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Mamaof2

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Hi,
Thank you so much for taking the time to read this. I have read the stickies here. I am a 34 year old mother of two and cancer survivor with a complicated medical history which has made it difficult to determine what is going on with me medically. First, I have neuropathy from chemotherapy as well as a separate condition, multiple cavernous malformation syndrome which is inherited and means I was born with many lesions of weakened blood vessels in my cervical spine and brain. I also have Hashimotos, though my hypothyroidism seems well controlled with levothyroxine.

After giving birth in May 2020, I began to have tingling in my hands and feet, tongue and ears. After a couple months, my vascular neurologist referred me to a muscular neurology specialist. NCS was normal as was subsequent MRI imaging of my cervical spine, brain (11/20), and entire spine (2/21). In November, I noticed chest and muscle pain, food sticking in my throat, burping, and a feeling of increased saliva in my mouth. I also started feeling an internal tremor in my feet and eventually all through my spine. I saw a hematologist who ran tests for lymphoma and assured me all was normal, except anemia, which I began taking iron supplements for.

In January, I began to have intermittent daily muscle twitching in my legs and biceps which I’ve since felt in my face and torso as well. I had an endoscopy and colonoscopy in February which were both normal other than showing minor irritation, attributed to GERD (which I’ve had for many years), as well as a normal esophogram, though the gastroenterologist said a modified barium swallow and manometry were not warranted and chalked everything up to anxiety.

I also had bloodwork for autoimmune conditions, celiac, AFP (my tumor marker), thyroid, vitamin deficiencies, etc. which were all normal. I had a thyroid ultrasound, pelvic ultrasound, all normal. I saw the neuromuscular specialist again in March and had a normal clinical exam and EMG (this was only done on my left side limbs).

My swallowing symptoms and internal tremor seemed to improve over the next few months, then both dramatically worsened in June. I gained about twenty pounds over the course of a few months. I saw my gyn oncologist the last week of July, who ordered an abdominal CT, which came back normal (decompressed gallbladder was the only noteworthy finding but I was told this is normal). She said everything looks great, no worry of cancer recurrence.

I began to feel like my whole body was vibrating at night when going to sleep, even though I didn’t see it moving. I have perceived weakness but no clinical weakness and I am still able to exercise (elliptical 4x a week for 45 minutes, walks, and usually strength training once or twice a week, though I dropped that a couple weeks ago hoping to help alleviate the internal tremor and twitching). I have been living in fear of ALS for a year and started clonazapam daily in November (I can’t take antidepressants due to my cavernous malformation syndrome) as well as work with two therapists, one specializing in CBT for health anxiety. I am trying so hard to get past the fear and live in the present moment for my kids, but recently routine bloodwork to follow up on my iron deficiency showed not only reversal of the condition after about a year of iron supplementation, but high levels of stored iron (normal level of serum iron) and elevated liver enzymes, ALT 59 and AST 58.

Aside from my terror of a secondary cancer and liver failure, I have read studies showing elevated stores of heavy metals especially iron and elevated ALT and AST levels (which are found in all organs and in muscles as well as the liver), and am now worried about a cancer diagnosis (I noticed two swollen lymph nodes in my occipital lobe and cervical region this week) or a diagnosis of ALS (twitching, muscle spasms, internal tremor, and especially the bulbar sensations of trouble swallowing and the burping) and not sure what my next step should be. My hematologist is retesting the enzymes in October.

I am not sure if I should book another neurologist appointment for September or not. Is the elevated liver enzymes a significant enough finding to warrant this? I would very much appreciate any insight anyone can offer, but please do not feel obligated to reply to this post. I understand the emotional and physical burden of long term illness from my own cancer experience (though I can say the anxieties of the past year have been equally hard as that cancer) and I truly do not want to trouble anyone going through this—I’d much rather be in the position of alleviating the burden of others. At this point, I just can’t trust my own instincts or my own body and feel like I’m getting nowhere despite repeated visits to many specialists as well as my PCP. The more doctors I see, the more I feel I’m being written off for health anxiety only—which I certainly have, while I still worry there is also a serious underlying systemic problem.

Sorry, I meant to write that I’ve seen studies of elevated serum iron, ALT, and AST in people with ALS (though I understand this is non specific; it’s concerning to me in combination with my symptoms).
 
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Nikki J

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Symptoms -Twitching is non specific to the extreme, internal tremor is not a recognized ALS symptoms. Unsure what you mean by muscle spasms but either non specific or unrelated. Burping not a symptom. Swallow difficulties if related would show on the tests you have had Labs re the iron see this Iron Status May Not Affect Amyotrophic Lateral Sclerosis: A Mendelian Randomization Study - PubMed
I could not find the AST ALT studies you apparently read but there are so many causes of these values and certainly lots of PALS have normal values at least until they take riluzole - mine are normal after 7 years of riluzole which can affect the liver.
your emg was normal and your clinical exam was normal. The hallmark of ALS is clinical weakness which you did not have and the gold standard test is an emg. Plus a normal exam says no upper motor neuron signs which are also required for an ALS diagnosis

since your medical history is complicated I hope you have an excellent internist. Allow them to direct your care
 

Mamaof2

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Thank you so much for your response. I really appreciate the link. I actually don’t have a great history with internists, though I’ve been very lucky with specialists. I think changing my PCP is a good place to start. Take care.
 

lgelb

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A daily benzodiazepine has its own down side, so I'd encourage you to make sure you have the right counseling.

I agree that a new PCP might be a good start for herding your specialty "cats" and reconsidering your medications in concert with specialists.

Best,
Laurie
 
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