My father (73) has a cerebral syndrome of unknown origin.
It started with occasional vertigo and imbalance more than 20 years ago. He had the attacks for days, sometimes unable to leave the bed, but always recovered completely. In 2017, after such an attack, the vertigo started to get permanent whenever he moved. He had falls, in one of them, 2019, breaking 9 ribs, 5 thoracic vertebra and 2 cervical vertebra. Since then it has been getting worse and worse. In 2020 he was diagnosed with disorders of the ocular motor system (double vision, nystagmus...) and in 2021 with gait ataxia. Last year, slurred speech was added to the list. The symptoms worsen in "boosts", especially in the winter months.
We had excessive diagnostic in three different specialized centers, MIRs, lumbal puncture, whole-exome-sequencing... with no definite diagnosis. There's a cerebral atrophy in question (some doctor's see it, others not) and 2022 inflammation of the vestibular nerve in question (again, some saw it, others didn't). He has no other diseases, takes no drugs...
For the doctors it's still in question if the origin is due to genetic, neurodegenerative, autoimmune or flammable causes, but they stopped searching because they have no more ideas what to look for.
He tried 4-Aminopyridin, Acetazolamid, Tanganil and IVIG-infusions without effect. Under cortisone he had paradox effects where the symptoms twice got better on day 3 of the therapy, but worsened significantly after that and only improved slightly again after weeks. He also tried a gluten free diet for 8 weeks and got himself tested for TG6-antibodies but was negative.
His first COVID-19 infection a few weeks ago triggered another "boost". Although "mild", he was not able to leave the bed or speak. He's slowly getting better, but we fear that he again won't be able to recover completely...
He is devastated. He cannot cope with not knowing where the journey will go to. He speaks about ending his life if it continues to get worse...
I am afraid for my father. And I am afraid for myself and my children. Since the birth of my youngest last year I have been experiencing occasional imbalance myself. I'm 39. Diagnostic has found nothing, it's on a level that can easily be explained with lack of sleep and back problems. Still, seeing my father getting worse and worse without real explanation does not help my own fears...
I'm writing all this because I hope that maybe someone has been experiencing similar symptoms or effects in regard to cortisone e.g. due to an autoimmune disease or the like... Please feel free to throw any ideas at me you might have, no matter how absurd they may seem. I'm not ready yet to give up on him...
Thank you!
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I have been so moved by your email. Your fathers condition sounds unbearable and it just reenforces the fact that there is still a great deal that the medical profession don’t know. There is no comfort in this but this site is there to give support in difficult situations. Just knowing that someone is experiencing the same as you is helpful.
That indeed is a soul destroying post. I can’t help with any diagnosis but my heart goes out to you it’s so complicated the human brain it’s unbelievable and so many brain conditions have very similar symptoms. All I can say is you’re doing a fantastic job through a very hard time so stay strong and keep your dad strong.
After so much intensive testing you must have expected a link to come up with something.
And..after experiencing imbalance yourself..it’s understandable you have particular concern.
The big problem is…sometimes the cause remains elusive simply because that exact type hasn’t yet been identified by research or…..it has been identified but is not yet at the stage of ‘patient testing’.
And ..Neurological conditions can have symptoms that ‘overlap’….making exact diagnosis a lengthy protracted process. Possibly why Specialists have had differing opinions.
This link gives you an idea of how difficult it must be to find an exact link, so many possibilities.
However, I guess the diseases with known gene defects should habe been found during whole-exome-sequencing...
My last hope goes more in the direction of an unfound autoimmune disease that causes his problems as a side effect...
After all, when you are in the "bucket" of IDCA/SAOA the cause could be anything from food intolerance to an unfound tumor. This bucket exists simply because the doctors cannot find the cause or it is to much effort to search for it...
I wish there would be someone like Dr. House in real life...
have they ruled out normal pressure hydrocephalus as I was initially diagnosed with cerebral ataxia because of sdifficulty walking and frequent falls. I was in a wheelchair for 2 years and then a new neurologist did a lumbar puncture and as soon as the CSF was withdrawn I could walk round the room and had a VP shunt inserted in 2016 when I was 77 and have been fine ever since but many people are not diagbosed and end up in care homes as they are wrongly diagnosed with dementia so good luck. oftden you have to keep pushing. I can walk indoors fine but use a walker outside. am now 85 and OK. all the best Sylviax
So it's not unusual to be in a turmoil, many of us are. In the UK I would suggest contacting BANT the British Association of Nutritional therapists to find a knowledgeable therapist in this area, don't know if Germany would have the equivalent. They can test privately for gluten and cross reactive foods often using CYREX in the States for testing. Rice is a common one , then you can rule out food causing systemic inflammation that can cross the blood brain barrier and effect the cerebellum. 8 weeks is not long enough to rute out gluten as a cause. This approach might benefit you too.
Here in the UK doctors and some neurologists do not believe that gluten and other foods, usually grains, do not cause neurological conditions
There is a lot of research out there to say otherwise and gluten sensitivity can be hereditary. Check out Coealic UKs website and Professor Hadjivassiliou at Sheffield, our top man in the GA world and autoimmune.
It's worth going down this route if all testing so far has given you no answers.
sylviagreenhalgh : Your story is very inspiring! My father had two lumbal punctures. I do not know if they also checked the pressure, but would the procedures itself already show some sign of improvement like they did for you?
penelope2 : You are right, none of the doctors we met in the ataxia centers took gluten into regard. That's why we had him privately tested for Transglutaminase 6 IgA and IgG autoantibodies in a specialized lab. The results came back negative. That should be enough to rule out the gluten ataxia, shouldn't it?
However, since there are some signs for a flammable cause it could be worth to find someone that can rule out other cross reactive food as a trigger...
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