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variant CJD


Hi All,

My son is a 34 yr old British male. Since the end of 2008, he's been having more and more cognitive problems, which has seen his health deteriorate a little more each month, which as any parent will concur with, is very upsetting to witness - especially when no one seems to have any answers.

In March, he was forced to give up his job, as he was complaining increasingly of his mental functioning becoming very flaky - not being able to think straight, or brain fog as I think it's called, short term memory problems, repeating himself verbally, feeling disorientated, etc.

He saw a neurologist in April, who our doctor informs us is very good, although he appeared to be quite dismissive of his symptoms, as he couldn't see anything obvious upon examining him. He did however arrange an MRI scan of the brain though, which didn't show up any abnormalities. Our doctor has also performed extensive blood tests, all of which have been normal.

His girlfriend, who unfortunately he only started dating just prior to his health problems commencing left him a month or so ago, stating she was no longer going out with the person she'd met a few months back. Quite upsetting for him, but I can understand her reasoning, given his obvious decline in health.

By this time, he was just shuffling around in a daze like state most of the time, not really being able to have a proper conversations. He complains of either forgetting what the person in question has said to him, before being able to reply, or just being totally blank in mind, and unable to formulate a reply. Another prominent symptom is constant muscle twitching, all over his body - arms, hands, legs, shoulders, feet, etc.

We've now moved him back in with myself and his father, to ensure he's eating properly and having some sort of mental and physical stimulation, as he was living on his own. Everyone who knows him, along with his family are very worried about what's going on, seeing our son go from a happy, outgoing individual who was doing ok in life, to a complete wreck, who's memory is failing him, and gets confused just making a cup of tea, or getting dressed in the morning, and spends most of the day, just sat on the sofa crying intermittently through the day.

Having started to research the internet for possible causes, through lack of anything else concrete having been put forward as a possible diagnosis, aside from the neurologist we saw who suggested it was “just all psychological”, I've now come across worrying information, which points towards variant CJD, the profile of which he seems to fit exactly, and of course a terrible disease which has caused the death of quite a few young people over the past few years in the U.K.

I was reluctant to mention this to his doctor, obviously not wanting to appear overly irrational, but upon doing so, he just laughed at me, and said that couldn't possible be the cause. I asked him if something like this would of shown up on my sons MRI scan though, and he informed me that it wouldn't of done, as an MRI only shows up anything structural that's untoward. This did nothing to help reassure us.

I suppose what I'm seeking, is clarification as to whether variant CJD would visible on an MRI scan of the brain, as - contrary to what his G.P said - I've read somewhere that it does, so now don't know what to believe. Of course, if anyone has any other ideas of what could be causing my symptoms, I'd more than appreciate their input.

Currently, medication wise, my son has been put on 60mg a day of Duloxetine for depression, and 2 x 10mg of Tamazepam every third night to help him sleep, otherwise he's only able to sleep around 3-4 hours a night.

Thanks in advanced.

A worried parent.
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Avatar universal
Hi adzib,

Firstly, let me thank you for your reply,

After a couple more visits to a different G.P based at our practice surgery, my son has now been refereed to see another neurologist, who specialises in neuro degenerative conditions, such is the rate at which his symptoms continue to progress.

We spoke at length about the possibility of something like Variant CJD, and although acknowledging that it is a very rare condition indeed, whilst reassuring us the best she could, she's obviously unable to rule the possibility out completely, given she's not a neurologist and has no experience in this field.

He's been tested for Lyme disease, thyroid function, and B12 levels, all of which have come back normal. The first neuro we saw, ruled out M.S and Parkinson's Disease, although granted, his symptoms three months ago were not as severe and overt as they are now, so perhaps that's something which needs to be looked at again, although would there not be indicators of both of these present on an MRI?

Chronic Fatigue was mentioned initially, but as fatigue is not really an issue, and that the cognitive symptoms are progressive - and to a degree not seen with CFS, along with them not fluctuating at all, both ourselves and his G.P, dismissed this possibility.

As the muscle twitching - and now also spasms & jerking - are occurring concurrently with several other neurological symptoms, his G.P thinks it's all related, and not an unrelated condition.

After further reading up on Variant CJD, from what I've managed to ascertain is that about 80% of cases, do show something called the 'Pulvinar sign' on an MRI, although this can not appear always until later on in the illness. A tonsil biopsy is apparently a very good way of helping diagnose the condition, as unlike other forms of CJD, the prions which causes the disease, are present in the tonsils. As you mentioned, a spinal tap can also be of use.

Something wrong with the frontal lobe of his brain, is also something else that's been put forward, by a doctor friend of ours.

Anyway, I guess it'll be up to the new neurologist to decide which tests he feels are pertinent.
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Avatar universal
I've read that CJD can be seen in an MRI, the prions that build up and cause the nerves to die which makes parts of the brain look spongy.
I have also been having problems and have done a lot of reading into neurological diseases and causes of twitching, have you looked into

-Lyme disease

-Thyroid problems

-CFS (chronic fatigue syndrome)

-BFS (Benign fasciculation syndrome)

-Fibromyalgia

-B12 deficiency

-Electrolyte imbalance

-MS

-Parkinsons disease (not a deadly disease, shuffling can be a symptom - parkinsons is a diagnosis of elimination)

-Chemical imbalance of the brain, this doesn't mean that your crazy.... it just means that the brain isn't producing enough of a certain chemical e.g. Serotonin.

All neurologists i have encountered have been rude and dismissive, if you don't like him then find another.... also, demand an EEG,,, this can also detect CJD, a spinal tap (although not conclusive) can detect proteins from CJD as well as lyme, it might be a good idea to demand an EMG as well (to detect muscle function).
There is also the possibility that it could indeed be psychological, although, i know what it is to be told that it's all in your head.... the doctor isn't always right, it took me a while to be taken seriously because my so called doc thought that the twitches were being caused through stress.
Stress can cause twitches, did the twitches start after your son began stressing over his condition?
Brain fog can be a symptom of lesser controllable condition ( like a hypothyroid ), has he had a full thyroid panel done?
That is all i can suggest ( as i'm not a doctor ), CJD is an incredibly rare disease so it is very unlikely that your son has it, also, the muscle twitching (myoclonus) is a symptom that normally happens at the end of the disease.
The best way to put your mind at rest would be to demand an EEG, it measures brainwaves and detects neurolgical conditions, if the EEG is clear then i wouldn't worry about CJD anymore.



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Does anyone have any thoughts?
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