Adventures with Optic Atrophy

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Tokahfang

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I wanted to post an update now that I understand things better and have the present fairly under control.

When asked by the doctor, I told him I had been experiencing trouble for a few months, with some minor problems before that maybe. Boy was I wrong! I just got my new green tinted, polarized, back glare protected glasses and the world looks completely different. The trees in the yard each have differently shaded leaves, distinctly different colors. Video games I played a year and a half ago have icons I have never seen. I thought they were all blue G's. Browns and reds and purples are still dodgy, but at least now I know that I can't see them correctly.

My glasses have some side effects, too. I can't see the display on my powerchair with them, so I am setting the profile and speed by memory. My tv is only viewable at certain angles. It is the polarization that does it.

It seems that this, like other progression, can be very sneaky. I had no idea what I was missing. I guess that makes this summer just a sped up progression time. I did confirm that it isn't the fault of my diabetes, so that with the pallor pattern solidifies the diagnosis. These diseases are a wild ride, aren't they?

In other news, the blood tests are in, and it is official: the spinal damage has hit my thermoregulatory system. My core temperature doesn't break 97 degrees anymore, and commonly slips below 95, uncommonly under 93. The worst part is that I sweat like crazy as my body delusionally thinks we are too warm!

And in a final bit of irony, I am completely healthy. My organ function, cell counts, blood sugar, blood pressure, etc are fantastic. By most measures, that makes me the healthiest person in my house. 8)
 

olly

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hey beky,congratulations on the new glasses and i sincerely hope they will last you for a very long time with little or no progression.
my son has worn glasses since little,can't see a thing without them and every couple of years his tests show his eyes are a little worse.
very strange about the temp and sweat thing,has the pls caused this damage?
it was suspected but never confirmed that i could have automic dysfunction being that i have bad hypotention but can get blackouts(authostatic hypotention (sp))
but i do get freezing cold night sweats from time to time...........but it could be the menopause lol,had hysterectomy aged 30 but left ovaries in so i did not go through it straight away.

[[And in a final bit of irony, I am completely healthy. My organ function, cell counts, blood sugar, blood pressure, etc are fantastic. By most measures, that makes me the healthiest person in my house. ]]
godbless you beky for being so positive.
 

Tokahfang

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07/2009
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It is the PLS/HSP on Crack... you know how it sometimes does side damage to non-motor neurons? Well apparently it takes 4 sections of the nervous system to regulate temperature, and damaging any of them can cause permanent injury to your body's internal temperature guage. Also, anti-spastics like Zanaflex and Baclofen as well as some other common drugs used for spinal cord injury lower temperature, according to the spinal cord injury forums.
 

AKmom

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Jun 2, 2010
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11/2009
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I hope your adjusting well to the glasses Beky and they are a help more than a hinderance. Interesting about the temperature thing. I have had times of extreme cold and sweats too. No fever and alot of times my body temps are low. Been that way for a few years now. You would think with all this body fat I would stay warm...but when I get out because of the temp outside is hot....my body temps go to fever strength at times. The doc has said he thought something with automic systems was going on but no neuro doc has ever even achknowleged the problem since they never get past the muscle problems.

Anyway...take care and have a great day!
 

Tokahfang

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I really like them! I still can't distinguish purple from brown, and my reds are still washed out, but they make the world look like a paintin in a museum, as long as there is enough light to make them work.

Now if I could only remember to carry both sets... heh!
 

medicare

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01/1984
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Ind
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delhi
I understand things better and have the present fairly under control.

When asked by the doctor, I told him I had been experiencing trouble for a few months, with some minor problems before that maybe. Boy was I wrong! I just got my new green tinted, polarized, back glare protected glasses and the world looks completely different. The trees in the yard each have differently shaded leaves, distinctly different colors. Video games I played a year and a half ago have icons I have never seen. I thought they were all blue G's. Browns and reds and purples are still dodgy, but at least now I know that I can't see them correctly. rectly.
 

Moonmark

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Hi Beky- I am interested to hear about optic atrophy associated with PLS. I have an as-yet undiagnosed "condition" of some sort causing shooting-type muscle pain, bad fatigue, some on and off twitching, head pains, urinary urgency, etc., etc. going on for almost two years now. I had a brain MRI with a few scattered "cystic-like" lesions that were determined not to be consistent with MS. I am supposed to follow up with a neuro every six months, but have not been in a year. I recall early on that the neuro noted I was seeing things brighter in one eye than the other and an optician said the optic nerve was slightly larger in that eye. I am recently experiencing blood in my urine, but no one knows why.

anyway, just wanted to hear more about the optic atrophy- is that a sign of neuromuscular diseases?

thanks-

Sandra
 

Tokahfang

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Well, I am a bit of an odd case, actually. The neuros are still debating what exactly my upper motor neuron disease should be called. I share a mutated gene (SPG7) with people who have that genetic cause of Hereditary Spastic Paraplegia... think PLS but only in the legs and down, and with extra neuro symptoms tacked on. But my SPG7 gene is mutated in a different way than the 3 or 4 known SPG7 mutations, and I didn't inherit it... my parents tested negative, which makes me first generation. There is only one gene testing joint for neuromuscular cases in all the world, so at this point I am completely unique. No one has ever shown this mutation before.

For the first 13 years, my symptoms were textbook HSP. I had an insidiously progressive spasticity and then weakness that moved up my legs. Hand involvement came on in year 14, and that is rare in HSP but possible. My jaw was also spastic, but having one or two anomalies isn't totally unknown. I was diagnosed with HSP and went my happy way.

At the end of that year, my progression jumped into overdrive - feet to hands too 14 years, gaining impairment in my trunk, arms, neck, and bulbar took only 1! The neurologist who diagnosed me threw up his hands into the air and said, "It's an incurable disease, what do you want from me?" So I went to a new one who read through my medical records, then examined me. Without my history, I presented like a PLSer, and he was surprised how much of my spasticity had bled away into weakness. He was the one who did the genetic test. What was left was a mystery... I have enough of the side problems of HSP for a formal HSP diagnosis, but the impairment level and area involvement of a PLSer (every PLS symptom except the balance problems). Both are UMNDs, although HSP isn't a pure motor neuron disease and PLS is.

For the moment, we are taking each new development as it comes, and we proceed as if I had HSP and PLS both. But how that get categorized "officially" I don't yet know, and it will probably be done posthumously. If they get around to making it an official term, I'm sure I'll get recategorized to Hereditary Spastic Quadriplegia. I hang out here because I do have an upper motor neuron disease, and being in a unique situation doesn't give me any other club. Plus, they put up with me. ;)

I say all that because I want to explain that how things are for me is not standard in any sense, and you should not extrapolate it to other people too much. Now... to answer your question:

Optic atrophy is a weird topic. Small amounts of optic atrophy can cause no symptoms at all, and it may be the least researched optic nerve problem out there. All the current studies I have read were done in retrospect, and it is crazily rare. (BTW, it is unrelated to Leber's HOA, so watch out for that if you decide to study the matter.)

To my knowledge, it is unrelated to the size of your optic discs, though that is fascinating! My sister has the "eyes of two different people"... they are different sizes, different colors, one is far sighted, the other near sighted. Are yours anything like that?

OA is progressive death of indivual neurons, thought to be caused by demylination. If it comes in waves, then retreats, it is called optic neuritis, and is often an early sign of MS. Hereditary Optic Atrophy, my condition, is genetic and slowly progressive. Either way, it causes portions of your optic disk to become pale instead of bright, pinkish instead of orange due to less blood flow being called for. HOA usually presents with that paleness being on the portions of the optic disc towards the outside of your face... "temporal pallor". HOA can progress slowly or quickly, it can stop progressing for a time or forever, and they still don't know WHY. It is very mysterious, and the visual symptoms are all over the map. There are 1.1-1.2 million neurons in just one eye's optic nerve, and which of those million neurons die can be the difference between having no symptoms or legal blindness or anything in between. Optic Neuritis can be treated with IV steroids, which decreases permanent disability from an attack and reverses attacks faster, but also brings on the next attack faster. Hereditary Optic Atrophy is incurable and untreatable. Both are highly unpredictable.

From my reading, ON attacks are highly noticeable, so I doubt you could miss having them. Your vision gets crazily blurry and then recovers relatively quickly (days to weeks rather than months or years).

Hereditary Optic Atrophy is not generally associated with neurological diseases. It is caused by genetic mutation (in my case, my mutation of SPG7), not all of which are known. Optic atrophy is not a sign of neuromuscular disease. Instead, in HSP of the SPG7 variety, BOTH optic atrophy and neuromuscular disease, as well as a few other things are signs of an underlying genetic fault. SPG7 is the blueprint that builds the mitochondria that scrub misfolded proteins from the cells of the body. For whatever reason that science hasn't discovered yet, certain cells seem to react very poorly to the build up of misfolded proteins, or maybe particular misfolded proteins. Somehow those cells - mostly upper motor neurons, but also sometimes optic neurons, cerebellar neurons, front temporal lobe neurons, etc start decaying and dying.

I am sorry to hear of your condition, and the mystery surrounding it. Has it slowly gotten worse, or does it have good months and bad months? Are you taking any meds for it? It doesn't sound like PLS or any other motor neuron disease from your short description. Motor neuron diseases, both lower and upper, are mostly about weakness and spasticity.

I would do that follow up, by the way. Many neuro problems typically take years to diagnose, but a consistely tracked medical history helps a lot!
 

Tokahfang

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07/2009
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I just wanted to update this - my eyesight seems to have plateaud! I haven't had any noticeable progression in the last two months, for which I am immensely grateful. Here's to hoping it never progresses again. =)
 
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