AdBlock Detected

Sure, ad-blocking software does a great job at blocking ads, but it also blocks some useful and important features of our website. For the best possible site experience and to help support our community please take a moment to disable your AdBlocker.

Status
Not open for further replies.

Wolfcast

New member
Joined
Sep 3, 2018
Messages
7
Reason
Other
Country
UK
State
Dorset
Hi everyone, firstly thank you for accepting me in to the forum. I am here to learn a bit more about ALS and to be able to talk to others that are or have gone through this process as it feels such a lonely place to be sometimes.

It all started back in May/June 2017 with my partner, who was referred to ENT after reporting a fullness sensation in his left ear to his GP. He described it as being water logged. He was also getting cramps in his legs, but we never thought anymore about the cramps.

Various ENT appointments were attended and he happened to mention to the consultant about the cramps and that he trips a lot, thinking something in his ear was affecting his balance. The consultant told him that he suspected an Acoustic Neuroma (a slow growing benign tumour in his brain/ear region) as on examination the consultant had noticed facial twitches. So he was sent for a head MRI which came back clear. By the time he went back for the results he had developed tinnitus in his left ear and some hearing loss. With the results coming back clear his GP then referred him to a neurologist in May 2018, with his first appointment being 18th June.

By this time he had various issues such as headaches particularly in the morning around 4/5am as it would wake him, his lower left lip curled/spasmed, his cramps had got particularly bad and involved his calf’s, hamstrings, abdomen and right hand and arm and also noticeable shaking in his hands. Looking back he had also fallen on a number of occasions but this wasn’t mentioned at the time as we thought he was just being clumsy. At this point neither of us had thought anything about what it could or could not be. We hadn’t put any of the symptoms together and just presumed some were to do with age (54).

On his first Neuro appointment my partner didn’t really pay much attention to the tests that were being done and just did each task as asked. At the end of the appointment the consultant was very forward and said I will tell you now that I suspect it is Cramp Fasciculation Syndrome but I also want to rule out MND. He then ordered bloods and an EMG. In the letter that was sent back about his first appointment the bloods came back as largely unremarkable so far. CK was 237. He had also noted that my partner had wide spread fasciculations.


He attended his EMG appointment on 12th July where he was told that it is definitely not Cramp Fasciculation Syndrome. He did however have abnormalities in his upper arms and thighs and was told that he would need an MRI on his spine to rule out any spinal issues. So 2nd August he had his MRI. At this time we had still not received any letters detailing the results from his first Neuro appointment or his EMG. Up until the EMG my partner had convinced himself he had this CFS then thought well it must be spinal. By which point so many things were happening to his body with such frequency that we decided it may be a good idea to keep a written record. Fast forward a month (Friday just gone) and we have had his MRI results back as clear but a lot has changed within in that month. He took the record that he has been keeping to the GP on Friday and expressed his many concerns (one being that the consultant he is seeing is specialist in Epilepsy) he also asked her how many MND patients she had seen in her career to which she answers none, and then asked how many of her colleagues had MND patients (around 10 GPs in the surgery) to which she said there was one. He spoke to her about whether it would benefit him going to a specialist centre to which she agreed and has referred him to Oxford (I believe the John Radcliffe).

The next Neuro appointment came through for the 24th December. There was no way we could wait that long and to potentially be told results on Xmas eve with two children in the house doesn’t bear to think about. Throughout the last month I have been speaking to my Mum who is a palliative care nurse in a hospice and have shared my concerns with her, one of her good friends is the MND specialist nurse for this area and I have spoken to her about my partners symptoms and how far away the next appointment was, she seems to think that there is a high chance that it is MND and said that the consultant he is seeing is normally very cautious in mentioning MND and was surprised that it was mentioned on his first visit. Bless her she rang the consultant and repeated my concerns and we have managed to get the appointment moved to the 24th September. Which at the moment still feels a lifetime away.

So at present my partners symptoms seem to be:

Fasciculations, now wide spread but predominately left side. And consistent.

Pincer movement on both hands are weak, he is now struggling to write in his book and most is illegible(I have had to do the more recent stuff)

Unable to open any jars/cans ect and can no longer use a spray deodorant with his left hand.

Cramps are slowing down in his legs but are now appearing in his arms and shoulder. He is still getting leg cramps but at one stage it was everyday and unbearable pain as though his legs were out of alignment.

Lip twitching/ curling this happening in excess of 60 times a day now, where at the start of Aug he was documenting individual times around 10-20 a day it has become impossible to keep up with the amount of times it goes.

Tongue Fasciculation which we know that it was not present in June when he had his first appointment.

He is tripping several times a day and always says it’s like his left leg just stops. This can be on stairs or completely flat surfaces. He has also fallen over several times, but has gone straight down, unable to brace fall (as if he was unaware that he was falling until he hit the ground) and cut his head a few times.

He has slowed down with eating (now to my speed, where as before he would be finished a good 5/10 mins before me) and struggles with certain foods and complains that it just gets stuck to the roof of his mouth, and will repeatedly cough during meal times and with drinks ‘Going the wrong way’ according to him. He is also struggling to eat with a knife and fork due to the shaking hands and grip.

Headaches still continue every morning without fail.

Getting breathless doing simple things such as walking upstairs.

As with many of you I just feel like we are in limbo land atm and it seems to have dominated our lives recently. I find it hard as there is no support for people in the interim period from symptom onset to diagnosis. What are your thoughts? Also what would you expect to see next test wise? I have read about lumbar punctures but not sure if this would be standard and would they want to repeat the EMG? I’m aware of many things that mimic MND and am slowly trying to read about them and learn more. Also I apologies for such a long post but thought it might help with background info. Thanks Wolfcast
 

Nikki J

Moderator
Joined
Mar 22, 2012
Messages
7,253
Reason
PALS
Diagnosis
04/2014
Country
US
State
MA
So you are now going to Oxford this month? Dr Talbot or Turner? You will get excellent care there. It is of course hard to wait but that is pretty soon.

They may want another EMG. He has had mris already you said. A lot of bloodwork likely breathing tests possibly an lp

Let us know how it goes
 

Wolfcast

New member
Joined
Sep 3, 2018
Messages
7
Reason
Other
Country
UK
State
Dorset
Hi Nikki,

He has an appointment this month with the original Neurologist (24th Sept) and was referred on Friday 31st August to Oxford, so we are waiting to hear for an appointment from them, he did speak with a very helpful lady at Oxford who said usually the first appointment is a month from referal, so fingers crossed it will be this month.

Yes he has had head and spine MRI both clear. I presume lp is lumbar puncture? Is there something that would change in his blood? I know I mentioned ck but I really don’t know what that is.

What gets me is his lip as all the reading I have done so far I can’t find anything similar to what his lip does. I appreciate it shows itself in many different ways and no two cases are the same.

It’s just a scary place to be and I feel for everyone that has to go through this or anything similar. Thanks for your reply 😊

Wolfcast
 

Nikki J

Moderator
Joined
Mar 22, 2012
Messages
7,253
Reason
PALS
Diagnosis
04/2014
Country
US
State
MA
Yes lp is lumbar puncture. The blood is primarily looking for other things. Most of us had many tests looking for mimics. The diagnosis of ALS / MND is made when there is a combination of clinical exam findings, an EMG that is abnormal in a way that indicates possible ALS ( not all emg abnormalities point to ALS) and then tests to exclude other causes of the pattern seen MRI and blood work is standard. There are tests after the emg that would not have been ordered in the first round.

It does sound as if breathing tests ( pulmonary function tests) might be helpful if the gp could order them
 

Wolfcast

New member
Joined
Sep 3, 2018
Messages
7
Reason
Other
Country
UK
State
Dorset
Thanks, I will get him to speak to the GP re breathing tests.

It just helps me understand what to expect from the next appointment.
 

Kristina1

Senior member
Joined
Jan 26, 2017
Messages
577
Reason
PALS
Diagnosis
03/2017
Country
US
State
MA
If he has waking headaches and is feeling out of breath from things lke climbing stairs i would definitely push his doctor to order pulmonary function tests asap. They could at least address breathing support if it is needed while waiting for your neuro appointment. Let us know how things go. I can empathize with the scary process you are going through. Hang in there.
 

Wolfcast

New member
Joined
Sep 3, 2018
Messages
7
Reason
Other
Country
UK
State
Dorset
Thanks Kristina1, will definetly be getting him to book GP appointment to get it arranged. He wakes every morning with a headache, usually goes by mid morning, occasionally will continue through the day. I am noticing his breathlessness more and more, however it’s not at a stage where he wouldn’t do something because of it. He still walks the dog to the beach in an evening as it’s his favourite thing to do, he is just taking it slower than usual as he has fallen a couple of times and gets out of breath. He is quite stubborn and keeps telling me he is ok, when I can clearly see he is struggling, wether that is to stop me worrying or if it’s because he generally thinks he is ok I don’t know. I worry when he is out with the dog as he is often alone, I stay home as kids are normally in bed, and should anything happen I can’t get to him.

I appreciate your response along with Nikki’s. I know it takes so long for everyone but it just helps having someone to talk to who has been/going through similar things. Thanks Wolfcast.
 

lgelb

Forum Supporter
Moderator
Joined
Nov 5, 2009
Messages
7,264
Reason
Lost a loved one
Diagnosis
09/2009
Country
US
State
WA
Very sorry about your partner. Regardless of his appointments, I would get him a rollator to help avoid falls, talk about ways to minimize stairs use (in your home or elsewhere?), and thicken/blend his liquids with cornstarch, potato flakes, egg, nut butters, ice cream, whatever works best, to avoid choking. If he has difficulty swallowing pills, many can be crushed in applesauce or pudding (check the label and the Do Not Crush List, or ask here), or dissolved in warm water, and liquid forms are often available. Diagnosis is one thing, avoiding further injury/complications is another.

Best,
Laurie
 

Wolfcast

New member
Joined
Sep 3, 2018
Messages
7
Reason
Other
Country
UK
State
Dorset
Hi Laurie, thank you there is some really useful information there. We have briefly talked about how we would change the layout of our house should he get a diagnosis of MND, but at the moment he keeps on insisting he is fine and that he feels like a fraud as to most people who are unaware of what is going on he looks ok (his opinion).
I get what you are saying about the rollator but I know that he wouldn't even consider that at this stage. But it is handy for me to know (i had to google what it was) for future reference should he feel that he needs extra support.

Thanks for the useful info.

Wolfcast
 

Wolfcast

New member
Joined
Sep 3, 2018
Messages
7
Reason
Other
Country
UK
State
Dorset
Hi,

So quick update, we were lucky enough to get an appointment at Oxford the same week as our local Neuro appointment. On seeing our local Neuro specialist he wasn’t able to make a diagnosis yet but had ruled out various mimics. He said that he thinks it could well be MND, however is surprised that there is not much weakness. He said at this point he would have referred us to Oxford anyway as he was unsure where to go next.

So a few days later we had the appointment in Oxford with Prof. Turner. He noted that my partner sounds nasal and that he had weakness in his left leg and left fingers, also that he has facial weakness (bells palsy). Which hadn’t been noted before. He was upfront and said that he could normally say yes or no to MND however my partner was a confusing/challenging case, he wanted to check for a couple more things Issac’s disease and Lyme (to which he didn’t think he had but said he still wants to put a cross through them).

He said that if he was presenting with the same symptoms then he would say that it is MND, but again with minimal weakness he is confused. He wants us to return again in 2 months, by which time if bloods have ruled out the other things he was looking for then he will treat it as MND and start him on Rizole? Letter came through this morning (as I was writing this) to say all bloods clear so I guess that now only leaves us with an MND diagnose?! But now have to wait for an official diagnosis in November. Now the waiting game for another few months.

Wolfcast
 

Nikki J

Moderator
Joined
Mar 22, 2012
Messages
7,253
Reason
PALS
Diagnosis
04/2014
Country
US
State
MA
Thanks for the update. Sorry things are trending this way. What happened with the breathing? You are in good hands with Dr Turner
 

Kristina1

Senior member
Joined
Jan 26, 2017
Messages
577
Reason
PALS
Diagnosis
03/2017
Country
US
State
MA
I'm sorry things are going this direction. Has he had pulmonary function tests yet to check on his breathing?

Did the doctor explain what they mean by the weakness being 'minimal'? Seeing as he is unable to do certain things? Did their strength testing come out normal in the exam, even though there are things he can't do?
 

Wolfcast

New member
Joined
Sep 3, 2018
Messages
7
Reason
Other
Country
UK
State
Dorset
Thanks for the responses. His FVC was 4L which he didn’t seem to concerned by yet.

When Tuner did the exam, he noted slight weakness in his left leg and fingers on left side. He explain that he would normally expect to see more widespread weakness and to a higher degree. He still cannot do what I mentioned previously and Turner did say that although the exam shows weakness as far as push here/pull here that it doesn’t show weakness as far as day to day tasks like opening jars/tins ect. I think this is what is confusing about this case.

In the letter received today from Turner: ‘ I share the concern of his local neurologist that this is early symptomatic MND, coming on after one year of severe muscle cramps. The florid tongue, upper limb and abdominal Fasciculation seems pathognomonic, but the central tenet of progressive weakness is not yet clear, there are no upper motor neurone signs, and he has a striking unilateral right facial nerve palsy with detectable weakness of eye closure, which is highly atypical.’

‘He probably is weak in left hip flexion (but with profound cramping on resistance) and more marginally weak in left finger extension.’

We both thought that Prof. Turner was great, straight to the point and brutally honest. He said 9/10 patients he sees he can diagnose easily but he gets 1 patient a year that stumps him slightly and my partner is that 1. He said he would say it is MND but was reluctant to give a diagnosis until he had ruled out Issacs and Lyme.
 
Status
Not open for further replies.
Top

AdBlock Detected

We get it, advertisements are annoying!

Sure, ad-blocking software does a great job at blocking ads, but it also blocks some useful and important features of our website. For the best possible site experience please take a moment to disable your AdBlocker.

I've Disabled AdBlock
No Thanks