Off to Mayo Clinic at 27

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ErinDav

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Hello,

I can’t believe I’m here writing this but I think it’s time I open up to people who may have a better understanding of what I may possibly be going through, and I graciously thank you for your time and attention to my post.

I am a 27 year old female, I promise I am not an over anxious young person.

I grew up overweight but athletic, I played softball for 10+ years, marched in marching band and played the saxophone for 10+ years. Once graduated high school I became obese and wanted to lose weight and started running, gradually increasing to 2.5 miles a day 6 days a week and lost about 35 pounds. Eating correctly, ect.

About 2 years ago I began noticing weakness in my right leg. for example, if I were able to lead with my right leg to get up from a squat I could not do so. I brushed it off, I worked 2+ jobs and went to school. I was just busy and tired. It progressed into my left leg and I started struggling getting up a set of stairs, getting up from chairs and squats so I saw my GP who ran some blood and everything looked good except a low titer RNP ANA antibody. I was sent to a rheumatologist. I worked with her for about a year, several does of steroids, immunosuppressants, anti inflammatory medications. She ordered a spine mri to see if anything was compressing that would cause such strain in my legs. Spine mri was normal, she referred me to a neurologist because she has explained if it was autoimmune, everything they put me on what have given me so relief.

Over that year I saw 3 neurologists who told me my neuro exams were normal, and my Brain MRI was normal. I will say that they were very dismissive and once I reached my neuromuscular specialist, I was aware of just how dismissive they were. My neuromuscular specialist began with my exam with was normal except my reflexes tested at 2+ and 3+ he was confident I was dealing with MG and we went back on prednisone and mestinon This did not improve my symptoms.

At this point the weakness has spread to my back and shoulders. No longer able to hold any weight over my head, having dexterity issues such as not being able to turn a key. My biceps and triceps are spastic and I have loss full range of motion on my shoulders, hips and knees. Stretching feels good, but as soon as I am done my muscles are tight and I cannot move them without pain. I have persistent fasciculations in every part of my body, hands, feet, shoulders, lips and my tongue as well (yes even at rest) it looks like little worms in my tongue. I have trouble chewing, it feels like my neck and underneath my chin are lifting weights just to chew. I am having to stop and take a break and leave the food in my mouth and then I swallow, which has become hard. My speech has changed and I have worked in retail for 7 years. I am frequently being asked to repeat myself as they couldn’t understand me, my tongue feels heavy and the back will feel like it’s working out as I speak. My voice is thin, horse and stretched. My family noticed first but now my coworkers are as well.

I was trying to run about 10 feet to safe a turtle from the road and my legs collapsed and I could not get up for a few minutes. If I trip or stumble, my legs collapse and cannot support me. I have a hard time walking barefoot as my toes dig into the ground, it seems like they are trying to help my legs keep steady.

My neuromuscular specialist has ruled out MG, metabolic myopathy, cancer with pet scans, my calcium, vitamin b12/d are normal, my nerve conduction study was normal, my one EMG was “borderline abnormal” which prompted him to set me up for a single fiber emg which came back normal. My muscle biopsy if my thigh showed small groups polynomial muscle atrophy but that was it. He told me that whatever I have is very very very rare and he recommended me going to Mayo Clinic for a diagnosis but he did not say of what. I took about 8 months and decided to get a second general practitioner opinion which led me back to the neuro so I called Mayo. My neuromuscular specialist sent over my records to them.

I am nervous for my appointment as Mayo Clinic took all of my reporting and accepted me and got me scheduled with in 3 weeks of my initial contact with them with a neurologist named dr. Shah, his clinical interest are als and metabolic Myopathy. I have now lost over 100 pounds and the structure of my body has changed completely. I can’t squat, I cannot get up from the ground unassisted. I am having a hard time counting money, my hands will cramp and I have to stop and rest them.

I am nervous. I am young and this shouldn’t be happening. I have a large family but I don’t know any of them. Mayo is doing genetic testing as well as an emg. My appt is 11/11 and 11/12.

I have a hard time believing that this disease would affect me, a female at 27 almost 28, but nothing else is coming about? I have had a echocardiogram, normal. PFT was a little lower than normal but nothing that concerned my GP. I’ve had a mammogram, ultrasound of the abdomen, petscans and mri of the brain spine and thighs. All normal. Borderline abnormal emg with a referral to Mayo Clinic.

Should I be worried? I take Xanax daily so the twitching isn’t anxiety, or an ssri either. I’ve tired everything.
 
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Nikki J

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Clearly there is something wrong andI am happy you are going to Mayo. There are many obscure neurologic conditions so please don’t ask the doctor to focus on ALS. Let him lead the investigation. Do you have your emg report? In what way was it abnormal? They can be abnormal in many ways and often abnormalities actively point away from ALS. It obviously did not show a clear ALS pattern at the time. If you care to share deidentified charts and summary from it we might comment better
 

lgelb

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If you care to post the EMG, we could be more helpful, but to me it sounds like they are looking for an adult-onset myopathy or spinal muscular atrophy (a serious motor neuron disease but not as devastating as ALS) or something in that spectrum. Some would be expected to respond to steroids for a while at least but there are hundreds of conditions in that area, many of them rare and/or genetic, and not all are inflammatory. If it is SMA, for example, there are new drugs for that.

I don't know how much or how often you are taking Xanax, but as you know it's sedating, people develop the need for higher doses, and can cause falls/inability to do things and cause changes in sleep architecture. If it's helping in some way, you might discuss safer alternatives with your doc. If it's not, I would discuss tapering/discontinuing it.

Best,
Laurie
 

ErinDav

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Thank you, that is one thing I’ve done is shy away from talking about ALS really with anyone, and all of the doctors I’ve seen I have not mentioned those three letters to them because I feel like it’s almost impossible for it to truly be this disease.

It’s interesting you are asking for the emg report as I didn’t get a report such as what my doctor looked at. To be clear I have only had one EMG done, he tested my thigh, my bicep and shoulder. It lasted about 6 minutes.
I am getting an updated one on 11/12 from Mayo Clinic neurology in JAX anyway.

I am looking at all of my reports from Dr. Rosario of St. Anthony’s neurology, the final emg report that went to Mayo says “no evidence of myopathy, right lumbosacral radiopathy, or polyneuropathy, no evidence of autonomic dysfunction”

The emg report I initially received prior to the Mayo Clinic referral said the above but included “normal motor unit morphology, recruitment and interface pattern throughout”

That was taken out of the report that was going to Mayo after a follow up Neuro exam that showed my deep tendon reflexes were 2 and 3+ (It had been a year since my first neuro exam) do you think he possibly did that for a second opinion?

I forgot to mention that I have a problem with yawning as well. I won’t even be tired and all of a sudden I am yawning 30+ times In span of 5/8 minutes. I will be at work (retail manager) trying to hold a conversation with a customer of mine and it is impossible if they start. I find that eating food will help stop it. It strains my neck and jaw big time.


Thank you both for your responses.
 

lgelb

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You have the right to all reports and findings, and it's best to keep your own file of those, but the report excerpts you cite both sound clean, which calls ALS and many other disorders into question.

Again, Xanax can cause yawning, but so can things that hopefully have been ruled out beyond what the MRIs should have, like sleep disorders, cardiovascular/liver disease, and diabetes. Have you ever tried using a pulse oximeter during yawning episodes? If you saw changes in pulse/sats during/after, that would be something to tell your internist.
 

ErinDav

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Hey there, I had a few days before I could post again.

Thank you for that information. I called and left a message for my neurologist to upload my EMG to my portal so I can take a look at it.

I kept forgetting to mention that my Xanax dose is very low, .25 mg and I do not take it everyday, only when my anxiety gets debilitating which is not often anymore. It has been 5 days since I have even taken any dose of it.

All I’ve ever worn is an Iwatch which I managed my heart rate with. I’ve had a normal echocardiogram, slightly lower than normal PFT. No masses on my chest spine or brain. The yawning gets awful regardless of how tired or not tired I am.

I also forgot to mention that I am waking up in the middle of the night, every night coughing, choking and not being able to breathe. Even when I prop up. My friend stays over a lot and she helps me with it by pounding my back, I think it helps break mucus or Saliva down and helps me cough stuff up, not sure.

My hands and forearms are feeling like a workout typing this. I have to stop, rest and then continue.

At work on Sunday, I was doing a training session with my team that required me to talk, I had to take several breaks, my swallowing was very slow, heavy.

When I am sitting of my friend, dog or partner even lightly taps on my upper thigh it activates the reflex to the entire thigh.

I am 15 days away from Mayo Clinic in JAX.
 
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