Asked for Help

I've definitely been feeling stronger and having more stamina since returning to the gym. I walked the dogs yesterday. A walk that I could barely do a month ago. One that left me in a lot of pain was suddenly (dare I say) EASY for me. I've also been able to stand still longer. Something that was incredibly difficult for me just a little bit ago.

Back in November I was seriously worried I would need to use my big chair again. Not that that's a bad thing. But it just means my muscles were very weak and I was feeling like I might need the extra help. We started bringing my travel chair with us wherever we went.  

All of this is leading me to weight loss.
I'm not going to the gym for weight loss. But to be stronger, more flexible, keep my muscles from atrophy and for my mental health. It's a special time set aside just for me and my body.

But I'm also not stupid. I know that the less weight I have, the less strain on my already compromised joints and muscles. 

My food craving have been just horrible as well. You would think the more I indulged them the quieter they would get? But I really think the opposite is true. So I asked my doctor for help (now I sound like one of those awful commercials.)

 My beautiful $149 pill bottle 
(with personal information omitted)

But I really did though. I asked if I could try the new Wegovy weight loss pill. All the others until now have been injections. I did try Zepbound injection a while back. The side effects were awful. I just felt like my digestion completely stopped.

I'm hoping that the brand and delivery change will be helpful. So far I have noticed a bit more burping and farting. But then again I am old. Hahahah. My doctor said she only had one other patient on it and that they were doing very well. The pharmacy told me that I'm the first for them and I'm to report back how it goes. So I'm a bit of a pioneer.

 LOTS of warning labels, but this aint my first rodeo.

Last night I had bad dry mouth. But that could have been from my fan blowing right in my face or allergies. I get dry mouth a lot, but it hasn't been that bad since I took Baclofen three times a day for muscle pain.

I hate to say it, but at 3:30 when I couldn't go back to sleep I paid the Devil his due (Amazon) and signed up for a one month prime membership. Just so I could get my dry mouth tablets (Zylomelt) delivered next day. I needed them bad for tonight. I'm not doing that again. Although I HATE giving the big A any money, my health needs come first.

 My nightly ritual

I was a bit stunned to learn you have to take Wegovy in a very specific way. First thing in the morning with 4oz of water exactly. Then you must stay upright for 30min. You can't eat or drink anything while the drug is absorbed in your stomach.

I measure out my water the night before and set the bottle next to it. Right after I take it I set a timer for 30min and keep myself busy. Blog, walk the dogs, write in my journal, tidy up. Man when that alarm goes off I am READY for coffee and water.

You're also supposed to have tiny meals, the first one being bland. Like a dry piece of toast or crackers or something. I'm already finding myself eating very small meals through the day. I think that could have been one of my mistakes on Zepbound. I didn't change my eating at all, then all that food just clogged up my gut.

Like the pharmacy, I'll report how it goes. 
Today is day 3. 

 

New Diagnosis

I saw my new migraine neurologist yesterday. He's changing one of my migraine medications. He's also hopeful that I can keep on my current medication and just add Botox back into the mix. He's trying to get it approved with my insurance right now.

He also said that he thinks I'm having "silent seizures." That was big news. This past year I'd been having a problem where I smell cigarette smoke and I'm not around any. It lasts days, one time it lasted about a whole month. I haven't had it happen since September, but I still brought it up.

He said given the location of my craniotomy and my symptoms he thinks it's seizures. He said it's quite common due to the scar tissue and brain injury. No one told me about that. I looked it up when I got home and he's right. It is fairly common, even 10+ years after your craniotomy. 

He ordered an EEG and wants to start me on Keppra to keep the seizures from growing. He said it's like a little forest fire that we want to contain before it gets out of control. 

I had no idea that's what was happening. My husband was skeptical and thought he might be seeing something that wasn't there. But he was positive enough to get me started on Keppra right away. 

This weekend is my mom's big 70th birthday. We're going away to the city for the weekend with her girlfriends. I'm very excited about it. So I haven't really processed this news.

Looking back on my blog I've had many diagnosis through the years. A few of them even stuck! Mitochondrial Dysfunction, Brain Meningioma and now this. Thank the Goddess I didn't really have Rheumatoid Arthritis. I think there's plenty going on.

I don't think it will feel real until my medical chart is updated with the records and a new diagnosis. Meanwhile, I started the Keppra. Don't want that fire to spread

Disease Management

There are many ways that I have learned to manage my disease over the years. Online resources have been hugely helpful. Back when I was on Facebook, belonging to a support group there led to some helpful suggestions.

This website has also been a fantastic place to gain insight and knowledge, even on topics like sex as a person with Mitochondrial disease. My Mito.org

Of course my mobility tools have been key. The unpredictability of this disorder can cause me a lot of anxiety. I don't know how long I'll be able to stand or walk on any given day. Keeping tools in the car makes that anxiety much less and sets me up for a successful outing or vacation. 

The biggest way I manage my disease is with medication, supplements and rest. Electrolytes too. I used to try to push myself through a day without rest, only to find I'm then over-tired at night and have a lot of trouble sleeping. If I take the time to rest I have a much better evening and better quality sleep at night. Strange, I know.

My medication is pretty dialed in now. It has been for over a year. My migraine management is the only thing that changes occasionally. 

Of course there are other things that "help." Like making meals simple. I typically just have a protein bar for breakfast. Even though my husband says that's not a breakfast, it's a snack. My favorite go-to dinner is a chopped salad kit (easier to eat than a normal salad) with faux buffalo chicken on top. 

Keeping positive and managing my mood is important as well. Talking with my husband and other family or close friends is therapeutic. I don't keep things bottled up anymore. Managing my stress is also helpful. 

Attending regular appointments to measure things like my breathing, heart and neurological symptoms is a must. I have from two to four appointments with my muscular neurologist a year. Four with my migraine neurologist (though I'm in the process of seeing a new person, so there's been a massive delay with my next appointment.) I see my primary care about three times a year for various things. Then usually some kind of specialist a few times in the year. A dermatologist or gastroenterologist. Urgent care is for things like I can't get my "bad ear" unplugged and it's starting to hurt, or a I have a UTI (happens about twice a year.)

Honestly just knowing what to expect and why something is happening to me has been incredibly helpful. Like the last time I went to the ER after my flu vaccination. Now I know if that happens again what it is, what to do and what to expect. I won't just be crying my eyes out scared to death.

Managing any disease is very complicated and time consuming. All consuming really. Now I need a rest. 

Another eye infection

AGGGGGG!!!!

I woke up Friday morning with another small stye on my left eye. This time on the upper lid. I already had a televisit with my doctor scheduled to get some more Diamox for our upcoming vacation. So I let her know that I'm having recurring stye issues. She ordered me some prescription eye ointment. 

Two days later and it was looking much worse. So I did a Teledoc visit and he prescribed me some oral antibiotics. This morning it looked even worse.

I know I can be impatient with my body, but I'm really expecting it to look a little bit better by now. 

I can feel the swelling pressing on my sinuses and the back of my throat. The ear, eye, nose and throat really are connected. You have but to experience an issue with one to feel it in all the others. Luckily my ear is fine. Hahaha.

I've been doing hot patches, cold patches, gentle wash in the shower. Everything I can think of. Drinking lots of liquids, taking Ibuprophen for the pain. At least today it feels a bit less painful, even if the swelling is worse.

Since my last stye I have been:

• Changing my pillow cases weekly
• Not rubbing my face on my dog
• Washing my hands any time I touch my face (that I know of?)
• Washing my eyelids gently in the shower with baby shampoo
• Using clean towels every time on my face

I honestly can't think of what to do more? I just need to be super careful I guess. I'm suspecting it's wearing my contacts that could be a trigger. But my hands are always clean when I put them in or take them out. Maybe I'll start to wear them only on special occasions?

My poor hysterical body.

Any time there's an infection or a reaction my muscles also shut down. I am very physically weak right now. I'm also exhausted. So... tired... So I'm spending a lot of time resting. But I'm not convinced that laying flat down is what's best for my eye. It feels like everything needs gravity to drain?

What a mess I am.

Assessment and Plan

I am one of the few lucky ones.

I had my mitochondrial disease diagnosed fairly fast. I was believed and not gas lit by either my primary care doctor, nor my neurologist. I quickly worked my way up the neurology ladder until I was seen by the Chief of Staff himself who was the one to recognize my symptoms and diagnose me, even before I had my muscle biopsy and genetic tests. 

I also live in a place with world class health care. I am incredibly fortunate.

I have been seeing my "Muscular Neurologist" Dr. Lisa Williams at the UC Davis PM&R Clinic (Physical medicine and rehabilitation) for about six years now. At first she saw me every three months, now we check in every six months.

My favorite thing about her is that just like my handyman, she always has a plan. I come to her with a list of concerns and she comes up with a plan. I just saw her yesterday and this is my plan for 2025...

 Assessment & Plan

Mitochondrial Myopathy

Exacerbation of fatigue and severe weakness after flu vaccine. Generalized muscle fatigue without pain or cramping. Right side weakness reported. Stable with dietary modifications (medium chain fatty acid).

-Continue dietary modifications.

-Continue CoQ10 300mg three times a day.

-Continue Amantadine 200mg daily (refill 90-day prescription).

 

Dysphagia

Increased difficulty swallowing, particularly with soft solids. Choking reported. Last swallow study was normal. Referral to ENT for repeat swallow study.

-Continue monitoring and follow up with ENT for swallow study.

 

Migraines

Managed with new medication after discontinuing Botox due to side effects.

-Continue current migraine medication and follow-up with neurology.

 

Asthma

Increased symptoms over the past six months, potentially due to poor air quality.

-Continue current asthma management.

 

Neuropathic Pain

Severe, particularly at night. Pain is diffuse, intense, and worse with movement. Pain is primarily muscular. Current medications (Lyrica, Duloxetine, Amantadine) provide some relief.

-Consult with Dr. Chinar Sanghvi regarding potential innovative treatments for pain control such as buprenorphine or IV ketamine.

 

Impaired mobility and ADLS:

Foot Drop

Managed with Ankle Foot Orthosis (AFO) brace and soft brace for shorter distances.

-Continue use of AFO and soft brace as needed on the right. Strength stable today.

 

General Health Maintenance

-Consider low-intensity exercise classes for neuromuscular exercise.

-Consider use of a cervical pillow for neck pain.

-Follow up with sleep study results and potential need for CPAP.

No way am I going back to using a CPAP machine by the way. I get it for people who really need them like my husband. But I don't fit that category. 

Dr. Williams cares about my quality of life. She also learns a lot from me. She had another patient with similar genetic mutations try a "short chain fatty acid diet" with great success. I'm pretty sure I'm a paper somewhere.

My own plans this year include knowing my limits and paying better attention to them. Not pushing myself to "do all the things" and just try and be as healthy as I can be.

Same Symptoms, Different Day

I used to keep a running list of my symptoms and share them with all of my medical providers at each appointment. This was helpful in the beginning because we had no idea what was wrong with me. When I started the quest for a diagnosis it was 2018 (2 years ago) and we were thinking it could be rheumatoid arthritis? An autoimmune disease? All I knew was I had a lot of pain that left me crying at night.

What it turned out to be was:

• Stocking glove pattern neuropathy
• Benign brain tumor
• Metabolic/Mitochondrial Myopathy

I also had a complete hysterectomy in 2015 due to major reproductive health issues.

I assumed at the time that my problems were mostly neuropathy (that I believed was caused by my Latent TB treatment the year before) and autoimmune. My symptoms were all pointing to RA being the main culprit. But then the sudden muscle weakness hit. From one day to the next I suddenly lost about 80% of my strength.

It took a very long time and many referrals to solve the riddle of my muscle weakness. The current consensus is that my mitochondrial cells (the power cells of the body) don't process energy correctly. I have 3 genetic mutations that have been identified that could be the cause. All of this is pretty new science so everyone is really just doing their "best guess." I've learned to be the expert in me.

Unfortunately either the brain surgery that I had in 2018 or my Mitochondrial Myopathy have cause me to also suffer from Vestibular Migraines. Shockingly these have been more crippling than my myopathy. So if you're keeping track it's:

• Vestibular Migraines
• Metabolic/Mitochondrial Myopathy
• Stocking glove pattern neuropathy
• Osteoarthritis (and possibly RA)

It's been about a year since I posted my symptoms. I also don't really keep track of them anymore. There's a few reasons for this. 

1) I'm tired of talking about it, looking at it and only being a "sick person."
2) My symptoms haven't really changed.
3) It's more useful to alert my healthcare team about NEW things if/when they come up.
3) New symptoms can get buried under my massive list of health issues and get overlooked by my doctors.
4) I have a great team who keeps good records of my health diagnosis, visits and concerns so it's a bit redundant at this point.

Rather than bringing in a list of symptoms with me now to an appointment, I bring specific concerns and/or questions that I have. I always take notes and I very very rarely go alone. This helps make sure I don't miss anything (as my memory can be a serious issue).

When I look at the list of my past symptoms I still have all of them. However, I also have treatment that helps me manage them. I feel positive that I will soon have treatments in place to help 100% of my symptoms be bearable.

Desperate for help

I've been messaging with my doctors for the last month about my increasing pain. I've shared my struggles with neuropathy in my arms and legs, especially at night. I've voiced how I feel like I'm being pulled apart on a torture rack. I've stated that my pain makes it very hard for me to complete simple tasks and leaves me chronically exhausted. And then there's the afternoon crash. Missing out on three hours of my day regularly.

The Epicacten did help with this crash, but it left me feeling like a jet lagged tourist who downed a bunch of espresso to try and stay awake. Foggy headed and still exhausted, but unable to sleep. Not really much of an improvement. 

My primary doctor increased my night time Lyrica dose and that did help the neuropathy a bit. My muscular neurologist increased my Baclofen from three times a day to four to try and help the muscle cramps and spasms that were also increasing, but it did not help. That's how medicine goes! Sometimes things work great, but often they do not.

Then I did what I do best. I started researching some more on my own about Mitochondrial Myopathy and mito diseases. And there it was. The exhaustion, the pain, the neuropathy, everything I experience. What I also found was successful interventions using marijuana to combat the fatigue. 

In the past I've tried high CBD with little to no THC and it never did that much. It could help with night pain a bit, but never enough to warrant the cost. It's not like my insurance covers our (legal in my state) dispensary! Too bad. 

Due to my previous lung conditions and my asthma I've never tried any kind of inhalation, only edibles. But the more I read the more I learned about vaping and how it is better than edibles for pain and energy in many ways. It's instant, you can control the dose better, it's more cost affective and best of all the drug doesn't go through your liver and kidneys, but straight into your blood stream from your lungs.

I researched the best strains for energy and pain. Then armed with this knowledge we went to the dispensary. The employee was very helpful and set me up with a vape pen, cartridge and night time pain gummies to try. She also helpfully explained that if you're trying to help pain you need THC. "Without a little high you can't get rid of pain effectively". 

I'm going slow with it and learning what works best for me, but on the very first day of using it I didn't need a nap. Last night I didn't have the gummy and for the first time since I started taking it I had painsomnia. I'm now going on day FIVE with no mid-afternoon crash. It feels amazing. My pain is also much more manageable. It isn't helping my mobility or muscle issues, but the pain and fatigue are very much improved, so I'll take it!

A doctor of mine did get back to me with another medical suggestion. The medication would involve a hospital stay and the side effects were very risky. For now I'm good with trying what I have. If it becomes a permanent part of my coping tools, then I'll inform my doctors about it. But for now I'm still in the trial phase.

This is by far the best recommendation list for dealing with exhaustion. Shared from the Mito Action Group. 

General Guidelines for Dealing With Fatigue:

Rearrange Your Environment

• Keep frequently used items in a location where you will use them. This avoids having to carry them around or do extra walking to get them.
• Replace existing heavy items with lighter one (plastic vs. glass).
• Use good body mechanics – don’t carry equipment if you can push it. Slide, don’t lift, push, don’t pull. Maintain good posture. Bend at the knees, not the waist. Eliminate unnecessary motions. Use both hands when possible while carrying. Adjust work-spaces such as raising a tabletop to eliminate awkward positions.
• Install long handles on faucets or doorknobs.
• Consider moving your bed to the first floor to eliminate stair climbing.
• Organize the kitchen for maximum efficiency. Place the most often used items on the lowest shelves. Make a cooking area having all pots and pans together close to the stove. Spices and utensils should also be as close to the cooking area as possible. Consult an occupational therapist to help personalize the ideas listed here and enlist a helper or two to rearrange your living environment.

Eliminate any Unnecessary Effort

• Sit rather than stand whenever possible, i.e.: when preparing food, washing dishes, when talking on the phone.
• When dressing, sit, have your clothes at arm’s length, dressing the lower parts of your body first as this requires the most energy expenditure. Bring your feet up to you rather than bending down to them. Work slowly and methodically, resting when needed. Buy clothes that are easy to care for and put on.
• Shower using a shower chair, remain sitting when shaving your legs instead of bending over, have a chair in the bathroom so you can sit while drying yourself.
• Use adaptive equipment that is appropriate to your situation, i.e.: book holder, a jar opener, a reacher, text to speech software or hand-free headset for your phone.
• Organize the method in which you work, repetition of the same methods will increase proficiency and save time and energy.
• Soak your dishes before washing, let them air dry or consider using paper products.
• Buy prepared foods and try to keep prepared healthy snacks available such as precooked hard-boiled eggs, cheese slices and fruit.
• Shopping can be an exhausting activity so try to find a grocery store that accepts phone orders and delivers. A few large grocery chains have online ordering and delivering. If you go shopping, use electric carts or wheelchairs, which most large grocery stores make available. Other items are available from catalogs by mail, phone or the Internet. Take advantage of these effective alternative ways of shopping. Think of how many stores you can visit without leaving your chair!

Plan Ahead

• Pre-plan your activities and try to make a daily or weekly schedule.
• Ask yourself a few questions: Is there too much to do on a single day? Are heavy tasks alternated with light ones? Are heavy tasks distributed throughout the week? Have I scheduled enough time to for activities with enough time between each one to rest? Rushing takes more energy!
• Make fewer trips around the house; if you have stairs, organize your day so you minimize the need to climb them.
• Cook in larger quantities and refrigerate or freeze extra portions.
• Work rest breaks into activities as often as possible. Take a break before you get tired.
• Try to plan some type of exercise into your weekly routine. Toned muscles require less energy to function.

Prioritize

• Eliminate or reduce tasks that aren’t that important you.
• Remember to delegate tasks to family or friends who offer to help.
• Consider hiring professionals, such as a cleaning service or lawn service, to cut down on your workload.
• Decide  what are the most important things in your life and spend your energy money on them.
• Always listen to your body, know your limits and don’t let yourself become overtired.

If you do overdo it, try not to be too hard on yourself. Walking the mito path is very challenging and learning how much activity is too much is sometimes determined by when we crash! The goal is to live a rich and full life with the least amount of mito crashes as possible.

February - Where I'm at

I'm not kidding when I say I'm a full time patient. In one day I had three medical appointments. In one of them I learned the joys of what barium in all its forms tastes like for a Barium Swallow Test. 

(And why is the woman grinning madly? Why it's because she's trying not to vomit while holding massive amounts of barium in her mouth of course!)

Don't throw up or you'll have to do it all over again!

I also got to have this lidocaine nozzle shoved up my nose before a camera tube followed. Who knew they look at your throat through your nose? Now I sure do! (Kidding, he didn't "shove". He was very gentle and I'm being dramatic because I can.)

This was the petite nozzle that went up my nose. 

Only about 4 inches.

TAH DAH! My voice box and surrounding muscles. 

See the resemblance?

The tests all went well and they found some interesting things. Myopathy that affects my voice and muscles in the back of my throat that tire just like the ones in the rest of my body. They want me to see a speech therapist to get trained in some lung exercises to help protect me from pneumonia. I asked if I could just blow bubbles and pinwheels instead and the dude didn't even crack a smile. Doctors are just too serious sometimes!

So here's medically where I'm at:

• Referral for EMST (fancy for lung stuff) through a speech therapist
• Occupational therapy for my tweaked shoulder
• Occupational therapy to maintain muscle strength (even though strength isn't my issue, it's stamina)
• March 11th is my neurologist consultation for Botox for migraines (not the actual procedure. Hold your horses Ms. rushy rush! You have to be consulted first!)
• March 19th is when my wheelchair will finally get picked up for the modifications I've been trying to get since October (a higher headrest and knee abductors)
• March 22nd I check back in with my primary care doctor about everything
• Working on getting a nebulizer for home after needing urgent care and the hospital last year for breathing issues (mostly after travel)
• My teeth are clean, but I need a few procedures, so that continues in April

But what about FUN!? What's going on that's NOT related to medicine or illness?

• I'm enjoying the new show Lego Master with my honey
• My mom and I have a blast at our weekly Trader Joe's run
• I try and take Sweetie out every day, even if it's just around the block
• Daily I sit on my shower stool and pretend to be a mermaid while in the shower
• My husband and I are going to a Capitola beach house with friends in early April for the weekend
• My mom is taking myself and my son to Monterey during his spring break (one of our most favorite places in the world!)
• I just planted a little herb garden by my door
• The nature here is already springtime beautiful! I try and get out in it as often as possible
• I painted my toes rainbow and they make me incredibly happy

The A Team

It's all coming together now. The "A Team" is assembled and ready to fight my Metabolic Myopathy. 

I'm so happy I could burst!

Yesterday I had my much anticipated appointment with a place called PMR (Department of Physical Medicine and Rehabilitation). There I met a fantastic doctor who not only had heard of my condition, but has other patients with the same thing across a spectrum of disability. 

She heard me when I talked, had read my chart ahead of time and had fresh insight into my care. It was so wonderful I almost cried. She reviewed my tests and records with me and took a baseline of my lung functioning. Something no other doctor had done before. She ordered some new labs for me and gave me recommendations for things to try.

At this clinic I will be assessed and followed for future mobility tools that will work the best for my needs and body. I'll also be connected with the MDA (Muscular Dystrophy Association) for additional resources. During my appointment she shared that there are 600 discovered muscle diseases related to MD as of right now, but more are being discovered all the time. FINALLY! FINALLY someone agreeing with the research I had been doing for years on my own and offering me real help. 

So now I have a great neurologist, this new knowledgable neuromuscular doctor, my fabulous PCP (Primary Care Physician) and my patient advocate who helps coordinate my care. My husband and I call them all "The A Team" (because 1-It's funny and 2-My name starts with an A).

Knowing that I have medical professionals who understand my illness, are looking for ways to help me live my best life and who listen to me is such a relief. It took about two years to get to this point and a TON of work on my part so I'm savoring this feeling of being helped and supported like never before by my A Team.

Pain

I hate that question that the nurse always asks at every doctors appointment. "Are you having any pain today? Where? On a scale of 1-10 how bad is it?"

Pain is subjective, personal and really hard to measure. I'm always in pain, everywhere. I can't remember a time in my life when my back didn't hurt. My best friend growing up knew this and would rub my back when I asked her to (the sign of a TRUE friend.)

A real friend has your back... Literally

I take Cymbalta 60mg every night for joint and muscle pain. It helps tremendously. I also take Lyrica twice daily for neuropathic pain. That also has been a life saver. Occasionally I'll take Acetaminophen if the pain gets too bad. Ibuprophen is supposed to help with inflammation, but I haven't found it to be useful for my pain. I'm not interested in taking anything else for pain management medically due to the risky side effects and dependence.

Pain has always been a part of my life but I'm not ruled by it. I find new symptoms much more disturbing and disruptive. Like the chronic dizziness, lack of stamina, weakness, etc... 

I long for the day when we can all just be scanned and have a report come out saying exactly what's wrong with us. Then a machine will pop out one pill that you take a day that will fix everything. I mean they did it in Star Trek! Why isn't that a thing yet!?