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Section 1: Adults with Mitochondrial Myopathy Data Collected in Questions 1 and 2 Were Used to Identify Respondents and Are Not Included in This Report

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Section 1: Adults with Mitochondrial Myopathy Data Collected in Questions 1 and 2 Were Used to Identify Respondents and Are Not Included in This Report Externally-Led Patient-Focused Drug Development Meeting on Mitochondrial Disease 2019 Post-Meeting Online Survey Results Section 1: Adults with Mitochondrial Myopathy Data collected in Questions 1 and 2 were used to identify respondents and are not included in this report. Question 3: Please select one Answer Choices Responses I am an adult with a mitochondrial myopathy 55.58% 219 I am a caregiver of an adult with a mitochondrial myopathy (or have lost a loved one) 11.93% 47 I am a parent/caregiver of a child who has a neurologic manisfestation with mitochondrial disease (or have lost a loved one) 30.20% 119 I am none of the above 2.28% 9 Question 4: Where do you currently reside? Answer Choices Responses US Pacific (AK, CA, HI, OR, WA) 6.63% 11 US West and Mountain (AZ, CO, ID, MT, NM, NV, UT, WY) 1.81% 3 US Midwest (IA, IL, IN, KS, MI, MN, MO, ND, NE, OH, WI) 9.04% 15 US South (AL, AR, DE, FL, GA, KY, LA, MD, MS, NC, OK, SC, TN, TX, 25.30% 42 VA, WV) 24.70% 41 US Northeast and New England (CT, NH, NJ, NY, MA, ME, PA, RI, VT) Canada 1.81% 3 Australia 20.48% 34 Europe 10.24% 17 Question 5: Do you live in: Answer Choices Responses a city 31.71% 52 a rural area 30.49% 50 a suburban area 37.80% 62 Question 6: How old is the patient? Answer Choices Responses 18-20 years old 3.07% 5 21-30 years old 11.04% 18 31-40 years old 14.11% 23 41-50 years old 20.25% 33 > 50 years old 51.53% 84 Question 7: At what age were you or the patient diagnosed with a mitochondrial disease? Answer Choices Responses 0-10 years old 6.63% 11 11-17 years old 3.61% 6 18-20 years old 6.02% 10 21-30 years old 17.47% 29 31-40 years old 22.29% 37 > 40 years old 36.75% 61 Other 7.23% 12 Mitochondrial Disease Voice of the Patient Report- Appendix 1 1 | P a g e Externally-Led Patient-Focused Drug Development Meeting on Mitochondrial Disease 2019 Post-Meeting Online Survey Results Question 8: Please select the answer that best describes the stage of physical disability for you or the person for whom you care Answer Choices Responses Minimal disability. Able to run or jump. 3.59% 6 Symptoms present but mild, able to walk and capable of leading independent life. 38.92% 65 Symptoms are significant. Require regular or periodic holding on to wall or another person for stability and walking. 20.36% 34 Walking requires a walker or other aid such as a service dog. May use a wheelchair or scooter for some activities or to conserve energy. Can perform several activities of daily living. Ability may vary from day to day. 24.55% 41 Not able to walk, uses a wheelchair exclusively. Can perform some activities of daily living that do not require standing or walking. 6.59% 11 Severe disability, dependency on others for assistance with all activities of daily living. 5.99% 10 Respondents Response Date If any additional comments, please feel free to share: Apr 29 2019 I do fall several times a year 1 01:57 PM Symptoms of Muscle pain, and spasms are in the extreme, and I do on occasion have to hold on to a wall, and sometimes fall, but, I can walk Apr 29 2019 2 without holding onto people or a wall, and do not need a person's help, 12:49 PM walker, or cane for day-in and day-out walking. Because of the severe pain levels I do require peoples help generally but not for walking. Apr 29 2019 My mother requires help with most activities of daily living to prevent her 3 11:11 AM from falling down or falling over. Although I feel I have a some what independent life, I do have trouble Apr 28 2019 with my vision and do not drive much at all. So I can no longer work in 4 09:52 PM the profession I was trained to do, (teacher). I am on disability so in many ways I am not independent because of Mitochondrial Myopathy. None of these options apply to me. I'm physically disabled due to fatigue and other problems, not because of an inability to walk. I can't write more than a few lines without my handwriting becoming illegible, for example. I can't do the laundry because while I can walk up a flight of stairs without a walker, I can't carry a load all the way up without stopping to rest. Apr 28 2019 5 So my real answer is "able to walk and capable of leading independent 02:45 PM life" AND "symptoms are significant" AND "Can perform several activities of daily living, Ability varies from day to day" AND "Dependent on others for assistance with MANY activities of daily living". I picked #4 because it best represents my level of disability, even though I don't use a walker or a dog. I do use a wheelchair if I need to do a lot of standing or walking, like in an art museum. Apr 28 2019 Sensory neuropathy with pain and erectile dysfunction. 6 11:09 AM Mitochondrial Disease Voice of the Patient Report- Appendix 1 2 | P a g e Externally-Led Patient-Focused Drug Development Meeting on Mitochondrial Disease 2019 Post-Meeting Online Survey Results While I am still independent, I worry frequently about the future. My symptoms have steadily progressed over the last 6 months despite all Apr 28 2019 efforts to try to improve them. I have been forced to take a leave of 7 01:16 AM absence from work and am frequently unable to perform normal daily tasks at home (cooking, cleaning, yardwork, etc.). At this point in time I'm unsure if I will be able to return to work full time. Apr 27 2019 Under stress symptoms become the Significant category. ( Stress 8 05:45 PM average is 3 times a week) Your looking at this wrong. Your pain scale isn't realistic and does not adequately portray this cruel disease. Or the chronic pain which is disabling. Everyday is different, minus the Apr 27 2019 infections or other systems act I,g up, tormenting pain but can walk and 9 01:26 PM talk one day and not the next. We don't fit into a nice little box. It's hardly a simple anything. You ask questions about a disease you don't understand. Not impressed with the choices. One day walk with little problem and the next day up all night in pain and not be able to walk to the kitchen. Joe was a normal baby and was diagnosed with Optic Atrophy at Age 3 1/2 but could hear and walk. Went to regular kindergarten and used large print. At age 7 Learned braille in school for blind but at age 13 had to change schools to start to learn sign language because of increased hearing loss. Joe has been totally deaf since age 18. At around age 15 Apr 26 2019 was having balance problems. At around age 19 walked like he was 10 09:00 PM drunk. Age 23 started to use a walker with wheels. Age 34 had to use wheelchair but could still transfer himself. At age 49 to present requires nurses aides to help him out of bed and in bathroom and shower. Joe has severe Ptosis and is legally blind and deaf and needs tactile sign language to communicate. He stopped being able to feel braille about 8 years ago but can still braille letters on his brailler. Apr 26 2019 He also has related neurological problems. 11 05:02 PM not able to walk distances that used to be able to walk and although able Apr 26 2019 12 to lead independent life it is much easier to have assistance with most 04:06 PM cooking/cleaning tasks Apr 26 2019 There are days where I am not able to walk and have difficulty using my 13 03:43 PM hands because of muscle weakness etc Apr 26 2019 My capability varies dramatically from day to day and depends on a 14 03:04 PM number of factors. Apr 26 2019 I am able to walk without assistance however I am unable to carry out all 15 02:26 PM activities that would allow me to live independently. Disabled, in a lot of pain, lot of weakness and no one treats it and no Apr 26 2019 16 cure or procedure to help. 01:21 PM Apr 22 2019 CPTII 17 09:47 AM Apr 13 2019 I do have a great deal of pain throughout my body. 18 04:03 PM Apr 11 2019 Exercise intolerance, family/ husband help a lot 19 02:47 PM Mental/emotional health poor. How do you come to terms with your body Apr 11 2019 20 being that of an 85 year old but your mind being 59. Life has ebbed away 10:47 AM from me and now I only exist not live. Mitochondrial Disease Voice of the Patient Report- Appendix 1 3 | P a g e Externally-Led Patient-Focused Drug Development Meeting on Mitochondrial Disease 2019 Post-Meeting Online Survey Results Apr 11 2019 Also visually impaired. Macular dystrophy 21 08:22 AM Wife Julie can use a walker for short distances in house but longer IE Apr 11 2019 22 over 50 meters is too slow and uses a wheel chair pushed by someone 04:18 AM else.
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