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dasht

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Hello, I am new to this forum, and wound up here after experiencing another symptom that I have recently had in a list of others to keep pointing me to ALS... I am currently un-diagnosed, but have started clinical testing. I'm hesitant to continue because I personally can no longer afford the "investigative" medical practice that my insurance does not cover.
I'm also hesitant to discuss my thoughts and history since some of my family members currently do not know the symptoms I experience, but feel it was time to reach out and listing it all is a good form of personal therapy. I do not know the formalities of the forum, so I'll just start with my history.

Male, 33. Growing up, I have always experienced limitations with my legs. I noticeably had/have an irregular walking gate, and could not kick up at a 90 degree angle, much less a 45. However I could bring my legs in towards my chest with ease. My parents never took me in for testing, even though I recall numerous occasions of other family members stressing for them to do so. In response to their concerns was always, "he's just lazy".
That being said, I grew up thinking everything was normal. That is until 2003. At night when I would lay down, I would notice a constant restlessness in the bridge of my feet that could only be relieved with constant pressure. This was a constant occurrence that I had to look forward before finally falling asleep. As I grew older, I began noticing a constant presence of pain/stiffness in my legs, but chalked it up to working and proceeded in life till the spasms started in 09'. I would get spasms where you could visibly see my muscles twisting and turning under the skin. At first it was always the left calf muscle, but eventually spread. At the same time, my wife always commented that I would sometimes wake her up by my leg muscles quivering in my sleep. She described that it appeared and felt like multiple snakes were crawling under my skin.
Summer of 10', an acute, non-related injury lead me to finally ask questions regarding my legs, which led to another appointment the same day with a specialist that diagnosed me with Cerebral Palsy. Gave me Baclofen for the spasms and Oxy for the pain. 2.5 years later I was done with the poison. Dropped the Oxy cold turkey. No withdraws. Then, the Baclofen caused interesting side effects. Without the Oxys, my legs on Baclofen went nuts at night, it was unbearable. That's when I opted for another medication that has helped manage all/most occurring symptoms since 2012. This was my life till Summer 16'. During a shortage of medication, I noticed other symptoms that could have been dormant since I started my medication in 12'. My current list of symptoms include:

-Leg Spastic(common regardless of medication)
-Abnormal Leg/Foot Reflex
-Severe muscle cramping(Random leg muscles, primarily the left and calf at first. Without meds both legs and all muscles can spasm simultaneously)
-Neck Spasm(Rare)
-Arm Spasm(Rare)
-Arm Tightness(Occasional)
-Diaphragm spasms?(Occasional tightness, gulp/hiccup)(Constant occurrence when initially drinking a carbonated beverage)
-Chest muscles lock while swallowing(Happens when not medicated for 1-2 days since Jan. 17')
-Feet Cupping/Lock for seconds(Longest 30 sec.)(Occasional after 1 day without medication) before releasing to "normal" again.
-Noticed slurring and/or forgetting syllables(Since early fall 16')
-Slow onset to a now concerning level of swollen tongue(ruled out typ. causes already, started today)

Shortly after I quit taking the pills in 12', I was referred to the Mayo Clinic. After finally going through, and feeling the financial sting of a 2.5 Hr. MRI session, the diagnosis of Cerebral Palsy was removed and no signs of MS or sustained injury that could explain my symptoms. I was then referred to a Neurologist. In the same conversation I was informed that my case would now be considered investigative instead of diagnostic practice, and that my insurance wouldn't cover it...Failed US business model of health insurance for healthcare at its finest.
Up to fall of 16' I noticed changes in my speech, that's when it dawned on me, the possibility of ALS. My primary agreed, did some tests and referred to a Neurologist where I am currently waiting to find out if it will be covered by my health insurance. Sadly, I have one of the best provided health insurances outside of elected officials and fortune 500 companies. I am fortunate enough not to pay the premium due to work and have literally no deductible, only a small co-pay at each visit. However, since my first referral to a Neurologist, I currently wait coverage approval for my primary request.

Anyway I guess I am seeking is a bit of a confirmation that I am not delusional to what I feel I may have. If you have experienced my slice of daily hell, I would greatly appreciate any kind of information you may have to give, and open to any other thoughts to what I may have.

Thanks,
-t.
 

ShiftKicker

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Aside from the unnecessary political dig, it's a good description of Spastic Paraplegia you've written down. I do not normally provide such straightforward medical opinion, but it seems like this is the direction to search. There are complicated forms that affect upper body and include a variety of odd symptoms.
 

Nikki J

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Agree with Fiona completely. Has this not been mentioned/ considered?
 

dasht

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Thanks for the input. It does seem more valid than ALS and i'll bring it up in my next appointment. MRI scans indicated no abnormal growth or areas of concern in the spine as the norm specified, but it is something to think about. I also knew it was unnecessary political banter, and that it seems to be a dead horse, but it just came out as I typed along.

Thanks!

PS. I do not know if this helps, but no other biological family member has experienced my symptoms.
 
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Nikki J

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There are recessive forms of HSP so lack of family history does not rule it out, nor does an unremarkable MRI. Yes, please discuss this with your doctors. Given your history of lifelong issues it seems very likely that it is this this or another genetic condition- there are many and a lot of them are very rare. If referrals are difficult and this seems beyond the scope of your current team try to get to a University medical center where they can hopefully manage your diagnostic path efficiently
 

dasht

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Thanks. I really appreciate it. This forum has done more directional thinking for me than anything else has to this point...and in a matter of minutes none-the-less. Proves it never hurts to ask someone on the outside looking in, sort of speak.

Thanks Again!

-t.
 

ShiftKicker

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There is a more appropriate label now of SPG, which covers those with what they call de novo (for first time in a family) HSP. While there are many people with family patterns of movement disorders, there are plenty of folks who fall into the category of de novo. It does take a gene test to confirm which gene is affected, sometimes they still can't identify which one, but there are experienced neurologists out there that can narrow it down for you based on observation and additional symptoms.

You may have someone way back in the family who always walked a bit funny, or sat down when they were 55 and never got up again, etc. Because there was no real knowledge of HSP (and still isn't- it's very uncommon), sometimes people chalked it up to something else- spine injury, stroke, palsy, and so on. But, then again, sometimes someone just shows signs with no familial background.

If none of your previous specialists have brought it up, it either means they are inexperienced with HSP/SPG or it was eliminated during your search for diagnosis. Carefully go through your medical records. If it's not mentioned, bring it up with your neuro. As I say, I rarely step in with a diagnostic possibility, but this is something that seriously needs to be explored.
 
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