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.

Help is HERE!

I had three medical appointments last week, each good in their own way. The great news is that my meningioma (the benign brain tumor from last year) is all clear, no new growth and my brain bounced right back in to fill the cavity. YAYYY! At least my brain is athletic! So that's fantastic news. I also don't need another brain MRI for another year. 

Getting medical help is very exciting

My neurosurgeon recommended I do 23andMe genetic testing. He said they can be pretty thorough and may find something that we don't know about yet. So that's in the works right now.

The next bit of good news is a have a neurologist that I love. He was super compassionate, a great listener and had a lot of fantastic ideas on how to help me NOW. I told him most of my doctors get so caught up in wanting to find out what the underlying cause of my issues are that they overlook how to help me suffer less today. He was awesome and did both. 

He reviewed my chart, asked questions and went over my timeline with me. He asked about my symptoms and was upfront with what he knew and didn't know. He's an MS specialist and he wants me to see a Myopathy specialist in the same office next week just to talk genetics, but he's all about helping me now. Also many of my symptoms are similar to MS, even if the cause is different. 

The biggest takeaway for me was that he said I have Mitochondrial Myopathy (MM). He said "The two hallmark symptoms of MM are muscle weakness with any kind of exertion" (check) and "Muscle energy crash with any kind of illness" (double check). No one had ever put it to me that way before. I asked him to officially change my diagnosis in my chart and I hope he does so soon. It's helpful for me and to keep everyone on the same page. 

BUT he also had some other ideas and suggestions. First off he thinks my dizziness, foggy brain and vision problems may or may not be connected to the myopathy. He thinks it's just as likely that I'm suffering from "Intractable Migraine". He said with this type of migraine it's more likely that you'll just have my symptoms instead of the classic traditional migraine. He said it's also incredibly common to have this type of migraine after my kind of brain surgery and/or with my myopathy... but bottom line he considers it a different beast from MM. Interesting. 

Bruce wants to help too

Help take a nap that is

Before diving into a new medication for the possible migraine he recommended I try a combination of Vitamin B-2, Magnesium (800mg a day) and Feverfew. It comes in one pill (thank God!) in something called "Migrelief". So I'm giving that a go for a month till we move try a possible prescription for it. 

He also gave me a lot of referrals for services that might help my CURRENT symptoms. YAYYYY!!! I can't even tell you how amazing that was to hear. 

So here were my main takeaways and diagnosis complete with links:

• Intractable Migraine. Could be causing the dizziness and foggy headedness.
• Dysphasia. Fancy name for choking on your own spit like a big dork for no reason.
• Physical Medicine and Rehabilitation. A magical place that will help with my tools and other mobility needs.
• Mitochondrial Myopathy What the neurologist thinks is my overall diagnosis and what's going on with my muscles (due to a genetic mutation.) 
• Speech Therapy For my issues I'm having lately with talking.
• Temporal Muscle. Issues with scarring and muscle tensing from brain surgery last year.
• Therapies for Mitochondrial Disease

(I received no incentive, kickback, discount or payment for ANY of my links.)