Starting Diagnosis Process - Terrified

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RealityGuy

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Apr 29, 2023
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Learn about ALS
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Hello All, I am a 38 year old male and father of three beautiful kids. I have been reviewing this forum for a few weeks now. Lots of great information and insight and thank you to all who contribute.

I am almost certain that I will ultimately be diagnosed with this crushing disease even though I have just started the process with my GP. I am hoping to gain some comfort from this forum in dealing with and preparing for the inevitable.

January - started twitching all over upper body. Abdomen, chest, eyes. Attributed this to a stressful event that was occurring in my life at the time. The twitching lasted about a month. Had a physical done around this time and my iron levels were through the roof. Doc was concerned about Hemochromatosis at the time.

Fast-forward to the last few weeks and I've lost about 15lbs in 2-3 months (215-200), 10 of which was in the last 4-5 weeks. After my physical I re-commited to my fitness journey and wanted to lose a bit of weight. Battled some health anxiety the past month as well so was initially attributing the weight loss to a decrease in appetite and more time in the gym. Though on closer look at my body it's clear that muscles have seemingly deteriorated. Back muscles (scapular winging), chest has gotten soft, calves gradually shrinking and biceps. My calf muscles and biceps are showing asymmetrical atrophy. Im swimming in my old clothes. Muscle wasting is very evident to myself and those around me. The twitching have begun again all over my body. I have gotten three concerning 'locked' up spasms two of which were in my lower abdomen and shoulder elbow area during physical activity. One of the abdomen spasms was from a dramatic sneeze.

Recent bloodwork shows elevated CK levels 292u/l and elevated Ferretin in the 500 range.

Overall my strength seems to remain.

If I lay down with my hands above my head they progress to a level of numbness. Last night I noticed I was not able to spread my three interior toes on my right side where as I can on my left. I still can flex my toes back and forth.

Summary of Symptoms
-Muscle wasting
-Weight loss
-Twitching
-Spasms/cramps
-Elevated CK
-Inability to spread right toes

I am in absolute shock and numbness. I understand having to go through the diagnostic process but the symptoms are very strong. The atrophy and muscle wasting are very telling with the marked muscular difference between left calf and bicep vs right calf and bicep.

I have a follow up with my GP on Monday to review bloodwork results and discuss next steps. Likely won't be able to get a neurology appointment for months.

Thanks in advance for anyone who takes the time read and respond to my story.
 
Until you have have an EMG... please ask your GP for help with your
Health Anxiety. So far you are self diagnosing which will only
amplify the anxiety. Again... until you see a neurologist and have an
EMG try and enjoy life with your three beautiful children.

Reading old threads here isn't helping either.
 
Thanks for the response. Definite great advice. Very challenging given how long the full diagnosis process will be with initial neurology appointment 3 months out while my body is changing seemingly daily.

My risk factor is elevated for the disease with exposure to chemical toxins last summer.

My hopes of posting in the forum was ultimately to elicit advice on coping as well as slowing this thing down without access to any of the medication that folks who are DXed have access to. I have been prescribed some meds to aid with sleep and night time anxiety. I feel that my symptoms have accelerated over the past 2-3 weeks the more I lift weights and possibly use of ZZZQuill which affects the central nervous system to assist with sleep.

I sincerely apologize if I offend anyone at all with such inquiries without being diagnosed but the symptoms are glaring and I want to do as much as I can as early as I can.

Any tidbits would be greatly appreciated.
 
Your best bet is to keep working with your doctor with regards to coping. Assuming ALS despite not actually having seen a neurologist is getting way ahead of things. Please understand this forum can't be used as replacement for mental health support, particularly as you do not have a diagnosis of ALS. It can be harmful to try to treat yourself with ALS meds if you do not have a diagnosis and it would be irresponsible for people here to provide you recommendations as you are seemingly requesting. If you are feeling anxious enough for it to affect your daily activities and sleep, your doctor and/or a therapist is way more helpful.

You state 3 months for a neuro appointment. While it may seem like forever, it's not that far off. If you have already been provided a referral and know who you've been referred to, contact their office and ask if you can be placed on their last minute cancellation list- provide how much notice you need and what number is best to contact you by. Also, if your body is changing daily, your gp is perfectly situated to document changes and if they see something truly concerning, they are in a position to expedite referral.
 
We have no evidence that toxins can catalyze ALS so quickly and so young. Many people are exposed to toxins.

It is a bad idea to knock yourself out to sleep, for many reasons, some of which can be loss of appetite and sluggishness. A weight loss diet if not balanced can have similar effects, as can suddenly increasing your exercise levels.

What was your peak iron level? An overload for whatever reason (presume liver function was checked) certainly can cause its own issues and should be explored for cause.

Did your GP identify clinical atrophy that is not secondary to rapid weight loss?

The odds are still very much in your favor and against ALS. As Al says, you don't get to hit rewind in this world, so live your life until you can't.
 
@ShiftKicker will certainly continue to work with my GP. Not looking to self medicate but learn about natural ways to not speed up symptoms if that does exist. Just looking to learn really. I.e limit weight lifting or not to take certain over the counter meds etc.

@lgelb my peak iron levels earlier this year was about 859ul/ml was about 3x normal levels. Ferritin has remained about consistently elevated in the 500s. Liver enzymes were normal range.

My GP noted the visual differences in my calf sizes but upon measurement advised they were ‘about’ the same. Now starting to
Hit my biceps/arms as mulscar structure has certainly changed over the last week. Right bigger than left.

Thank you both for taking the time to respond. We certainly do not get to rewind the hands of time. Which is why I’m attempting to be pro active in this moment. There may not be any answers but i felt compelled to make the attempt.
 
Good Morning,

This is all happening so fast. My voice is now starting to be affected. Lots of throat clearing going on. Feeling of mucus build up in the back of my throat when I lay down. Voice change Confirmed by my wife. Have to really focus on annunciating perfectly to get my normal clarity. The glimmer of hope just seemingly faded away.

Neurologists are booking 6-8 Months out. EMGs in the fall.

My wife and I have almost come to terms with what’s going on. In 4 months I’ve gone from Body wide twitching to recent weight loss and muscle wasting, noticeable asymmetry in calves biceps and back, cramps/spasms, elevated CK (292) and Ferritin 892 (in February) and 530 (last week) in blood work and now my speech.

The evidence just continues to pile up.

What’s clear is that stress and anxiety really fuels this thing. Got some meds from my GP in that department.

In the meantime will re-test CK in two weeks with no workouts to re-evaluate levels.

Anyone have a similar experience? Would this be considered a quick progression?
 
Wow, you are so far ahead of yourself. I'm not sure what you mean by "the evidence keeps piling up." If you mean evidence for ALS, you are incorrect. I would say the evidence keeps piling up that you do not have ALS. You have nothing going on that points to the disease. You really don't. I'm sorry for your poor wife who you've taken down the rabbit hole with you, but you really need to take a deep breath and step back.

Anxiety causes all the issues you described, so between now and the fall, take the meds, get outside and walk, and focus on proper nutrition and good hydration.

Good luck
 
Thank you for the positive optimism and inspiring words. An optimistic outlook would certainly be the best approach.

Just very difficult in reality considering the stakes.

Theres just been no positive signs to cling onto. At every turn things are turning up ALS and I’m sure the group has heard that countless times. This is such a lonely journey. The limbo of ‘hey you could still b good’ and getting an official confirmation good or bad. I’m sure pales in comparison to an official diagnosis.

This is certainly not a community I had on my mind at the turn of the new year. But rather one I want to lean on during this process.

Please bare with me.
 
I’d be more concerned with the ferritin level than any motor neuron disease. Did your doctor address that and what it might indicate? Please go back and ask. I don’t think this forum is where you need to be.

Nobody here is a doctor so work with your doctor.
 
To echo Kim, and as I previously stated, the iron level is an issue in its own right, and nothing else you have pointed to is, on that same objective level. The reasons for a high iron level include cancer, thyroid disease, RA, and liver disease [that your normal liver enzymes seemingly rule out]. So you have good reason to explore your labs and possible needs for rule-out imaging with your GP, completely outside neuromuscular disease.

CK can rise in response to heavy lifting, as you report. Nutrition given increased energy expenditure can be compromised by sleep meds, as I also mentioned.

There's no reason to jump to ALS. Zero. So your stated reasons for being here as regards how to cope or slow it down will make no sense to anyone here.

We would love to hear that you are going to circle back on the ferritin levels, but failing that, there does not seem any other way that we can help.
 

RealityGuy,​


I've been known to be blunt... it's time for you to face your own reality.

You have considerable Health Anxiety... curable. No EMG yet. Without that
there nothing more anyone here can to reply to. Thus... for you to post
anything more is mute. This forum is not here to hold your hand until
you have a neuro exam with follow up EMG.

Please get help (more/better) for your Health Anxiety... for you, your wife
and your three beautiful children.
 
Thank you for the response and bluntness!

The neurologist office advised they will try and fast track my appointment likely in the next two weeks given symptoms.

I understand there’s no hand holding on the forum but it’s also interesting to see how symptoms present, progress and the ultimate outcome?

Symptom Update:

Calves and biceps continue to lose muscle bulk and getting very soft.

Numbness and tingling getting more predominant during the day and not just at night in feet and hands.
Feet feel like they are ready to spasm with flexion.

Twitching continues.

My voice comes and goes.

I would be so lucky if this was just health anxiety.
 
Your refusal to consider alternative explanations apart from health anxiety (an all-or-nothing mentality) when a significantly abnormal lab value and meds/lifestyle changes that can contribute to your issues are staring you in the face makes it all the more unlikely that your serial reports will help either you or others.

Therefore, I'm closing this thread. Please don't start another unless you receive a neurologic diagnosis, but do circle back and get evaluated for systemic illness and a plan to feel better using the tools at hand. If your GP is not up to the task, there are others.

All the best.
 
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