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Danni1000b

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Hello Everyone

I am not sure if this is the right place to post so apologies in advance if it isnt.

I am posting on behalf of my husband. By way of background, he is a 29 year old policeman. Up until a few years ago he played Rugby twice a week, was an avid gym goer and rode 9 miles each way to work on his push bike.

About two years ago he started suffering from a limp and stiffness in his leg. He thought this came from a problem with his hip joint as he felt some 'crunching'. At the time he was seeing a chiropractor who said his hips were out of line and would manipulate them back into place. He would get some relief from this but it never lasted.

The symptoms started to get worse, the limping become more pronounced, he became clumsy (only noticable to me and him), his leg was very stiff, he developed problems (minor) with his bowels and bladder and muscle spasms in his legs at night (spasms in both legs although the other symptoms are only present in his right leg).

He went to his GP who referred him to a neurologist at our local hospital. She carried out various blood tests (all clear), MRIS (all clear), spinal fluid analysis (all clear) and nerve conduction studies (abnormal) and diagnosed Baclofen.

In the meantime my husband has now had to go onto light duties at work.

At Christmas she referred him to a neurologist in Queen's Square in London. Her referral letter said she 'was starting to wonder if this was Primary Lateral Sclerosis'.

We went to this appointment and had been left feeling bewilldered and anxious. We have no diagnosis. The consultant has said he thinks he has a nuerological condition affecting his upper motor nuerons but what it is, he doesnt know. He has having another MRI of the head and further nerve conduction studies and EMG(?).

He mentioned these were to rule out a rare form of MS that doesnt show up on MRI scans and something called Heritary Spastic Paraplegia although the main reason is to try and monitor any changes since his last tests.

He also wants the bowel and bladder problems to be invested further to see if there is a link because apparenty this does not really tie is with nuerological problems.

What has left us feeling so frustrated and scared is that his next appointments are not for a few months and we have in a round about way been told that we have to 'wait and see' and to me that translates as having to carry on watching him deteriorate with no diagnosis.

From only a brief look on this board it seems that it takes a long time to be diagnosed.

I don't know what I am asking really, just looking for any kind of hope/reassurance to cling onto. Does anyone know of a similar situation where somebody hasnt been diagnosed with something terrible? Are there nuerological disorders that are not life changing?

Thank you in advance.

Danielle x
 

abbas child

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Danni100b, I left you a message on your profile page, but this is what I wanted you to read... I'm not positive, but I think if you post your question (open a new page on your computer and just cut and paste) in the DO I HAVE area of the forum, you'll get more and perhaps faster response. I don't have PLS, and hate to butt in, but also hate seeing your question not answered.
Best,

Ann Do I Have ALS? Is This ALS? - ALS/MND Support Group Forums
 

Danni1000b

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Thanks so much for replying. I have now posted it where you suggested.
Many thanks
Dx
 

Alyoop

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Hi Danni.
Your story reads as very similar to anyone with or waiting for the diagnosis of PLS. It is a waiting game. I, like your husband have a limp/spasticity and weakness, that is coming from UMN trouble. PLS is difficult to diagnose and like ALS its more a matter of finding out what it is not. The wait and see game is very frustrateing, but the neurologists will need to see how your husband progresses over the next 3 -5 years before they can say you have PLS. Hereditary spastic paraplegia will of course be one of the other differential diagnosis, as they are so similar.
The type of MS that they will be questioning is probably Primary progressive MS which is harder to diagnose as it does not tend to have the lesions which are so obvious on MRI in either the brain spinal cord or both.
I understand your frustration. I am in the same holding pattern. I have had to turn down work that is long term and alter my lifestyle. It has taken a while to adjust.
I have been told that I will have an EMG every 12 -18 months to see if LMN signs develope, which I feel sure will not.
Hang in there, you will get through this tough time, but a diagnosis of this sort of thing is long and hard as I have said.

Aly
 

Bad Balance

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Yes;

With a regular neurologist's practice, a diagnosis can take a while. If you wish to move things along you might consider getting a referal to a clinical specialist in ALS.
 

Alyoop

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Dannie, you and your hubby can be assured that Queens Square is one of the top Neurological institutes in the world. Not even the best neurologist can really tell you what's going on until time passes, especially with umn conditions.
Aly
 

Danni1000b

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Thank you everyone for taking the time to answer.

I think that what we have to come to terms with is this isnt going to be a short process. It is just so difficult to watch him deteriorate.

I think the problem is that it has taken us quite a long time to get to this point and we were so relieved when we were finally referred to the specialist at Queen's Square thinking that we were finally going to get some answers. I think we both thought we were going to walk in there and he would say 'oh you haven't got a motor neuron problem you have X Y Z'. Which obviously didnt happen.

As he is a young, fit guy we started off thinking he had a slipped disk or a trapped nerve and I won't lie, to find ourselves going down this road has proved to be a massive shock.

I also find it frustrating that we were not given more information. I know he hasnt actually been diagnosed yet but just telling us, 'yes he has a problem with his upper motor nuerons and it will take some time to determine what' has put us both into a panic as obviously you type that into google and you are faced with all manner of terrifiing articles etc.

I am trying to do as much research as possible but am finding the whole thing very confusing. Are there lots of conditions that affect the upper motor nuerons or are we now just looking at PLS/Heriditary spastic paraplegia/rare form of MS? I am desperately looking for something to hold onto and hope for.

A collegue at my husband's work has a cranial DAVF. It took him a long time to be diagnosed. He told my husband that there was a spinal version and that his symptoms were similar. We mentioned this to the neurologist and he said that was 'picking hens teeth.' I presume this means that it is rare but he wouldn't be drawn on whether this was a potential?

I am finding it very hard to accept that this is such a slow process and there is no momentum behind this at all, something that is affecting our lives so profoundly - we are in our 20s, only been married for a couple of years and were hoping to start a family, husband's work has been terribly effected, it was always his dream to be in the police force and is now stuck behind a desk very early on in his career. I know it might sound melodramatic but I just feel like our future has been dealt a blow.

Thank you again for listening and commenting on my rants. I hope I havent offended anyone but I have actually found it very cathartic writing all of my feelings and worries down. I feel like I am boring myself and everyone around me by constantly talking about it and I try not to voice my worries too much to my husband as I want to be as supportive as possible as I know he is feeling very low. Therefore I am very glad I have found this forum and so I can let off steam and bore you guys instead.

Danielle x
 

Al

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Don't worry about the rants Danielle. We've mostly all been there at one time or another.

AL
 

Alyoop

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Danielle, don't apologise and rant all you wish. I went to a mnd specialist over in Australia for exactly the same reason. Took months to organize, all I got was it's not ALS, it could be this that and the next thing.More horrid tests, muscle biopsies etc, nothing.
It is so hard, and you are both so young. At first you feel angry with the shift in your life and plans, then you feel sorry for yourself, then eventually you alter your life so you cope, and that brings with it a sense of relief.

I had just started my own business and had to turn down a great 4 year MS study. I didn't know how fast this thing would progress. It made me so down in the dumps. I have just put together a business plan with a pharmaceutical company for a very part time job, but well paid and I have the contract signed. I told them about my condition and they have been amazing. So it's just a matter of coming up with new ideas and living for what you have now.

2 of my MS patients have just been dealing with the issues of starting a family. They are both young men. The biggestvissue with an ms patient is similar to that of a person with an undiagnosed condition. They do not know how fast the MS will progress. Could be very mild, could be very fast, no one knows. It was a terribly difficult decision to make. One had IVF and has a lovely baby and the other has opted to stat on the clinical trial at the moment, but is going on the IVF waiting list soon.

They ended up thinking that life could not stay on hold just because of MS. They had to forge ahead with their dreams regardless.

I am not trying to say that it's easy, just let you know how 2 other young men ended up dealing with an uncertain future.

Aly
 

johnnyliverpool

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dan...its like reading about myself..the bit about the bowels and such not being neurological aint true....after six years under the neuros i got this sort of diagnosed....cervical myelopathy nor causing the probs...not a stroke.not a tumour and not MS.......i have upper motor neuron syndrome.. caused by something in the spine...and i was a very active sportsman also.........frustrated i sure was!...useless neuros!..but the truth is they aint got enough knowledge. these people on these boards helped me to accept the limited diagnosed i have and i aint chasing the neuros just to get all frustrated and angry........my advice is type in your computer the upper motor neuron syndrome and take a copy with you next time you see your neuro....its probably the spasticity causing most of your hubbies probss...i aint no expert and i may have made a few errors here but the folks here will correct me no doubt..the best of british to you and your hubby...johnny
 

johnnyliverpool

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i didnt mean als of course...silly me...pls i meant...but i really meant the umn syndrome...am a fool
 

Alyoop

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Johnny you are not a fool. The computer puts in the ALS before the word Diagnosis. It does not appear until you post. It can be really embarrassing and cause a post to read completely wrong.

Or maybe you are a fool as well : )

Aly (the cider swigging Kiwi)
 

Tokahfang

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HSP isn't a form of MS, it is a genetic upper motor neuron disease. If you fail the genetic test, the only way to know if it is HSP rather than PLS is to watch progression. HSP should mostly stay lower body, PLS affects the whole body. Sometimes you have PLS progression with an HSP gene - this is known as "Hereditary Spastic Quadriplegia" in the in crowd, but isn't an officially named disease.

So I, for instance, have HSP on paper. I share a mutated HSP gene, but have full body progression. I am practically a PLSer, but it took a very long time to get here.

I remember the day I was diagnosed, all my doc did was turn to my husband and say "you're lucky she's not depressed" and make a 6 month appointment. But what was he going to do? I lived in a wheelchair already, had gone to the top of a mountain in one in fact, and played wheelie basketball.

It's a lifelong thing either way, so the game is mostly just learning to live well at any step. PM me anytime for HSP info.
 

jl73

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It's pretty easy to freak out when you start reading. It's human nature to want an answer. The docs thought I had ALS and pretty much wanted me to figure out what machines I wanted to be on. Well, that was some years ago. I'm still going. Maybe not strong, but going. I have other really serious health problems so I didn't even want to pursue this. In general, what it seems is for diagnosing: if docs think you have a treatable condition they want to give you some diagnosis quickly like a slipped disc. If they think you have an untreatable condition and you will be around for a long time, they hurry up and slow down. If they think you have an untreatable condition and won't be around for a while, they will give you the "talk" in little pieces at a time.
There is some logic in waiting around for a diagnosis. If it's not immediately life-threatening, then it gives you lots of time to mentally prepare, and offers a window-maybe 3 years in the case of PLS to come to terms that you have some illness. It also offers you some more time to feel like the old you who might still recover. (Ignorance can be bliss for a time-life feels more mentally confining when you find out you have some life long illness). If it turns out that you don't get any worse, you might never get a diagnosis and be spared that fate. This is like the girl who never gets back to you after the date. You know what has happened but are waiting for that confirmation that never comes. Pretty soon you figure it out on your own after everything else has been ruled out. Some doctors are more adverse to handing out bad news especially with these types of diseases where really there's no treatments for them to go over with you to soften the news.
With these upper motor problems, there are literally dozens of similar illnesses that mimic the symptoms. There are probably also many undiscovered distinct illnesses that we have yet to categorize, even different forms of PLS--there's three I know of, childhood juvenile, a very rare heriditary form of PLS found only in one family in Quebec, and the other non descript PLS. There's probably many more types I'm guessing.
As far as how bad people get, I've heard that there are many more people who have PLS than the 2000 number in US but they are so symptom free that they never get a diagnosis. In general, there's no way to figure out how a person will do over time.

There's also new treatments and research, so help is on the way. A form of magnetic therapy called TMS has been helpful in small studies. A new form of TMS called continuous Theta Burst Stimulation cTBS (think of it as extremely high power magnents-not exactly what it is but close) has some effect on ALS (probably other things as well). There's also some thinking that all of these neurodegenerative disorders have a common link to them in the form of errant proteins beyond the glutamate phenomena. This is helpful because it allows for starting to model the disease in animals to see what is really going on. For too long the procedure was to try some drug. If it helps, great. In general, this shot in the dark is a poor method to conduct research.

Glutamate-mediated excitotoxicity may play a crucial role
in death cell in ALS (Corona et al. 2007). It has been
proposed that cTBS could antagonize this process by
reducing the response of corticospinal cells to glutamatergic
input. In a double-blind placebo-controlled study, cTBS
was delivered bilaterally over the primary motor cortex
daily over five consecutive days per week for a six months
period in patients with ALS. Although all patients deteriorated
during treatment, the group that received active
cTBS had a significant slowing of the deterioration rate
as compared with those patients who received sham stimulation
(Di Lazzaro et al. 2006a). These results are
comparable to those found after several cycles of 1 Hz
rTMS over the primary motor cortex in amyotrophic lateral
sclerosis (Di Lazzaro et al. 2004).
 
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