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Danni1000b

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Jan 31, 2011
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Learn about ALS
Country
UK
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Surrey
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South Croydon
Hello all

I posted on the PLS boards a few months ago as my 30 year old husband had been seeing a local neurologist due to spascity and spasms in his legs. The local neuro referred him to another neurologist in queens square in London saying "I am beginning to wonder if this is PLS"

We have now seen this other neurologist and have received another confusing letter! We find receiving them so stressful & have to resort to google to try and translate them!

The neuros are taking a wait & see approach which we are finding very difficult to deal with. We asked the neuro outright if he thought this was MND and he said he tells people difficult things every day and so wouldn't shy away from telling us this if it was the case but at the moment he really dosent know The reason I am posting here not on pls board is since the last neuro appointment husband has started having spasms across his shoulder blades which is a new and another worrying development.

I have copyed a couple of paras below and would be grateful for the input of anyone who has been through the long and upsetting process of trying to get a diagnosis. We read the letter one time and the EMG results have us convinced that it is only a matter of time before we have a als diagnosis. Then on the other hand, the lack of muscle wasting and the fact he has loss of sensation would suggest otherwise (he has actually recently suffered a very nasty burn from the exhaust pipe of his car that he didn't feel at all!)

Sorry fir dragging but once I start typing I actually find it very cathartic - trying to be strong and not be upset for husband is becoming increasingly difficult!

"cranial nerves and upper limbs were normal apart from some mild increase in tone that I thought was more obvious on the left side than right. Cough sniff and chest movements were normal. Lower limbs showed increased tone, again more on left than right with retained strength throughout. He walked stiff legged. I thought all reflexes were brisk. with bilateral increased plantars. There was some patchy impairment of pin prick over the lower leg on that side. I saw no fascicilations and thought muscle bulk was normal."

"The MRI of the brain and spine showed no abnormality. The neurophysiology showed no signs of either neuropathy, myopathy or denervation. There was a mild delay in central motor conduction times to both feet indicating non- specific dysfunction of cortiospinal pathways to the lower limbs whereas those to the upper limbs are within normal limits"
 
I'm sorry to hear what you and your husband are going through. It's not easy dealing with the fear and anxiety. Particularly when there's so much uncertainty.

Like your husband, I'm in a very similar situation myself. I'm a 24 year old male with increased toning in my legs, spastiscy, hyper reflexes, and an abnormal EMG. I do not, however, have an ALS diagnosis. At least not yet. My strength is good, and I do not have any muscle wasting either.

I'd say that's reason enough for me to be optimistic. And I'd hope you should be in your husbands case too. MND is a very complicated disease. There's a reason that we currently have no cure, and essentially no treatment. It can, at times, take years to diagnosis. While others get diagnosed right away with textbook onset, and quick progression - some wait months and even years to find out what's wrong.

Ultimately my advice to you and your husband is to stay strong. In this digital information age, we often times expect answers to be immediate. In this particular case, however, it may not be so easy.

I would suggest visiting an ALS specialist or Clinic. While there are plenty of good neurologist out there, finding a doctor with extensive exposure or experience to MND might be ideal. Due to the rarity of the disease, very few Neurologist have ever diagnosed it. Finding a good specialist or clinic, who could perhaps run further, more state-of-the-arts test may help.

Enjoy each other and the life you have now. As it's not drastically interrupted yet. I too am playing the waiting game myself, and believe me, I -know- how hard it can be. There's always hope.
 
No signs of denervation is great news! That should keep you looking the upper motor neuron direction.

Is all the sensation loss in his legs and hands? Hereditary Spastic Paraplegia (a primarily upper motor neuron disease with some other associated problems) causes spasticity in the legs, extra tone, hyper reflexes, weakness, and can also cause some loss of sensation. It also can progress into bowel and bladder problems. If you've read about PLS, imagine a PLS that doesn't produce any consistent symptoms above at most the hands, but does have some collateral damage outside the motor neurons. (Isolated symptoms above that level happen, like just losing jaw strength or swallow.) There is a genetic test for it, though at this point only half of those diagnosed with HSP have one of the 48 known genetic causes. It is a lot less rare than PLS and somewhat less rare than ALS, I believe. It also has a much better prognosis than either of those.

If he has significant upper body symptoms, then I'm afraid you may be in limbo a very long time. Textbook HSP isn't supposed to progress meaningfully above the hands/lower torso/bowel/bladder region. Textbook PLS isn't supposed to include collateral damage, sensory loss, or bowel/bladder problems. Unfortunately, life is bigger than textbooks. This is the land my diagnosis lives in - PLS in it's progression (spasticity/weakness from toes to neck and tongue, inclusive), HSP in it's side damages. I'm not the only one either, and genetically it appear we can pass "proper" HSP to our kids. I've persisted in the system long enough that ALSA is willing to treat me as a PLSer, as that's where my needs fall and my neuro agrees PLS much better represents my situation. On paper I'm diagnosed with HSP, which makes my insurance company shake their head in confusion of why I need a high function powerchair.

Has he had a spinal tap? Your story doesn't sound like primary progressive MS would be out of the question, either. When it primarily hits the upper motor nerves primarily, it can look a whole lot like us. I understand it can take time to show up on spinal MRI's too, which may be contributing to your doctor's wait-n-see attitude. Maybe alyoop will see this and take a swing at that, she's an MS nurse.

I've been at this thing for 16 years. Once they have ruled out treatable and terminal problems, they often take a very long time labeling the disease. No matter what happens, remember that you and your husband will have the primary responsibility for developing life strategies, deciding when to try and obtain assistive equipment (like a cane or a wheelchair), etc. Once the run of tests is over, it's all about living your best with the abilities you have.

Have they given you any guidance on how to live with sensory loss? If not, you should either ask a physical therapist/occupational therapist with SCI experience, or join an online community that deals with it regularly like Carecure's "care" subsection. Even minor sensory loss can open up a pandora's box of trouble if you don't educate yourself.
 
Your husband is in the same situation as many on this forum, including me. He has a bunch of UMN signs, no LMN signs, and frustrated. To diagnose PLS , unfortunately you just have to wait. They cannot diagnose it unless you have had the signs for 3 - 5 years, without LMN signs developing. Thevletter is non specific but certainly points away from ALS. The fact that his shoulders are involved, does not make it anymore likely to be ALS, as they can be involved in the UMN dysfunction, like any other part of the body.

It's hard to wait, but sorry, it's a requirement. I have been going through this for 4 years and it gets easier. Every year that passes, things become a little more difficult physically, but emotionaly, not developing LMN signs is a huge relief.

Aly
 
Hi

Thanks for your replies. He only has loss of sensation in on leg. He constantly has freezing cold feet! He has had blood taken and lumber puncher: -

"Investigations to date are normal blood tests (notably CK, HTLV serology, B12 and folate); EMG, MRI of the brain and spine, lumber puncher, including oligolonal bands."

I think MS has pretty much been ruled out now although it is very interesting that you mention HSP as this is touched on briefly in the nuero letter: -

"..the investigations had very much ruled out certain conditions to account for his symptoms, notably any structural problem with the brain or spinal cord. Neither was there anything to suggest inflammation in the nervous system (as seen in MS), which would probably be the most common cause for his symptoms in population terms. I added that premature degeneration (i.e. early death of motor nerve cells in the brain and spinal cord was a possiblity and that particular situaiton woudl also result in negative investigation results.......in the absence of family history, the possibility of autosomal recessive herdiary spastic paraparesis could also be considered but the diagnosis of this would not be any easier....."

My husband is having quite a lot of bowel and bladder problems which I thought they had seemed to dismiss in our appointments but maybe not based on what you have said (bladder urgency and difficulty with bowel movements).

I guess a diagnosis of HSP would kill any hopes of starting a family? .....

Has anyone ever heard of vascular problems causing such symptoms? A 'friend of a friend' had a spinal DAVF which produced similar symptoms but the neuro seemed to not listen when we mentioned this. I wasnt quite able to get to the bottom of why. I am sure the consultants are amazing but personally I find them quite unapproachable and scary.

Thank you for letting me go on. I seem to be able to cope on a day to day basis it is just I seem to crumble after these appointments and receiving the subsequent letters which seem to be written in another language. My husband is amazing and to my shame is handling this a hell of a lot better than me!
 
Of course HSP doesn't mean not starting a family! It's just nice to know, so you can pass that knowledge to your kids, so they can tell your grandkids, etc. HSP isn't life ending, it is just a minor and slowly progressing spinal cord injury. At worst, you end up in a wheelchair. People with HSP work, have kids, play disability sports, do just about anything you can think of. Before I ended up in my wierd HSP/PLS cross scenario, I climbed mountains and hiked woods in my chair, raised a newborn niece, whatever I wanted to do. Even now I'm quite lively. ;)

You'd be looking at recessive anyway, which means a fairly low chance of passing it on, and no chance they'd present unless you yourself are a carrier of the same type (there are number of recessive HSP's). And even if it wasn't that way, and there was a good chance they'd present, having a paraplegia that sets in slowly, generally at age 30+ is not the worst thing. They'd know about it in advance, how to prepare, what to do.

I'm a first generation mutant, so my parents didn't face that choice, but if they had, I'm pretty sure they would have let me have a go at this life thing. It would have been a real shame if they hadn't - I have definetely enjoyed living! I've never had a dull, normal life, even working a government job was a bit of adventure, it's true. But even with a very early onset (probably due to a car accident) I have done more than many people who didn't acquire a growing disability as a teenager. My parents got to see me wheelchair dance at my wedding, all that stuff people look forward to watching their kids do.

Edited to add: Having lived it, I would have no qualms about having kids if I were able. My ovaries unfortunately have never functioned correctly, so I have been infertile all my life.
 
HSP is usually one of the differential diagnosis of any UMN syndrome, including PLS. It is in my Drs letter as well. As Becky said doesn't mean no family. I dealt with it better than my husband as well. Sometimes it's easier to deal with illness in yourself, rather than being a loved one.

He is so lucky to have someone who cares so much :)
 
Thanks for your replies guys. Yet again you have managed to calm me down and make me see things in perspective. His next appointment is the 9th May and I feel a lot stronger heading into this appointment than I did the last one, I think I am finally coming to terms with the fact that we are in this for the long haul.
Thank you again for all your wise words and support.
x
 
It gets easier over time, I promise. When you've been able bodied all your life, and not had any close crip friends, encroaching disability seems like the scariest thing in the world. But after that first year, you wonder how you ever freaked out so much. You find life consists of the same things as before: work, family, religion, recreation, chores.

Then you get the annoyance phase. Every time you go out to do some normal, necessary activity you have a high risk of getting silly praises from other people. Things as simple as pushing your grocery store down the aisle cause people to exclaim ridiculous things like "That's amazing!" or "It's so good to see you out!". Just sit at a bar with a beer, take a walk around the neighborhood, do any silly thing and you are likely to be called in inspiring. Worse yet for you personally, people will congratulate you and say all kinds of nice things about your character just for being married to you husband. You may during this stage grow fond feelings for the people who stare rudely (but quietly!) or make disparaging comments instead. At least they aren't putting you on some pedestal for existing.

Then there is more acceptance. You know what, if they want to put my perfectly comfortable butt on the front of lines for everything, that's silly... but whatever. I'll take it. Front row seats automatically? Sure. I don't suffer for sitting in lines, but all of our friends really appreciate the "being with Beky" service. The lucky person who was picked to sit in the wheelchair seating with me at the show was not complaining when they spontaneously improved the value of our tickets by almost $200 each. Apparently, the reward for living in this world with all of it's little inaccessibilities is being a VIP sometimes. You have to take the good with the bad, eh?

After you've been at it as long as I have... it's the AB's that seem weird, not me. Take basketball: when you standy types play, one person falls over and the whole game stops! In wheelie basketball, the person who knocked the other player over helps them up and the other 8 people are still playing. Also, while they're looking askance at me when we're on precipices, THEY are waving up in the wind at 6'! Grounded, 4' me is definetely the more sane there. And ice... silly people on legs think they have to worry about me, when I'm the one with all four wheels on the ground. After too long in a wheelchair, you start to look at the thousands of chairs you guys have cluttered up every town with so that when you're doing this, or waiting for that, you'll have somewhere to sit. And you say we're needy! ;)

Having a progressive disability also definetely makes you appreciate the present: not just for the crip, but close friends and family too. You know you can't just put stuff off, you very well may not be able to "do it next year". So you slowly reorganize life around doing and enjoying in the now. There's a little less looking and planning, a lot more leaping.

The most important thing to remember is that where you and your husband are going, hundreds of thousands have already been. There is an adaptive aid for every job, an adjusted sport for every disability level, even minor surgeries to make bowel and bladder care easier. You don't have to reinvent the wheel, the disabled community on the web has a list of suggestions for everything. With web commerce, more crips are taking their home inventions and marketing them, too.

Welcome to the disabled community. PM me your email address if you need anything specific.
 
Hi all - for the last 24 hrs hubby has been experiencing intense earache that is keeping him awake all night, terrible back pain (he has had aches before but not bad pain) and a marked increase in his spascity. I want him to go to the GP or preferably A&E but he is refusing saying nothing can be done for him and these new symptoms are not sigificant. I am at a loss do u think I should push the issue?
 
Intense earache could mean he has an ear infection. You should see the doctor.
Aly
 
Is he on anti-spastics? (Zanflex, Baclofen, etc?) I required them to sleep through spastic back pain for about two years.

I'd also recommend he go to the doc for the ear ache, though honestly I wouldn't myself. After all this, everything else seems like just an irritation. But I give my sister the power to veto my lack of self care and send me anyhow. ;)
 
Hi
Thanks - I am now completely neurotic and I think I am doing his head in!
He told me last night that his bladder problems have increased significantly, he doesnt get any warning when he needs to go and has to rush to the nearest toilet, a few times he hasnt reached it in time. He also said that for the last couple of weeks he has been leaking urine into his pants. He kinda broke down in tears which was horrible - the first time I have seen him get like that, he has been so strong. It has all started to get too much now. He said he feels 80 not 30. We have a neurologist appointment tomorrow and I am hoping that recent developments might help them pin point something although I dont hold out too much hope! I was just wondering whether anyone else has had any experience of bladder problems, they seemed to dismiss this as not relevant last time we went? I wonder whether it is a side effect of his Baclofen? Oh well another question to add to the hundreds we already have for the neuro tomorrow!
x
 
I hope this doesn't come out as insensitive, but beyond marking "incontinence" on a chart, that kind of bladder problem isn't very serious in terms of health complications. Spastic bladder would require monitoring, as it can force urine back up into the kidneys and cause infections. If it is coming out, that is more or less a good thing.

That said, peeing yourself is humiliating. It is a huge blow to dignity, and I'm so sorry your husband has come down this road. I'd rank it up there with "being rescued naked after falling in the shower by your brother in law" among my least favorite experiences.

Practically speaking, depending on how often the incontinence comes up, there is a lot you can do. Your husband is lucky in one way: guys have it much easier! If it becomes a constant thing, he has the option of a condom catheter into a leg bag, which is entirely external. They sell male incontinence pads all the way up to full adult diapers, and while that is a step no one is excited about, it can provide confidence. I use one whenever I will be away from home for even a few hours. Even if it doesn't come up, knowing you have it makes enjoying your activity 100% more. Obviously, carrying a change of clothes in the car is simple and a good precaution as well. Avoiding diuretics and drinking excessively is also commonly done by people with bladder control problems.
 
hi danni.
fellow uk resident here,had pls 12yrs and still going.
listen to becky,she has far more patience than me in explaining everything.........which she does very well.
not as lively as becky by the sounds of it lol but active enough.
i began with symptoms early 1999 but was not diagnosed till end of 2007,alot of ruling out other stuff and waiting to see how things progressed.
it may take time but the longer it does is a good thing..........its not life threatning .

your husband sounds like he has bladder spasms,i too have had them which has now caused bladder weakness thus incontinance.
your gp maybe able to give him a med specifically for this.
has he been given baclofen? if not with umn symptoms he should really start taking it,it will relieve some of the spasms.

earache ,infection or anything else going on in the body can 100% increase umn symptoms.
i was told this at the neuro rehab clinic,told you need to get medical treatment asap.

take care.
caroline
 
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