Waiting for a diagnosis

[Helenhooter]

Hello one and all

I feel compelled to write in after reading the recent message about someone having been recently diagnosed with MSA after being treated for PD.

I have been 'unwell' for over 3 years. I have always exercised, completing half marathons and enjoying boundless energy. I started falling during runs, going up steps, playing golf etc. and thought little of it because I was so fit. The drs told me I had vertigo. I went back after 2 months asking when this would go. I was told 'oh it can't be vertigo if you still have it'. I explained that I felt unsafe crossing the road and reversing the car. I also had an extremely painful shoulder, which I wondered if I had damaged during one of my many falls. I was given a box of co-codamol and told it would probably go away. I perservered, had an x-ray, which showed no damage so went off to Australia to see my grandchildren. In Australia I discovered, I could no longer ride a pushbike, play football, play cricket, run without knocking my ankle bones until they bled and many other activities that I had taken for granted. On my return I paid for a private ENT consultant's appointment. He said that he did not believe that it was my ears and that the problem was more likely my brain. I had an MRI in October 2019 where I was told that I had atrophy of the cerebellum but that it was to be expected for my age (63 at the time). I was told by the neurologist that there were no more tests to be done and everything was normal, it may go as mysteriously as it came. At this point I had MRI scans, CT scans, ultra sound scans, lumbar puncture, blood tests etc. I refused to accept this and sought a second opinion. The latest MRI from March 2021 shows more atrophy of the cerebellum. I believe that I have cerebellar ataxia as a result of MSA. I tick nearly all the symptoms of the condition including ice blocks for feet, speech becomes slurred especially when fatigued or angry, pain in my shoulder, neck and back, unable to move from lying down, unable to get down or up from my knees, unable to write, unable to use my hands, I could go on and on with the issues I face daily. I still don't have a diagnosis and have become very cynical of the medics who tell me 'nothing is wrong'. I have also had physiotherapy for FND. I'm pretty sure that I don't have that. I have never fainted nor had a siezure. I am seeing a neurologist on Weds and hopefully I will get a diagnosis. I'm almost at my wit's end. Sorry for the moaning but thanks for reading. I am usually such a positive, sunny person.

Helen 😘

[vis1]

What a nightmare for you Helen. I will say that all the symptoms you describe, are ones that my sister had before she was diagnosed with MSA. However, she did have blood pressure issues but no seizures. Let's hope that the neurologist will be able to give you a diagnosis.Please let us know how you get on.

Vis.

[Helenhooter in reply to vis1]

Hi Vis

Yes I will do. I have low BP sometimes 90/57 but I've been told that's fine 😱🤣

[Helenhooter in reply to vis1]

Hi VisWell I had my appointment yesterday and they've lost the blood tests so they repeated them. My neurologist thinks it's highly likely I have MSA so they'll monitor me. He did some more tests especially on my feet which seem to have no feeling in them as well as being like blocks of ice! He did say that I have quite a bit of strength so keep doing the exercises 💪. My husband said if there's no treatment and no cure what's the point of wasting time at the hospital 😂I think I can understand his logic but by going I may help them get some insight into the condition and they may suddenly have trials for new medication. Here's hoping

Helen 😊

[Diane831]

My husbands first symptoms were of not being able to run when just playing games with the grandchildren, or to cross the road. He didn’t fall at that point but that was because he was fairly risk averse and careful not to put himself into situations that would call for it. Then an awareness that his speech wasn’t quite right, and then bladder issues. He too had the cerebellar changes, and fortunately just saw the right neurologist who recognised what was going on. He probably was only just over 12 months from being aware of symptoms through GP, referral to neurologist, change of consultant to Movement Specialist and possible MSA diagnosis. I am so sorry that you are struggling to get the clarity that you need, and I hope that the neurologist that you see on Wednesday will be able to join the dots one way or the other.

Diane

[Helenhooter in reply to Diane831]

Thank you Diane. I have always been very body aware having been an exercise instructor for 35+ years and a survivor of leukaemia and a bone marrow transplant nearly 16 years ago. I know this isn't normal 😂🤣😘

[Helenhooter in reply to Diane831]

I saw the neurologist yesterday and it's highly likely that I have MSA. My husband said if there's no treatment and no cure what's the point of wasting time at the hospital. I think I can understand his logic but by going I may help them get some insight into the condition and they may suddenly have trials for new medication.I'm not ready to give up yet!

Helen

😊

[Hidden]

My Dad was diagnosed with MSA when he was admitted to hospital after he collapsed. Prior to that for years he had slurred speech, unsteady on his feet etc. Every time I visited him (he lived on his own) I brought him food, good conversation etc. As soon as I tried to care for him in any way, he literally sent me away. He remains in Hospital and waiting for discharge into a nursing home. He accepts that he needs this. He had many years free from assessments, endless appointments, and waiting for a diagnosis. The GP knew little about him and that was just how he wanted it. Now with his MSA the neurologist has said that this is just bad luck and that nothing could have been done to change its pathway. The point I want to make is this: Worrying about what he has would have got him nowhere. He did what he wanted and when he wanted. No GP visits, hospital appointments just doing things his way. He will now go into Nursing Care where I will ensure he gets looked after as he deserves. Neurologist has suggested Genetic Testing which means I will need genetic counselling etc. No thanks. I’m going to live my life whilst I am able and not waste my time fretting and hoping. I mean this in the spirit of my support to you and send you best wishes. No one knows what the future holds and I intend to live each day the best I can. I’m grieving for my dad in so many ways but his spirit is strong and he laughs it off…

[Helenhooter in reply to Hidden]

It's an excellent reminder that we all need to take each day as it comes, thank you 😘 xxx

[Hidden in reply to Hidden]

Hello, I've never heard of genetic testing for MSA. If you'd be willing to post about that on another thread? Thanks Kx

[Helenhooter in reply to Hidden]

The genetic blood tests were, I think, for hereditary ataxia? I've not had any results yet. Thanks 😘

[Helenhooter in reply to Hidden]

Hiya I saw the neurologist yesterday and it's highly likely that I have MSA. My husband said if there's no treatment and no cure what's the point of wasting time at the hospital. I think I can understand his logic but by going I may help them get some insight into the condition and they may suddenly have trials for new medication.

I plan to keep going as much as I can!

Helen

😊

[CanAmK]

My husband has had genetic testing but it is to rule out MSA. Unfortunately, I think even seasoned neurologists are unaware of MSA. That's my husband's story. He saw a seasoned neurologist who said "I believe you that something is going on but I cannot tell you what it is." He also had cerebellar atrophy which may have been considered age typical (50) but he was given the option of going to a neurologist who specializes in movement disorders and she felt from the outset that it was unfortunately MSA. With that said, she can't do anything to help except as a side note my husband may be getting admitted to a drug trial. I say you know your body best and keep seeking answers.

[Helenhooter in reply to CanAmK]

Good luck for the drug trial. I'm willing to give anything a go. When I was diagnosed with leukaemia I went on a new drug called glivec (imatinib) unfortunately it didn't work for me ( I had a successful bone marrow transplant) but it's used widely now and works for many patients I'm happy to be a guinea pig 😘

[CanAmK]

Thanks I will keep you posted

[Helenhooter in reply to CanAmK]

😘

[Diane831]

Helen. I am glad that the Neurologist has given you that fairly sure diagnosis, that’s really as good as it gets at this stage! You start with possible MSA and then move toProbable MSA as the symptoms move in a direction that fit in with the picture.

You do need to be seen by the consultant to discuss symptoms as they arise and get the best treatment and referral to the right people, physio etc. You might find your GP is great, but mostly GP’s do what the consultant tells them! The MSA trust nurses are an amazing help in understanding symptoms and pointing you to the correct help. Do Join the Trust. msatrust.org.uk/

You do need to get on with living life to the best you can, do all the things you want to while you can and get the support team around you that you need. This isn’t an end, just the start of a new road - I hope that your husband is able to get his head around it soon, but everyone deals with things differently!

Best wishes. Diane

[Helenhooter in reply to Diane831]

Thanks so much, Diane 👍💪😘

[Drtowel]

As your son - I think your strength to battle illness is remarkable. Here to support you in every way. Never give up as you never know what’s around the corner. I like the comment that it’s not the end it’s the start of a new journey x

[Helenhooter in reply to Drtowel]

😘