25 year old male with worrying symptoms (Long, need advice)

Hilton

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Hello everyone,
I'd like to start by thanking everyone who can spare the time to respond. It really means a great deal and I appreciate you.

My first symptoms began around early February. I had just started my second term at university and I was mostly happy since I was performing well in class. One night I woke up with severe panic with no identifiable cause at the time. I thought I was perhaps overexerting myself a little since I was missing good sleep often to study. Sleep disturbances began to occur almost every night after that. I would wake up around 2 hours into sleep feeling panicked, confused, sweating and gasping for air. Often when beginning to drift into sleep I would be jolted awake by a feeling of suddenly falling. After 3 weeks I was no longer able to function well enough to continue with my course and dropped out, to the shock of my friends and tutors.

Then I began with discomfort when lying down in my chest wall on the left side. Eye floaters are in my vision that are very distracting, my entire vision is littered with cobwebs. Severe headaches, stiff neck, eye pain, flickering and twitching began in my left eye. I decided to see an optician, thinking possibly a detached retina or maybe there could have been clues as to why I am experiencing these symptoms. She found that my sight was slightly worse than my previous prescription and also commented that my optical nerve looked small, but assured me this was nothing to worry about.

The twitching spread to the other eye, but I figured it was due to poor sleep. Then twitching began in my left calf along with vibrations in my thighs which continued to spread. The vibrations are felt mostly when resting against a sofa or mattress but are always there. Bursts of what I have since learned are fasciculations started in the thighs and calves. Over 6 weeks twitching slowly spread to the arms. I saw my GP who told me I probably have anxiety and the problem with the chest was attributed to tension from stress. I prescribed diazepam for my symptoms.

I started to visit my GP frequently after the symptoms continued to worsen. Tingling sensations began in my tongue, left ankle and left tricep. My left elbow, forearm and wrist hurt too. Occasionally I would get electrical sensations spreading up from the back of the neck to my head when touched. The same would happen in the right side of my abdomen. My GP gave me a routine blood test and referred me to a neurologist but the waiting list was up to 6 months. Things were getting worse daily and I began to grow desperate so I saw a neurologist privately (I have no insurance). He did a basic neurological exam and found no abnormalities and insisted that there was nothing wrong with me. He sent me for an EMG anyway as I had begun researching my symptoms and was worried. During my NCS/EMG test the doctors seemed very confused after the first insertion and decided to check my whole body. When I went to my follow-up the neurologist diagnosed me with "Peripheral Nerve Hyperexcitability, possibly Neuromyotonia" he said I should see a psychiatrist and insisted I do not come back. My GP ordered a VGCK antibody test for Neuromyotonia.

I continued to get worse with my left arm trembling with weight applied to it. My legs tremble when walking down stairs but not when climbing up. One day I began gasping for air so much that I called an ambulance. They checked my oxygen level which was fine somehow but the medics saw I wasn't right. I was taken to accident and emergency where I stayed overnight after telling them everything. I had a CT scan checking for a bleed on the brain, which came up with nothing. The nurse was really nice and I felt she was the first person besides my family to truly acknowledge my symptoms were not in my head. She was adamant that I deserve an answer as this had been going on for too long. She managed to persuade them to keep me overnight for a lumbar puncture in the morning to look for inflammation. However the following morning the doctor gave me a brief examination which I think were tests for MS and I was sent home without a lumbar puncture. Since then I've felt increasingly isolated and alone without a clear answer or support for what is happening to me. I honestly feel so defeated.

My appointment I was initially put on a waiting list for finally came around. This neurologist was a lot more understanding and he gave a report containing his results afterwards.
Hilton's affect was generally blunt. At points he avoided eye contact. His detailed cranial nerve examination was unremarkable. Tone was increased with a few beats of clonus in the left ankle. Power was preserved but reflexes were brisk. Both plantars were flexor at edge. There was no obvious muscle wasting but spontaneous muscle activity was noted particularly in the vasti muscles. This does not appear volitional in nature. Sensory examination was normal... LGI1 and CASPR2 antibodies are negative. GAD and glycine-Abs are pending.
Soon after VGKC test came back negative.

He then requested my past EMG from the private neurologist. He then interpreted the results and gave me a report.
I now have this gentlemen's nerve conduction studies/EMG results.

These did show brief insertional activity - mainly positive sharp waves and occasional fibrillation potentials affecting the calf muscles and forearm muscle extensor digitorum communis in both upper limbs. The significance was uncertain; the findings may be part of normal physiological spectrum or a variant of peripheral nerve hyperexcitability.

Importantly Hilton's CASPR2 antibodies, which are most commonly associated with PNH were negative. It sounds like VGKC antibodies may have been sent when he was seen privately. Of note, this assay is not felt to be specific for central/peripheral nerve autoimmune disorders; thus an elevated result does not necessarily imply autoimmune association.
I believe my muscles are beginning to waste between my left pointer finger and thumb, palm and forearm. Breathing is uncomfortable, and dexterity of my thumb is impaired. I have tremors in my hands and playing video games with my little brothers has become more difficult. This is all emotionally getting to me because I genuinely believe I have respiratory-onset ALS/MND and I don't know what to do or say without sounding like a lunatic and being judged.

I wake up every day believing I may die, but no real proof appears on blood tests. My Oxygen levels are usually around 92-95 percent when checked. They say blood pressure is fine. However at home it fluctuates every few minutes by a lot. Sometimes it can be 105/40 other times it has been as high as 190/100. Heart rate is usually 40-60 bpm. What should I do? I feel like I'm watching myself get worse and that I should be doing more, but I am lost.

The only abnormal medical history that stands out to me is that I had a bad case of Glandular fever during summer when I was 12 years old. My parents noted that my behaviour changed ever since then with depressive episodes and a few years later I was diagnosed with Chronic Fatigue Syndrome. I heard the symptoms of Glandular fever are identical to early Lyme disease and is often misdiagnosed. Some of my symptoms overlap with CNS symptoms of late stage Lyme. Also about 3 years ago I saw an engorged tick crawling on my bed while I was there (We have 3 cats). But perhaps I am in denial? Is this ALS/MND?
 

KarenNWendyn

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Hi Hilton. Please read this if you have not already done so: Important - READ BEFORE POSTING! Answers to common concerns about possible symptoms!

Your history is long and complicated but is not typical of how ALS starts. The ocular symptoms don’t suggest ALS, and neither do tingling sensations.

We would be happy to look at the EMG if you could post the actual EMG findings plus the summaries and conclusions. Black out any identifying information.

Respiratory onset ALS is quite rare, especially in someone in their 20’s. If there is any doubt, pulmonary function tests are helpful.

So the story really doesn’t sound anything like ALS.
 

lgelb

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If you're worried about Lyme, your GP can refer you for testing or an infectious disease consult. But whatever it is, I agree that it doesn't resemble ALS at all, nor seemingly did the EMG support.

Your best shot of feeling better is not worrying about how you are perceived by anyone, but reporting your symptoms and proceeding with any recommended testing. As Karen points out, pulmonary testing can confirm or deny whether you really have a respiratory deficit.

And since evidently depression, which can make any physical issues seem all the worse, has been an issue, making sure that you have enough support and treatment for that should also help, even making a change if needed. Sitting at home taking measurements likely won't.

Best,
Laurie
 

Hilton

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Thank you all. Whatever this is, I believe is messing with my judgement. Your perspectives have already helped and I will be following your advice to get those tests. My next neuro appointment is in 6 months which is troubling since this illness isn’t going to wait. I don’t have the actual EMG results, only the report/summary. I’ll update if anything significant unfolds.
Thanks again
 

Hilton

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Hi everyone,
I'm back because things are getting worse unfortunately. My GP checked B12, Folate and Vitamin D levels. I was told my Vitamin D is low. Before the test he suspected my ribs were inflamed (Costochondritis). I bought an ELISA test myself for Lyme and it came back negative.

Fasciculations are worse than before, I even feel them inside my abdominals.
I'm seeing very tiny vibrations of the muscles in my hands too.
My bones are aching often. Mostly on my left side but in my wrists, elbows, underarms and ankles.
I'm becoming more breathless and often hear whistling. The breathlessness makes basic tasks tiring.
My left leg is stiff and I noticed that I'm subconsciously avoiding using it as much.
Left ankle feels cold and bare.

The ocular stuff is still there. More odd stuff is happening that I think may point to something else but I have no ideas.
Occasional nausea and really bad bowel problems.
Burning sensations when touching the back of the neck and sides of my head.
Patches of red dots on the skin which look like petechiae and itchiness.
Recurring sores in nose and spots on the roof of mouth.
Easily startled, with a delayed reaction involving noticeable nodding/back jerking.

At this point in order to stay sane, I've become morbidly curious about finding the answer.
 

KarenNWendyn

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Please reread through the “Read before posting” link I gave you above.

Nothing you describe has anything to do with ALS. Ignore the twitching. It means nothing. Ocular, GI, sensory, and skin symptoms have nothing to do with ALS.

This forum is here to support people with ALS, their caregivers, and people who have lost loved ones to ALS. It is not intended to be a general health or anxiety forum. Please keep working with your doctors on your symptoms. You’re in the wrong place here.
 

lgelb

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Again, respiratory function/how well you breathe is something that can be measured. Your GP can refer you for lung tests or to a pulmonologist who can do the tests. That's the call you should be making.
 
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