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Ataxia Support Network

Episodic type 2 Ataxia


#1

Hi!
i am Pooja, 30. i started having my episodes 10 years ago, misdiagnosed, misjudged, and finally diagnosed three years ago, thanks to the symptomatic treatment by Diamox, which is btw, a boon!

I have been able to finish my PhD since, and i still have a mentally and sometimes physically challenging job (i am in research myself).

Working is crucial to me, but nowadays i find it increasingly challenging to be able to work full time. My episodes have increased in frequency, i get them almost monthly, for a week or so. It terribly affects my professional, personal and social life… I am sure you all understand.

I have questions for the fellow sufferers: How do you physically, and more importantly emotionally cope with the disease, and has anybody here been a full time working fellow? please share experiences

Another question is, Does anyone of you also experience muscle twitches (fasciculation) in your body? Apart from the lack of coordination, eyepain, severe fatigue, dysarthria, nausea and sometimes migraines, i have muscle twitches, especially in the right side of the body all the time. Sometimes these twitches are so violent that not only can those be seen with eyes, but also last for about 40-50 minutes, and are quite annoying.

I also suffer from Hashimoto’s disease. Please come forward and share your experiences, esp. regarding th emanagement of the disease. it is becoming increasing difficlt, as far as my story goes.

Take care, you all! :slight_smile:


#2

:slightly_smiling_face:Hi, welcome to the group.
I live in the UK and have recently been prescribed Diamox ( Acetazolamide). After years of misdiagnosis, I’m currently being tested for an Episodic Ataxia. Would you describe your ‘episodes’ as seizures, or deja vu?

I tested negative for Gluten Ataxia, and seem to be within parameters re Thyroid function, although I’m not convinced.

I can relate to the symptoms you describe, my first misdiagnosis was early 1990, I was thought to have Epilepsy. I had one seizure in my sleep, and episodes of deja vu while awake.

Since then ataxia symptoms have accumulated, balance issues - double vision & Nystagmus - cognitive difficulties - memory loss - dyschronometria - lack of spatial awareness - tongue biting & choking - peripheral neuropathy - bladder weakness - severe fatigue.

Up to now I don’t have the twitches you describe, have you been tested for Dystonia? Botox is said to be very helpful.

I’m now 66 and worked until my late 40s. Multitasking became an issue, and I knew my job was suffering due to lack of concentration. Stress built up, and it was better all round to retire.

I can still walk, using a walking stick for balance, and a rollator when necessary. Speech can be variable, my husband says I’m inclined to whisper but to me it sounds normal volume.

What kind of research are you involved with🤔xB


#3

There is a product helpful to clear up Hashimoto’s. www.drrondrucker.com is where you can see testimonies. I’ve been taking Autoimmune-X into my fifth month now. Most noticeable is I heal faster than ever. A friend’s dog had scratched my hand pretty deeply (he’s a puppy and just learning). Usually a wound of any kind would take weeks to heal. Not so this time…five days and the wound was closing up nicely. Not even a scar now. I’m taking the product for my bone density. It’ll take two years for DEXA scan results. Hashimoto’s takes about 8 months of taking the product. Best to you, JD


#4

Thanks So much, Ms Beryl!

My episodes are not seizures, At best i only had two incidents of chills and sudden temperature drop, one of which had me hospitalised for days. My Ataxia is not persistent, it comes with overexertion of any kind-physical, mental, or emotional. Startles cause ataxia, extreme happiness causes an episode for me. laughter causes ataxia, so does stress.

Your symptoms seem extreme, I must appreciate your strength and being a neurophysiologist myself, i would doubt about the nature of your symptoms being ataxia exclusively. They should check you thoroughly.

I havent had nystagmus, but i have had double vision, and blurred vision is a frequent problem for me. I frequently fall, and drop things in this period, and holding small things in palms or opening bottles is a daunting task. And in these 10 years i have seen a steep decline in my cognitive abilities- forgetfulness, lack of spatial awareness, and mental confusion, as well as inability to multitask anymore. The nature of my job is cognitively challenging (I am a neuroscience researcher studying neurodegeneration, irony much!), and i myself can feel losing the edge, which is quite disappointing.

Somehow, my neurologists have been reluctant to discuss about the muscle twitches. These twitches are common in Type 1 ataxia, but not described in type 2, as far as my knowledge goes. They have suspected Multiple sclerosis and myasthenia gravis for me, but finally zeroed on ET2 Ataxia. I will ask my neurolpgist about Botox, Thanks for that!

I wish you health, madam Beryl!


#5

Dear Madam,

Thanks for your suggestion. I am a life science researcher (neuroscientist), and it worries me to tell you that the medicine you told appears similar to few others that take a pseudoscientific approach. I would worry because a medicine that brings the autoimmunity down in general (and not in specific, as this one does not), might actually compromise the immune system in more than one way. The assualt to thyroid, for example, is because of specific antibodies, which are different from Multiple sclerosis, another autoimmune disease, for instance. Further, there is no scientific data to prove its safety and efficacy.

Thanks


#6

Thank you for your thoughtful reply. Thankfully, I will be able to medically see how efficacious the product has been as I’ve had both DEXA scans (T-score of -3.7) and bloodwork-with it being noted that my ANA numbers as being elevated. So, the evidence will be whether these numbers have moved into the normal range again. jd

puja
August 8 |

Dear Madam,Thanks for your suggestion. I am a life science researcher (neuroscientist), and it worries me to tell you that the medicine you told appears similar to few others that take a pseudoscientific approach. I would worry because a medicine that brings the autoimmunity down in general (and not in specific, as this one does not), might actually compromise the immune system in more than one way. The assualt to thyroid, for example, is because of specific antibodies, which are different from Multiple sclerosis, another autoimmune disease, for instance. Further, there is no scientific data to prove its safety and efficacy.Thanks Visit Topic or reply to this email to respond.
In Reply To

senior48
August 7 |

There is a product helpful to clear up Hashimoto’s. www.drrondrucker.com is where you can see testimonies. I’ve been taking Autoimmune-X into my fifth month now. Most noticeable is I heal faster than ever. A friend’s dog had scratched my hand pretty deeply (he’s a puppy and just learning). Usually a… Visit Topic or reply to this email to respond. To unsubscribe from these emails, click here.


#7

Hi all, I just joined this forum. I’m Anna and currently working in London for my PhD in cognitive psychology. it’s great to meet someone else from a related discipline:wink: My EA (or hemiplegic migraine) onset was late as it only happened a year ago. I have frequent symptoms and attacks generally once a week so it really impacts on my ability to work. My symptoms have progressed a lot in a year. I used to have pure ataxic symptoms with dysarthria but now have more permanent baseline symptoms with additional frequent paralysis/weakness to my right side (all my symptoms are to my right side). Diamox only helps a bit with my head pressure and attention but I still have frequent attacks and was seriously doubting how I could continue my life like this. I have so many problems with my proprioception and I’m almost autistic like when my sensory problems become too much. Anyway long story short I’ve been trying ketogenic diet for 1.5 month and have found that my brain is a lot more stable. My condition is at its best when I just starve to be honest… so I’m thinking to do 2 or 3 day fast a week from now on. I dunno what kind of EA I have yet cuz I’m still waiting for the genetic result from the 100k genome project. I just want to share my experience with the dietary treatment as I think it is by far the best at the moment. I’d like to try 4AP though.


#8

Although I have to stress my triggers are a bit different from you. Happiness and laughter definitely do not trigger it (if anything it probably prevents it). But stress, emotional stress (but not emotion i.e crying per se), sensory overload, fatigue and physical exertion (except for swimming) can trigger it. Although often it can yet happen or gradually build up without any apparent reason. But I’m generally better when I’m happy :stuck_out_tongue_winking_eye:


#9

:slightly_smiling_face:My symptoms also seem to follow a pattern, I’ve donated DNA, and am involved in the Genome project.
Up till now, I was fairly certain the cause was Recessive, and possibly associated with one of the Episodic Ataxias. Basic ataxia symptoms are with me 24/7 and worsen at intervals. The real cause is still elusive😏xB


#10

Hi Anna!

Good to know you! Sorry to hear about you physical state, but glad to know yet another braveheart, who is putting up well.

I share many symptoms with you incuding the baseline muscle weakness, that mostly affects the right side of my body, especially the extremeties. But diamox works like a charm for me, save for the side effects. And yet i have been found negative for the gene mutations pertaining to ataxia.

A question: do you also find problems in formulating sentences (and i m not asking about dysarthria, i mean executive, not motor abnormaities). i find it too exhaustive to think and formulate my speech during episodes. I also have a funny pronunciation every now and then, esp during an episode. Of course, people do not understand that, and i am tired blaming everything on my medical condition.

Also, do you experience muscle twitches/fasciculations in your body (i feel them and see them in the right side of my body all the time). That is quite not a characteristic feature of Ataxia, and i am curious to know if anybody else has experienced that too.

Update: I have decided to quit research for the time being, and take an indefinite break as it has become quite challenging for me.

I wish you very good luck with your PhD. I think the build-up that you talked about is also because of the physical and mental occupations that we are constantly subjected to, in research.
For me, confocal, or any contrast based miroscopy even is a trigger, as my eyes seem to be particularly sensitive. So i realise, i might actually have to change my profession in order to be stably healthy… :wink:

Gud luck, Anna!


#11

Oh! and have you been tested for Multiple sclerosis?


#12

Hi Puja,

Glad to know that you are able to make a decision to take a break from your research work. It is not an easy decision to make but I think we should all be proud when we are able to make a decision like this.

In regards to symptoms, I do not have twitches to my muscles. Not once at all. So it is possible that our underlying causes can be different but we can still share a lot of common grounds in terms of coping strategies and subjective experience of the symptoms.

My right leg is most affected and then my trunk, and then my arm. Speech dysarthria is a rarity nowadays.

Since having this disorder, I realise how little research there is with cerebellum in Psychology. Yes I do encounter other language difficulty not associated with motor controls. I think cerebellum is important in mediating some kind of fluency in speech, especially internally generated one. One interesting I found is that when I have dysarthria, my speech is better if I read out loud from a written paper or repeated other’s words, but grossly impaired when I have to produce the sentence myself (even though I know how the sentence goes). My intuition is that cerebellum may maintain the cortical activation pattern/ mental representation. Also when I am unwell (without dysarthria), I am unable to do multidimensional reasoning. My thoughts become short, and fragmented. I believe sequential thoughts require some kind of latching behaviours among different mental representation, and I wonder whether this latching of multiple representation is supported by cerebellum.

Social interaction is difficult for me during an episode because social interaction demands a lot of attentional resource. I am impaired at social gaze when I am unwell because I have to concentrate on what I want to say. There are many subtle differences in my attentional controls and perhaps saccade and fixation (subjective feeling) now. My research interest is on attentional shift, with experiment designed for 4-year-olds and I feel I am unable to perform that task I designed when I am unwell. My attention definitely suffer, and cognitive flexibility suffers as well.

I am not a big fan of componential executive functions as I believe these functions are manifestation or emergent from lower level attentional system. Even that my intelligence is generally spared, I feel I may not do very well on many executive tasks.

With the eye problems, I cannot look at visual illusion patterns. Also nowadays visual scenes lose some kind of clarity to me even though I can see it clearly. The best way I can put it is that certain affordances are lost, and the visual representations seem more ‘flat’. I have multisensory problems so I have ear defender with me all the time. TV noises are not as disruptive as noises in space so I think it is the specific multisensory experience that is difficult for me.

After I graduate, I don’t know if there’s any postdoc position that can be taken up as PT. I still want to stay in academia. Or I don’t mind to be an RA at all.

I wish you well. I am doing well psychologically. I can still enjoy small things in life so at the moment I am content. What is most important is to look after our psychological wellbeing and stay healthy.

They did test me for MS but ruled it out. My episodes are too short to resemble MS. As you, I feel there’s a high chance that my genetic testing will be negative for EA2, mainly because I have no family history of it. But I have had lifelong insomnia and digestive issues, so sometimes I wonder if my problem is metabolic mediated or immune mediated. I do feel my symptoms have some association with what I eat at least. I feel with any disorder there are things we can do, and perhaps sometimes better than doctors. Coming from the science community I know how little researchers do know. There are always more questions than answers (which makes science awesome obviously). But I just cannot wait for everything to be verified, peer reviewed etc.

Glad to talk to you.


#13

Anna!

Agree with you on the cognitive experiences you wrote about…I think i get these symptoms in the interictal phase too, now (much dampened then, although).
Also agree on how little do we know about cerebellum, and its involvement in cognition. There, however, are few reports that point towards it. Take, for example, the case of the Cerebellar cognitive affective syndrome that explains how cerebellar lesions/damage could lead to loss of cognitive functions, including language deficits and overall lowering of intellectual function, among many others.

Chances of it being autoimmune-mediated are fairly considerable. Since i also have a confirmed diagnosis for autoimmune hypothyroiditis, i myself have many a times considered the possibility.
Would you want to pursue a research on the cognitive aspects of cerebellum, after you have graduated? :slight_smile:

(I would have, if i was still physically and mentally capable of doing dedicated research. However, in past 10 years, i have seen my case worsening, from episodes once a year, to once a month; and i need to stop now. Just two days ago i fell from a car seat, while just shifting my balance slightly towards the right, it’s not even funny or embarrassing anymore.)

Cheers,
Pooja


#14

Hi Puja,
I’d love to get involved with projects that involve cerebellum, unfortunately I am not able to move around the world for a post-doc place due to the commitment with my partner and my health condition. In this industry everyone is expected to move around every year or so. I am not gonna do that. I will try to get involved in projects that interest me, at the moment I am thinking about some ageing studies, and also the correlation between gross motor skill and attentional control.

I think it is wise to take a rest if your body is telling you so. I am sorry that your situation has worsened lately… I wonder how your reflex is? Although I often appear I was gonna fall etc, my reflex is still there so I never really fall.

My condition was absolutely terrible 2 months ago. Three or four out of 7 days I was pretty much house-bound. My brain was a mess and lack energy, and my motor control was terrible. Every trip to the office (once or twice a week) exacerbated my symptoms. I feel I always had an inkling feeling that my episodes could be brought on by carb. I know my n=1 experiment has no credibility but I am seeing marked improvement in the past 2 months since I went extremely low card (or almost zero carb). I now feel confident to go out most of the days. Even when I have symptoms I have more energy in my brain than I used to (note I still have attacks but they last shorter and a lot more manageable).

I know I sound like a snake oil salesman but if you have nothing to lose, this diet is worth a try. The thing is, my diet is not just low carb, but extreme low carb. My diet is 95% animal product and oil with only a spoonful of sauerkraut every couple of days, and half a avocado. Everyone is different of course, but at the moment I feel the best I can be, considering June/July I was very incapacitated.

It is tough. I cannot see myself going back to the normal diet anymore. I am sorry if this advice offends anyone. But I feel I need to share it even if it is just one person will feel better this way.

Take care of yourself. All the best.

Nowadays I just imagine what if I live in the world where everyone walks funny, then I don’t feel too bad or self-conscious. I have pretty thick skins anyway. :stuck_out_tongue:


#15

Thanks, Anna!

I will keep your suggestions in mind. In the end, we all just want to be healthy without risking too much with the side effects of the treatment. :slight_smile:

Good luck, yourself!!