Worried about my mum

[Murphy89]

Hello,

My mum is 59 years old and for the last 2 years has been in and out of hospital having various tests with neurologists etc because her balance and speech has been affected.

It took forever to get any kind of diagnosis, at first they said it is late onset cerebellum syndrome because in a scan her cerebellum is a lot smaller than it should be.

They also said it could possibly be due to a bleed on the brain but could not tell for definite. Now they have said she could have an auto immune disease which is attacking her cerebellum and they want to try a plasma exchange so see if this helps. Has anyone else experienced this treatment?

I just feel like the specialists are just guessing at the moment! She has had some speech and physio therapy that has helped a little with her speech. It is just the unknown that worries me.

Thank you,

Becky

[geneticallygeneric]

Hi Becky,

Has your mother received a diagnosis yet? She shouldn't have any treatment without getting a diagnosis first. Check for any genetic diseases by having a genetic test performed.

Good luck!

[Murphy89 in reply to geneticallygeneric]

Hello,

Thanks for your reply,

No she has not had a definite diagnosis, they think it could be an auto immune disease which is effecting the cerebellum but they aren’t 100% sure, they have booked her in for a plasma exchange which apparently removes most of the antibodies in the blood which can cause problems like hers but it just worries me, as you say to start treatment when there has not been a definite diagnosis but also relieved that they are finally trying something,

Becky

[neta]

Dear Becky,

I have had this plasma exchange also known as plasmapheresis because it was believed that the weird antibodies in my blood suggested an autoimmune mediated ataxia. The plasma exchange is painless and it was done in a hospital. I had 5 2 hour sessions. That is for nearly a week. Every a.m...it did not really affect my ataxia. Several years of IVIG treatments ensued... Now in 2oi8 my neurologist stands by his diagnosis half heartedly and the IVIG has been withdrawn..

[Murphy89 in reply to neta]

Hi Neta,

Thank you for sharing your experience...Im glad to hear the treatment is painless as this is what i was most concerned about. I am sorry that it did not have any affect on your ataxia. My mum has to stay in for a week to have the treatment as they tried to do it through the veins in her arms but they were too small so they are having to do it through the femoral veins in her legs instead. I really hope it has some effect and she does not have to go through this for nothing but it does seem like guess work at the moment! I also think its strange because her antibody tests and spinal tap results have come back normal.

Are you having any other treatment now for your ataxia? What are your symptoms if you mind me asking? My mum has had symptoms for 2 years now and finds speech and physio therapy has helped.

Thank you so much for getting in touch,

Becky

[Marz in reply to Murphy89]

Hashimotos or auto-immune Thyroid ? - has that been ruled out ? Thyroid anti-bodies can attack elsewhere. Also do you know her B12 level - if low then it can also be a cause of Ataxia. Also there is Gluten Ataxia ...

Sometimes the simplest things are missed. I have Hashimotos and a B12 issue from surgery and without self injecting B12 I am unwell ...

[Murphy89 in reply to Marz]

Hi Marz,

I have asked about her vitamin B12 but all her vitamin levels came back normal and most other tests did too...will double check about thyroid as not sure about that,

Thank you

[Marz in reply to Murphy89]

Sadly we all love to hear the word normal ! Did you see the actual result ? When Docs say 'normal ' - they usually mean - within range. But it is where in range the result falls. However with B12 it is better over 500 - otherwise neurological issues can arise. This is discussed in the book - Could it be B12 ? - by Sally Pacholok and there is a film of the same name - see link below. A bit smoozy in places but certainly gets the point across as to how B12 is so poorly understood . Please scroll down to view the Signs and Symptoms of Low B12 - neurological ones are first ...

b12deficiency.info/signs-an...

You will see Ataxia mentioned along with other issues. Also look at the Menu and under the heading Films you can view Videos - and see how serious B12 Deficiency is.

In the UK patients are legally entitled to have copies of all test results - so you can monitor progress and see what has been missed. See link below ...

nhs.uk/chq/pages/1309.aspx?...

I live in Crete so we have to keep all our own records - also means we can take them anywhere ! - to any Doc or Consultant. All surgeries in the UK should by now have patient records on-line - but sadly has not happened everywhere ...

My B12 bumped along at around 300 due to surgery for many years until I learnt more when I joined Thyroid UK. I now suffer the consequences - but am fortunate to be able to inject B12 weekly or more if required. We can buy them over the counter here and without a prescription - very grown up ! Dr Myhill drmyhill.co.uk says on her website that when we are over 50 we all need B12 injections due to lowered stomach acid as we age.

Even if her thyroid has been checked - they will only check the TSH in most cases - when the FT4 and FT3 is also needed for a diagnosis - rarely done and so many people are left struggling. Thyroid Anti-bodies TPO & Tg - if positive and can be a cause of Cerebellar Ataxia. Dr Datis Kharrazian is your man on that topic - he has a website and there are books ...

[Murphy89 in reply to Marz]

Thank you so much, i am going to print all of this out and get my mum and dad to have a read...I really appreciate it!

[Marz in reply to Murphy89]

Even if the suggestions above are not dealing with any cause - they are things that are worth checking for anyone's health journey as they are so often overlooked by Doctors who have their hands tied with Guidelines. Am wondering if you had time to look at the video about Dr Carr in the link above about B12 ?

[neta in reply to Murphy89]

Right. Indeed the plasmapheresis had no pain at all except for the two arm p-ricks at the beginning 2 place the needles.The procedure can lower blood pressure and once I fainted at the end of a session but was quickly revived. There is a neurologist in the UK who is something of an expert in autoimmune ataxia ; his name is Prof Mario Hsomething Long. He is in Sheffield. I now take amantadine because I developed Parkinson-like symtoms plus ataxia. My main complaints are severe balance loss plus vision and voice issues. I find nothing helps There is a fair amount of guesswork involved in reaching a diagnosis Be brave.. xoxo Neta

[Legs-alive in reply to neta]

Professor mario hadjivillassiou

[Murphy89 in reply to Legs-alive]

Thank you!

[neta in reply to Legs-alive]

Yes that is the name thanx xx N

[Murphy89 in reply to neta]

Thank you so much Neta, that is a great help...I will pass all of this on to my parents, i just don’t want to leave any stone unturned! I wish you all the best on your journey with ataxia too xx

[Legs-alive]

Hi Becky, I have idiopathic cerebellar ataxia, no I haven’t had this treatment, but after 9 years of tests & a lot of thinking this morning ast couple of months last week I cancelled 2 more tests I were due to have at Sheffield for my own sanity if nothing else! I’d your mum feels it will help her then all you can do is stand by & respect her decision, I have been very fortunate that my family have respected my decision not to go ahead with any more tests, I’m not saying never I’m saying not now. Wishing your mum & you all the very best for the future 😊

[Murphy89 in reply to Legs-alive]

Hello,

I completely agree with you. I think my mum is taking it day by day, and wants to try this treatment before thinking about what to do next, if anything at all...its so hard going round in circles! We will support whatever decision she makes, I just want to make sure we are educated in everything we can be that could make a difference.

Thank you for your kind words and wishing you and your family the best too xx

[neta]

Yes tell your Mom to bring along some easily eaten food like a granola bar. I stayed in my hospital bed but this can be done in those padded lounge chairs....Thanx 4 your kind wishes N