Newly diagnosed and terrified

[JamesW]

Hi everyone,
I am shaking whilst i type i'm afraid so apologies for my spelling and grammar in advance
I received an initial diagnosis yesterday that i have MND and am being referred by by Neuro to a specialist with MND/ALS experience.
I am male and 46 years old, my mother died of Bulbar MND nearly 6 years ago and i guess i was super aware of my own body when I started to get symptoms nearly 2 years ago with my right thumb 'locking' in a weird position occasionally. I guess you could say it was a cramp or spasm but it would go as quickly as it started with no pain or aches afterwards. A few months later (Aug & Sep 14) i damaged my neck twice in succession and soon afterwards developed a tremor in both hands and twitching in my biceps - this was very noticeable and not subtle at all. My GP treated my neck injury and gave me Popranolol for the tremor, he put the twitching down to stress (i am a company director and work pretty hard). A few months and visits later my neck had healed but my thumb was more and more painful, he said i had an Essential Tremor and that i should look at how i was using my hands (less iPhone e-mails and the such like). He knew of my mum dying from MND and also knew i was worried about that - he reassured me in that i am a fit and healthy guy (i work out) and had no such thing.
Last year i kicked out the Propranolol and in Sept 15 started to notice some wasting of the web space between my first finger and thumb. The pains in my thumb had now spread to my forearm and weakness meant doing things like using a cloth or a can opener were becoming a challenge (not impossible just hard) i could do stuff but it would ache for ages afterwards.
In Oct 15 my GP relented and referred me to a Neuro which took 2 and a half months to get an appointment through. This neuro was not very communicative but listened to my woes and did a thorough reflex exam - which was fine (Plantars down - everything). He also said he didn't suspect MND but more that my earlier neck injury was causing neuropathy. He booked me for an MRI, Nerve Conduction test and EMG - these took until a couple of weeks ago to complete with waiting times at our hospital.
A different neurologist did the EMG and Nerve Conduction and he also repeated a load of reflex tests at the time.
My next appointment was in April to go back for results however on Tuesday i got a call that there was a 'cancellation' at the hospital and could i go in. I think i knew at this point that the game was up - who calls you in early for no news?
So, yesterday i got told my EMG wasnt good and that the neuro who did the EMG had observed some brisk reflexes. Given my family history, the clean MRI of my neck, clear sensory tests and the wasting on my right hand he was certain it was MND and was going to refer me on........I asked about the previously good reflexes and he tested me again (which were again normal) but he did say we were very early in the disease and things wont be presenting fully yet.
So at this point my world fell apart - my wife held my hand tightly and we went home for a good cry. We have a 10 year old daughter and we have resolved for now to not tell her anything yet - or at least not until we have to (being normal right now is tough).
I am posting here because i am scared.....scared that im dying way ahead of what i would see as my time, scared for my family who are going to have to go through this with me and watch me suffer the way we watched my mum suffer, scared that although today i am not facing any physical challenges yet but the mental ones are pretty huge right now, scared my beautiful daughter has got this shit (assuming it is familial and thats going to be a whole new discussion)
My family and friends are awesome - my best mate got in his car and drove and hour and a half to have a beer with me last night. My wife is a rock and is also highly experienced in care giving and the psychology that comes with that. My boss and the rest of the board are very supportive.
So i have lots and lots of questions for you lovely people - i read your forum during my mums illness and also during the run up to my diagnosis and i know how supporting you all are.
I do have lots of questions........like:
Can an abnormal EMG but uncertainty of reflexes be enough to prove LMN and UMN damage?
My biceps still twitch like hell (18 months and counting) but there is no wasting or weakness there. There is also slightly visible twitching on my left calf, shoulders and back which i didn't realize i had.
I have had problems with my thumb for nearly 2 years and have had visible wasting for 9 months - but no wasting anywhere else yet - is this normal as it seems to be a long time - Mum didn't last a year....
I still work out and still feel fit and healthy - but i guessing that's normal too at this stage?
Thanks for reading this and apologies if its long-winded.
James.

 

[KimT]

James,
I'm sorry you find yourself here. The presentation you describe is very strange, almost like something else is going on. Was the neuro who did the test an ALS specialist?
Assuming it is ALS, it seems like your progression has been very slow and that's a good thing. I'm glad you have a good support system.
What I would do is get a second opinion from an ALS specialist. Get all your records, especially the EMG because it appears that your diagnosis is hanging on that one test. If the doctor who did your EMG is an ALS specialist, you need to ask him to explain your EMG to you and why he made the diagnosis.
You will find a lot of help and support on this Board.

 

[Nikki J]

Hi really sorry you find yourself here. I am FALS as well so understand that part too.
I gather you have been referred on to an MND specialist? I hope you get good information there.

My experience with FALS is that presentation and progression can vary widely even within a family. So what happened to your mum is not necessarily going to happen to you in the same way or at the same rate.

For ALS you need lmn and umn findings as you know. Whether the findings are enough to make a diagnosis we can not say of course. Some iffy reflexes are a pretty weak umn finding but some of us ( I am one ) have mostly LMN involvement at first.

When you go to the MND specialist if your diagnosis is confirmed take the riluzole they will offer. Although they will say it extends life by only a couple of months I have been told it is really 10 per cent so depends on progression rate. I have also been told ( and believe from my experience) if you get it really early it probably does more

If your diagnosis is confirmed get gene testing. Treatments for the common genetic forms are close ( sod1 is in early trial right now) by the time your daughter is possibly at risk there likely will be preventative treatment. She would need to know what the family issue was to take advantage

 

[JamesW]

Hi Kim
Thank you for taking the time to reply - I really value your help.
The Neuro that did my EMG was a locum as the hospital have a recruitment gap. I don't know if he was a specialist in ALS or not but I had to wait ages for the appt and even then it was a Saturday when they did it.
What was strange too us when my Neuro sat me down he seemed ill prepared, I had to ask about the MRI result to which he consulted his PC, it was also me that pointed to his own reflex assessment - again to which he went back to his notes. I believe the whole diagnosis was solely from the EMG neuro?
I know this sounds like a touch of denial - and it probably is....but it is weird and I will take anything right now that gives some hope.
The good news is the referral is to a MND specialist and I'm hoping he will give me a better explanation.
Thanks again for your reply and good luck with your own journey Kim

 

[JamesW]

Hello Nikki and thank you so much for taking the time to reply.

Riluzole was mentioned and I will indeed take that when it is offered - good advice!

It's funny as I saw my GP earlier today and he said something very similar to you in that things will have moved on medically by the time my daughter is at risk. You know that's one of the big worries I had and I feel so much better - you forget that 30 odd years is a long time when you are consumed with your own feelings. My GP also gave me a good talking to about my own attitude to my condition - he said that right now I have my health and have very little limitation to carry on with a totally normal life (which could be for a while yet) - he then said that "I don't need to die every single day of this journey and that I should look to appreciate every day" - all very profound and made me feel so much better - he also doesn't want to fill me with anti-depressants and stuff but to get through this mentally - srength I have observed in many of the contributors to this site.
I will get a genetic test myself later on - I guess what I then do with that information will take some thinking about !?
Take care and good luck,
James

 

[Nikki J]

It sounds as if there might be room for a little doubt. Perhaps your mum's MND influenced things a bit? Will hope that the MND specialist thinks differently. Where do you go? Sheffield by chance? They do very good research there so if they do confirm mnd perhaps you can join in a study Even if there is no treatment trial you could help solve the puzzle for the next generation.

Sounds as if you have a very wise gp. Certainly you will see here there are many PALS who continue to live active lives ( although in different ways) read some of swalker's adventures to be truly inspired!

 

[lgelb]

James,
It is certainly possible to make a clinical dx irrespective of reflexes (i.e. with a hint or less of UMN but very obvious LMN damage) but I would want to know what the EMG disclosed, in full. Do you have a copy of the report? I would request one for your own records, anyway.

Best,
Laurie

 

[JamesW]

I'm in Derbyshire which isn't too far from Sheffield - I will remember to ask at my next appt

 

[JamesW]

Hi Laurie,

I see you are the boss of this forum so I had best behave ��

I didn't even see a copy of the EMG and didn't think to ask at the time. I don't even know which bits of me are affected most except for that my bulbar region is clear. I think that when I get my next appt I should write up a list of questions to ask. I'm hoping this will be in the next 2 or 3 weeks.

Thank you for your reply and I am sorry for your loss,
James.

 

[KimT]

James, We're all pulling for you and I'm praying for you and your family. Live each day.

 

[lgelb]

Thank you, James. If you look at the sticky that says "Second opinions and first clinics" you will find some questions you might adapt for your visit.

And no, I'm hardly the "boss" here, but sometimes I am known as "Queen of the Machines"

 

[JamesW]

Hi Nikki,

I wanted to update you on my situation following me having a consultation with an MND specialist yesterday.

Firstly though what a difference a caring, compassionate and knowledgeable neuro makes - he took time to answer our questions and completed a very thorough examination. I got some mixed news - he also is certain i have MND but that it is very slow to progress so far, he wants to see me again in 3 months and get another EMG to benchmark the progression properly. I have a prescription of Riluzole and am just waiting for a liver test to come back before i start taking it.

In terms of FALS studies he was very impressed that i knew of the study being conducted in Sheffield - I didnt take credit for this knowledge , he went on to explain that Professor Dame Pamela Shaw runs the department of Neuroscience at Sheffield and that he himself had been mentored by her. He is referring me for genetic tests and i have volunteered to be a part of the study group if genetics are involved (he did say that there is an outside chance me and my mum were both sporadic but i dont really buy that).

I will let you know how i get on and will post an update in the FALS group once i know what's what.

Take care,
James.

 

[Nikki J]

Hi James. Sorry for the confirmation but glad you have a good doctor. Professor Shaw is justly famous and it is great he trained with her.
Re genetic testing. I think it will take a while unless UK rules are different when you have a diagnosis. Otherwise you must wait a month after seeing the geneticist before the test is taken then it will be about a month for results. One of my cousins is a nurse and had thoroughly researched everything. He begged for an exception but was told none could be made. He was asymptomatic though so maybe different

The odds are good that you have c9 or possibly sod1 the most common genetic causes. If you do , coupled with slow progression, have hope. Gene blocking trials for sod1 are just starting enrollment including a site in the UK ( maybe even Sheffield, I can't remember) and c9 is in the works- maybe in a year. Being in a study at Sheffield would not guarantee you a place in a trial but would put you in a position to hear about upcoming trials and current research