical records -- part or whole
• PCP as keeper of full records -- Medical Home
• Emergency Protocol letters

19. Support
19
• Support groups
• Family and Friends
• Counseling and Hotline Support

20. Symptom Management
20
• The treatment of Mito includes treating each body
system with dysfunction, even with Mito as the
underlying cause.
• Many Mito patients, therefore, see multiple
specialists, making effective communication
vital.
• Nutrition, hydration, energy management and the
Mito cocktail are the cornerstones to management.

21. Dysautonomia
21
Disorder of the Autonomic Nervous System
• POTS
Temperature dysregulation
Cardiac, GI, nervous, respiratory system and
more
•
•

22. POTS
22
Can severely impact life!
Types -- Partial, Hyperadrenergic, & Secondary
Highly recommend watching Dr. Blair Grubbs’
podcasts and reading his publications.

23. Under supervision of a physician:
23
• Reconditioning program -- 20-30 minutes
of aerobic exercise three times per week
• Resistance training of lower extremities
“LOW AND SLOW!”
Use PT or cardiopulmonary rehab for support
Exercise!
Grubb, B., Journal of Cardiovascular Electrophysiology, 2006

24. Under supervision of a physician:
24
• Fluids -- 2-3 L+ a day. Gatorade and milk preferred.
• Salt (3,000-10,000 mg daily) in pill form, salty snacks,
or added to food
• Compression stockings (30-40 mmHg pressure, waist
high)
• Raise HOB
• Avoid substances and situations that worsen
symptoms (dehydration, extreme heat, prolonged
sitting and standing, alcohol, caffeine)
http://www.dysautonomiainternational.org/

25. Medications
25
Fludrocortisone
Beta Blockers
Midodrine
Clonidine
Pyridostigmine
Benzodiazepines
SSRIs
SNRIs
Erythropoietin
Octreotide
http://www.dysautonomiainternational.org/

26. Heat Intolerance
May be associated with inability to sweat, elevated body
temperature, red or mottled skin, dramatic loss of
stamina and/or muscle tone.
26
•
•
•
•
•
•
Hydrate -- begin before going out!
Cooling vests
Light, breathable layers of clothing
Baggies with wet wash cloths
Avoid being outside at hottest times of the day
Plan ahead -- shade, fans, water to cool off

27. Cold Intolerance
27
Exposure to cold temperature can cause muscle pain and
fatigue as the muscles work harder to generate heat.
• Layers of clothing, especially wool
Be aware of malls, hotels, conference, offices, and
restaurants with A/C
Hand and foot warmers, seat warmers, electric blanket
and mattress pads
Warm car before heading out
Consume hot foods and drinks
Plan ahead with extra clothing (damp/wet clothes)
•
•
•
•
•

28. Protocols
MitoAction has printable protocols and strategies
developed by Dr. Mark Korsen and Maggie Orr, RN,
including:
28
• Fever and Infection
• Vomiting
• School
• Anesthesia, procedures and surgery
http://www.mitoaction.org/protocol

29. Nausea, Vomiting, Diarrhea,
Constipation, GI Pain,Anorexia
29
Mitochondrial function and energy production are dependent upon good
nutrition and hydration. Fasting can cause critical energy shortages in a child
or adult with Mito. A team approach is vital to maintain hydration and nutrition.
• Small, frequent meals of easy to digest food/drinks
• GT or JT feeding when needed: TPN when oral feeds fail to maintain weight
• Overnight feeds may be especially beneficial
• Zorfran and Benadryl for nausea
• Stool softeners, laxatives and extra fluids for constipation
• Abdominal pain may be treated by combination of medications such as
amitriptyline and prokinetics to improve motility

30. Vomiting and Diarrhea
30
Gut may not be able to tolerate much for 12-24 hours after
virus and may takes weeks or months to fully recover. Use
IV support if needed.
• Begin small! 1 tsp of clear liquid every 30 minutes
and progress slowly if tolerated.
• BRAT diet when tolerated
• Balance high-calorie foods with digestible foods
• Treat underlying causes aggressively. Germ avoidance!
Protocol: http://www.mitoaction.org/files/protocol-vomiting.pdf

31. Fever
Fever dramatically increases the body’s energy
demand, which can be associated with lethargy,
regression, weakness, and metabolic crises.
31
Fever should be treated aggressively with fluids
and medications (ibuprofen and acetaminophen).
Have a plan in place of when to call Primary,
what actions to take, and when to go to ER.
Protocol: http://www.mitoaction.org/files/protocol-
fever-and-infection.pdf

32. Pain, Fatigue, Weakness
32
• Pain -- one of the greatest challenges as pain
consumes physical and emotional energy
• Chronic pain is difficult to treat effectively
• Pain often leads to depression, anxiety, and feelings of
hopelessness, especially when ignored by family and
medical team
• Migraines, abdominal, muscle, & nerve pain are common
• When pain is controlled, other symptoms are easier to
manage

33. Migraines
33
• Avoid triggers -- Sleep, timing of meals, infection,
exhaustion, dehydration, hormone fluctuations.
• Keep headache, food, sleep, and general trigger
logs to find potential triggers!
• Have a plan for acute pain relief.
• Hydration, nutrition, rest, and exercise are key!

34. Nerve Pain
34
Neuropathy -- ranges from tingling to deep,
burning, aching pain, or stabbing shocks.
Numbness can occur.
• May be helped by Mito supplements, namely
ALA, CoQ10, and Carnitine
• PT, hydration, and Neurotin (gabapentin) are
frequently prescribed

35. Muscle Pain
35
Deep aching pain, especially in arms, legs and back that tends to
be worse when lactic acid levels are high.
• Pain management should be a priority. Keep a pain/trigger log.
• Medications, including Marinol, may be needed to stay ahead of
the pain.
• PT, OT, exercise, yoga
• Accupressure, chiropractic measures, relaxation techniques
• Palliative care, focus on quality of life, and pain centers offer
big picture approaches to pain.

36. Myopathy
36
• Includes weakness, low stamina, “floppy,” low
tone, pain, exercise intolerance
• Adhere to plans for hydration and nutrition
• Carnitine, creatine, and CoQ10
• Build rest periods into day -- respect limits
• Exercise -- Builds better mitochondria

37. Seizures & Stroke-Like Events
37
Literature suggests that over 60% of Mito patients
have seizures or will develop seizures. Many
children have difficult to manage seizures.
• Again -- log to uncover triggers -- hypoglycemia,
fatigue, stress, hydration
• Ketogenic Diet under direct medical care
• Meds often vital -- although avoid valproic acid

38. Stoke-like episodes (SLE) – cardinal feature in
lactic acidosis, encephalomyopathy, and MELAS.
SLE is not a true vascular stroke, but considered to
be a metabolic stroke.
38
• Can look like vascular strokes with aphasia,
hemiparesis, and facial weakness.
• Acute in onset, often transient/reversible, and
occasionally associated with a febrile illness.
• Vastly different medical histories than typical
stroke patients.

39. (JAMA Neurology, 2016).
“Although much information is still needed regarding the
appropriate dosage and timing of arginine therapy in
patients with MELAS, urgent administration of nitric
oxide precursors in patients with MELAS ameliorates
the clinical symptoms of stoke-like episodes.”
www.ncbi.nlm.nih.gov/pubmed/26954033
(JAMA Neurology, 2016)
39
MitoAction summary of MMS full update: http://www.mitoaction.org/blog/mitochondrial-medicine-society-
update-2016
MMS Consensus Protocol - SLE

40. MMS Protocol
IV Arginine -- 0.5 gm/kg/day for 3-5 days while
patient has symptoms
Maintenance -- PO Arginine 0.3 gm/kg/day
40

41. Depression & Anxiety
41
• The human brain uses 23% of a body’s daily energy
-- the biggest energy demand of all!
• Mito causes disregulation of the cells’ ability to make
energy, causing symptoms throughout the body.
• Dysregulation in the brain causes depression,
anxiety and other issues.
• Approximately 80% of patients with Mito experience
anxiety and/or depression.
• Coping with chronic illness is also tied to depression.

42. Reality for Many
42
• Psych symptoms are overlooked due to medical
crises, therefore little help or support is offered.
• Body and mind are not viewed as interactive
parts of whole body.
• Psych symptoms are viewed as hypochondria,
overreacting, somatoform, or Munchausen
Syndrome.
• Bottom line -- patients suffer and QOL is
impacted.

43. • Cognitive Behavior Therapy
• Medications -- and doses may not be
typical (think outside the box!)
• Mito cocktail -- especially B vitamins, creatine
and CoQ10
• Exercise, yoga, stress management
43

44. Puberty
•
•
•
•
Metabolic stress of puberty onset
Added energy demands of growth
Changes in hormones
Change in sleep patterns
For some teens, add:
•
•
•
•
•
Social changes
School pressures
More losses
Unique differences compared with peers
Increased awareness of their future
44
www.zits.com

45. Puberty Brings
• Increase in severity of symptoms/new symptoms
• Increase in autonomic system symptoms
• Menstruation
• Depression, anxiety, irritability, mood swings
• Non-compliance with treatment
• Desire for independence
www.zits.com
45

46. Hints
46
• Puberty is hard on the parent, too -- find support.
• Teens need MORE support during this time -- emotionally and physically.
• Shortened school day, fewer classes, home instruction, extended year,
online classes
• Technology aids to save energy (voice to type)
• Support for school stress and life stress
• Extra set of books, IEP, 504 plans
• Hobbies are vital!
• Be available to listen, guide, and adapt current plans.
• Throw away time frames -- Let school and life happen at its own pace.
• Be mindful of the pros and cons of social media.

47. Doggie Bag*
(*take-home points)
• Plan ahead for everything to save time and energy in the long
run!
• Consistency matters -- rest, fluids, nutrition, exercise, meds.
• Avoid all triggers, including germs.
• Remember to breathe and LIVE life (focus on the important
things that bring joy to your day and take a break from Mito!).
• Protocols can help take the pressure off the family.
• Seek support -- setback are likely and the losses are real.
• Continue to raise Mito awareness -- become an advocate!
47

48. Thank you to all for listening today, for your ongoing
support, and for sharing your stories with our Mito
community.
48

49. Additional Reading
49
www.MitoAction.org
Balcells, Cristy. Living Well with Mitochondrial
Disease, 2012.
Mitochondrial Medicine Society - www.mitosoc.org
MMS Stroke protocol- http://www.ncbi.nlm.nih.gov/
pubmed/26954033