Help - anyone recognises this strange illness?

[Wobblyheart]

Hi everyone.... here I am wondering whether I will see my 5 month old baby grow up and trying to navigate some sort of roadmap of dealing with the uncertainty.

I am 37 years old and for a few years had some minor aches here and there. In autumn 2021 I started having some pins and needles and burning like sensation in my back but after clear mri brushed it all aside and went on to be happily pregnant.

Towards the end of the pregnancy in August 2022 I became short of breath (was told it happens!) and then my arms started feeling rather weak and weird. After my baby was born my health started to decline - I lost a tremendous amount of weight, and now have muscle weakness all over my body. I also developed lightheadedness and the whole body feels wobbly, slightly like not my own, and extremely heavy - like lead - like something pulling everything down and a big elephant is sitting on my chest. Jumping and running are almost impossible, I feel just pinned to the ground. Any household chore makes my muscles hurt.

i find it hard to stand - it is more difficult to breathe that way, and my movements seem odd. I noticed it became more difficult to type as if I just came back from walk and my hands are bit stiff from the cold.

also after pregnancy I constantly feel the urge to wee - and when I go only small amounts come out.

UTI has been ruled out, my thyroid function is normal, my vitamins and full blood count are normal.

Help! My weakness progresses so much I find it profoundly difficult to look after my baby, not mentioning that I am wondering what is going to happen with me.

is it a muscular dystrophy, some progressive disease? Has anybody felt anything similar? So scared of something serious and just wanted to see if there are any other possibilities rather than horrendous diseases?

thank you for all who spares a thought ❤️

It's good you are now getting specialised tests, OP. Wishing for the best.

@MrJollyLivesNextDoor they said a couple of weeks. I am
just crushed. It’s not something I was aware that was running in my
family but now thinking back to it my father had fatigue and problems walking, he died at age of 58 due to heart condition and we always thought it was just that. And I look at my boy and all of my worried of him being floppy just fit now. I read myotonic dystrophy leaflet from uk charity and it also just reads like a copy paste of my condition. I am sorry I am ranting here. I try to take things day by day and find joy nevertheless but it just crushes me now and then. Forget me; but my little boy should not have to have this disease, he is so beautiful and innocent.

OP you need to stop diagnosing your baby with a condition you yourself have not been diagnosed with by any medical professional, and may very well not have. I strongly feel that people should not be encouraging you in this.

@TheYearOfSmallThings i wish I was. I did not share an update earlier in full. The neurologist who I saw confirmed that I have muscle wasting. He does not think it’s MND but leaning towards muscular dystrophies. I would gladly take pretty much anything for it to be in my head but it’s definitely not.

I am not suggesting you have no symptoms, but I am absolutely saying you should wait for a confirmed diagnosis of some kind before starting to believe that your baby has muscular dystrophy because (being a baby) he has not yet developed full muscle tone.

Neurologists order tests based on their examination, and on the symptoms experienced by the patient. It is important to wait for the results of the tests and, frankly, the neurologist should not have indicated a diagnosis before having those results (if indeed they did so, as opposed to saying "these are the conditions we will be investigating").

@Wobblyheart if you can, perhaps for now draw on the positive that they don't think it's MND.

Regardless, it must be devastating and frightening but hopefully you will know very soon.

Did you discuss your concerns regarding your baby with the neurologist?

Been thinking of you @Wobblyheart . I think it's totally normal and understandable to mull over the potential diagnosis.

My experience was that the the neurologist examined me and took a history and said he thought it was most likely myasthenia and explained the tests they would be running to investigate/confirm the diagnosis... So it doesn't sound improbable that the op had a similar conversation with her neurologist.

Of course I was aware of potential differential diagnoses but actually I don't recall the neurologist mentioning them , it was more from my own reading.

@Wobblyheart Thinking of you, OP, how are you doing?

@CrunchyCarrot thank you for your thoughts. I don’t even know where to start.

so I had NCS / EMG done. Both came out normal. The neurophysiologist said that this would exclude the muscular dystrophy as this would be evident on the emg. He also said it was not miasthenia gravis and that sitting there on that day I did not have MND.

this was of course extremely reassuring to hear however now couple of weeks passed and I just continue to slowly getting worse. I am losing my general strength , getting up from the floor : climbing stairs is difficult. lifting and holding my
baby seems to take more toll on me. My breathing is pretty bad - I constantly feel the air hunger and as if I can not take a deep enough breath. I twitch everywhere, including lips, jaw and cheeks. I feel so fatigued I am on the very edge of my physical abilities and barely coping every day. There were a few days that I skipped weaning just because I am so shattered.

i also read that sometimes EMG can be clean when MND just starts or in some other presentations so it is not a definitive test. So with everything that’s continuing to happen I am losing hope. It seems that MND matches up more than anything else now the muscular dystrophy has been excluded.

I feel like a hypocrite as well as I really did not want my baby to have muscular dystrophy but now i think that at least it was slower progression.

i am back to the neurologist and got an appointment with a new gp in hope that they can somehow get to the bottom of this. But every day I just counting hours to when I can lay down. And every morning I cry because it is so difficult to get up.

I have been searching mumsnet seeing if anything else can explain my state and long covid sort of fits. however I then realise that my initial symptoms started well before I had covid and my chest x ray was clear with no sign of infection or scarring so that can’t explain breathlessness.

i am ashamed to admit I have started having suicidal thoughts. I have reached out for help, I have started anti anxiety pills but there is not much relief from the desperation and every day physical torture . Even sitting in a chair feels like running marathon. I am so scared and sad and angry.

Oh @Wobblyheart I am so, so sorry you are going through such a terrible time, especially not knowing what is wrong. At least if you know you can get some kind of plan of action.

I think Long Covid sounds like a stretch, your symptoms sound far too serious to be that. I hope your partner is being supportive, although this will be incredibly hard for him as well because it's awful not being able to 'fix' a partner's suffering.

I know you must feel exhausted (thyroid disease has been bad enough for me but I expect that's nothing compared to what you are going through), but do keep trying to reach out for both help with depression/anxiety and also just trying to get to the bottom of all of this.

You're in my thoughts and prayers.

Did you get your bloods and vitamin D checked? Sorry I can't remember. If you have any money I'd go to a private hematologist and ask them.to check over your bloods and then recommend what other bloods you need. I think it's got to the point where you need someone else looking into this. The nhs are very slow with cronic conditions

@IncessantNameChanger yes a lot of bloods were done and normal. I went private to neurology and can’t really afford more than that.

i am losing any hope as well as the diagnosis will only change the fact that I might be able to get a nanny for my boy. Not something I want to do. It’s all just so cruel. To get a baby that I wanted for years only to deal with something so awful as this. I am so jealous of all other mums, they go out for clubs and walks and I barely function. I get it, I am not special and that people get sick and die but I just having a great trouble with accepting this.

I don’t see how any amount of therapy can change the fact that people face horrendous lives. I hate it, I absolutely hate it.

But who has eyeballing your bloods? My gp said my iron, vitamin D and kidney function are all fine. Consultants disagree. They are all within normal range but none of them are OK. For example my kidneys are fine on bloods but I am kidney failure range. The gp is just looking for alerts from the lab. There are none for me.

@Wobblyheart I recommend you join an MND forum, there you will be able to describe your symptoms, tests you've had and so on, and you may find people who can give your their own stories and how it started for them. It may help point you in the right direction to either get a proper diagnosis, or perhaps rule it out. You're not going to get that on MN.

https://forum.mndassociation.org/

Sounds awful OP. Especially the not knowing.

I am so sorry,.it must be really frustrating not having answers yet.

When's your next appointment? Hopefully it isnt too long to wait

It's worth mentioning your suicidal thoughts to the GP they will be understanding. I had awful PND after my baby was born and they were very supportive. And also please call Samaritans if you need to. I had some very low days when my illness was at its worst but they don't last.

You aren't on any medication are you? I have just spent a couple of months going rapidly downhill only for my doctor to figure out it was a bad response to my medication (steroids).

I wish people would stop encouraging the OP to self diagnose. It is really not helping the situation.

Well it massively helped me in similar circumstances, when doctors just were being dismissive. We aren't encouraging her to self diagnose but to explore things she can then use to advocate for herself with doctors.

The OP has been advised to join MND forums when she has recently been told by a neurophysiologist that she does not have MND.

I genuinely think it is unhelpful to the OP's anxiety and depression.

We get a fair number of people joining the myasthenia forum who have GPs or neurologists tell them they definitely don't have it and talking through on our forum helps them. In some cases they absolutely do have it as there are a fair amount of false negatives in the tests.

I think it sounds promising that they don't think op has MND but I think she should feel able to seek support and look for answers

Very low vitamin D levels can cause your symptoms.

Okay well I will leave you all to it, but please remember the OP is not you, and pay attention to other things mentioned in her posts about her life, family etc. I am particularly concerned that after becoming convinced that she had MD (partly due to support from this thread) she diagnosed her baby with the same condition based on his entirely normal infant muscle tone. This should not just be accepted and supported without asking what is really going on here.

Thank you for putting my thoughts so succinctly TheYear.

I do hope that you get some genuine help and some kind of diagnosis OP.
Sending you love 💐

Can you fuck off. Your contribution is really unhelpful and invalidating of the OP. She is obviously an intelligent adult who is quite capable of reading information and making her own mind up and she's not going out on her own, she's obviously consulting with medical professionals while doing some of her own research.

This research is not making her depressed it's her debilitating fatigue and deteriorating health with no answers that is doing that. I now because I've been there.

I spent years without a diagnosis with health gradually failing and it's terrifying. The not knowing is awful. Some people may be able to sit there passively deteriorating while waiting for someone who knows what the fuck they are doing to show up, or for someone to hit on the right test after the long NHS process of let's look at one thing at a time, but that's not for me and obviously not for the OP.

I did my own research (which as an intelligent adult I am quite capable of doing), identified the likely causes of my health issues, and learnt more than most health professionals I come across about the condition I was eventually diagnosed with. I learnt that I needed to be able to advocate strongly for myself to receive appropriate healthcare and treatment and find the right medical professionals who knew what they were talking about (and weren't rude, patronising or dismissive!).

After many years I got there. I am not 100% and probably never will be but I have quality of life now. If I had just sat at home waiting for someone else to do something I suspect I'd either be completely not functioning by now or dead.

So please fuck off and leave the OP alone to do what she needs to do.

OP I am sorry you are going through this. I really hope you find the answers soon. Try to hold on. Do you have any resources to support you with how you are feeling? It might be helpful to talk to someone irl.