Need a Mumsnet diagnostic team - possible neurological issue

[Covidcovid]

Ok so Mumsnet previously correctly diagnosed 19yo dd with coeliac disease, EDS and POTS. She also has fibromyalgia by the way.

I’m now thinking something else is wrong and that she’s getting fobbed off again.

She’s had some weird episodes a few times in the last year or two. Had another episode yesterday. So she woke up not feeling 100% but not too bad. She’s not anxious or stressed about anything at the minute. Uni work is going well, she seems chilled out.

Then about 5pm she felt very unwell very suddenly. Lost feeling/sensation in her legs and arms. She could still walk but very unbalanced. Slurring her words like she was drunk. Visual disturbances, with her vision getting brighter, flashing lights and then struggling to see. Could barely string a sentence together but was being quite verbally aggressive. After 10 mins started easing off. When she’s had these episodes before she’s “wiped out” mentally and physically for a few days.

She rang 111 and they said go to a&e. They were worried in a&e and think it might be a neurological issue. Bloods were fine, inc vit b12. Obs were fine.

We’re going to go back to the gp today and ask for a referral which is what a&e told us to do. I know the waiting lists will be awful so think we’ll have to pay privately to see someone.

Is there anything from these symptoms which makes anyone think we ought to ask for a certain thing to be considered or test to be done? I’m just worried because without Mumsnet suspecting EDS and me telling the doctor that’s what I thought she had she’d never have been diagnosed with that.

I'd be pushing for an MRI OP. DH got ill over the summer with a loss of sensation in his right side. First of all we put it down to a trapped nerve but it got progressively worse. Luckily his GP was on the ball and sent him for an MRI straight away. He has since been diagnosed with MS (albeit late in life at 37 - diagnosis is usually teens and 20s). His diagnosis was very quick - 4 months from his first symptoms. We are Greater London, so a busy and highly populated area but he has had two MRIs and seen the consultant twice.
I've learnt a lot about MS since his diagnosis. MS is an autoimmune disease. DH has a family history of colitis and Chrones (although these cannot be medically connected, they are all autoimmune diseases).
MS has so many symptoms which will be different for everyone but all of your daughter's symptoms need to be ruled out.
Best of luck and keep strong.

To echo a previous poster I would ask for neuro referral to rule out MS/CIS. I am under neurology for atypical migraine yet never have a headache! Mine present as floaters in my vision then pins and needles and numbness down my right side lasting anything from minutes to days. This can sometimes be associated with nausea and I have dizzy spells in the days before/after. Neuro have been massively helpful MRI to rule out things and lots of advice and got me sorted on a medication regime that means they are now very infrequent.

She spoke to a GP today to ask for a referral. He is worried she may have had mini strokes. He is going to do more tests before deciding whether she needs a referral or not. The nurse is going to ring back with an appt...so I assume blood tests?

Focal migraine!
I used to suffer with what you've described in my late teens early 20's
I had to be stopped from taking the combined pill as it's the oestrogen that causes it.
Not been allowed it since and have not had an episode since.

It would be worth getting a print out of the blood results and looking at “fine”versus optimal levels. UK “fine” for various things is considerably below other developed countries “fine”.

I was going to say B12 or iron/ferritin etc but I saw you were told they were ok. Coeliac can lead to many deficiencies until the gut heals.

Epilepsy?

She definitely needs some scans to look into it further and rule out TIA / MS. But bear in mind that the cognitive issues - struggling to find words etc - are also associated with fibromyalgia. It’s colloquially referred to as ‘brain fog’ which sounds a lot nicer than it is. So it may be migraine / fibromyalgia.

Migraine? Low blood sugar?

My ds who has hereditary spastic paraplegia went through episodes of this for years and we originally felt epilepsy. But the muscle spasms are the HSP he's since been diagnosed with and we've concluded the rest is migraine.

And it does wipe him out for days.

Be aware B12 levels can appear to be normal but active B12 can still be low. I had similar symptoms, poor vision, numbness, tingling, fatigue, brain fog etc, my consultant was convinced I had MS but it was my B12 levels.

Oh I read your post and immediately thought stroke. Although most of the symptoms sound like migraine, the issue with limbs and cognitive ability would point possible more to a stroke. Migraines are like mini (very mild) strokes, and I used to get them a lot but never lost feeling in arms or legs with them. Slurring words and not being able to think properly during a migraine and feeling exhausted for a day or two afterwards was common for me.

If not migraine/stroke, did all these symptoms ( POTS and fibromyalgia especially) start after HPV vaccines? There is a lot of literature mentioning a possible link (one here for example onlinelibrary.wiley.com/doi/abs/10.1111/ene.12272) but most literature that shows adverse events following vaccination are hard to find these days as they are considered "anti vax", even though they are factual, and removed from the internet.

I have PoTS and my son has hEDS and PoTS.

I have had multiple episodes with very similar symptoms and been sent to AMU a few times for it with suspected TIA’s. Lots of tests each time and eventually they decide that it’s atypical migraine. The episodes are exhausting and I need a few days of low-stress/stimulus bed-rest afterwards. The last time it happened, I didn’t known who I was or where I was and couldn’t speak without slurring really badly, which was really scary.

I do also have complex migraine and was under neurology for over 10 years before we found out I had PoTS. Had multiple brain MRIs and was tested for MS (mainly because I have multiple brain lesions and the symptoms were very similar) which was negative.

I’m not diagnosed with hEDS despite being hypermobile, as I’ve never been assessed for it, but both my mother and son are. I do however have neck instability and TMJ and have been told I need further investigations into that as a potential source, as they need to rule out Cranial Cervical Instability and possible CSF Leaks (I have had two lumbar punctures and two epidurals in my life though).

Word finding and memory issues are, unfortunately, common with both hEDS and PoTS. My son doesn’t have my neck, jaw and migraine issues, but he also suffers with these issues. He’s 16, nearly 17 and they have got steadily worse since he was diagnosed, despite his heart rate increase being well managed by medication. He has had to be taught at home since he was 13 as he is too unwell to attend school/college and exhaustion, brain fog, memory, processing and word finding issues are some of the hardest symptoms he has to deal with.

There is a study which has shown the above are known issues in PoTS and my son’s Ed Psych assessment for his EHC Plan seemed to back this up in his case. Cognitive and Psychological Issues in Postural Tachycardia Syndrome

How well controlled is her PoTS? Is she on any medication and how is she doing with things like salt/hydration/compression? Just wondering if hypovolemia is playing a part in her symptoms, as we know it’s an issue for us.

I would recommend joining the Parents of People with PoTS UK Facebook page, as there is a wealth of experience and knowledge on there, as well as people who can direct you to the best doctors/hospitals in your area.

Has she had an EEG? The fact that after 10 minutes she started feeling a bit better, but was very tired and the aggressive behaviour sound like a seizure.

She needs to start a diary of her day to day symptoms, video any further events, also make a note of any possible triggers or feelings/bodily sensations that happened right before any further events.

@Marmite2021

Oh I read your post and immediately thought stroke. Although most of the symptoms sound like migraine, the issue with limbs and cognitive ability would point possible more to a stroke. Migraines are like mini (very mild) strokes, and I used to get them a lot but never lost feeling in arms or legs with them. Slurring words and not being able to think properly during a migraine and feeling exhausted for a day or two afterwards was common for me.

If not migraine/stroke, did all these symptoms ( POTS and fibromyalgia especially) start after HPV vaccines? There is a lot of literature mentioning a possible link (one here for example onlinelibrary.wiley.com/doi/abs/10.1111/ene.12272) but most literature that shows adverse events following vaccination are hard to find these days as they are considered "anti vax", even though they are factual, and removed from the internet.

She was in Year 8 or 9 when it all started, so possibly around the time of the HPV. She got shingles badly and never seemed well after that but whetehr shingles was the trigger or a symptom of a medical issue I don't know.

@moosemama Thanks for the post. I'll certainly join that FB group.

She's on no medication for her POTS. She was diagnosed i the first lock down, given a leaflet and discharged. Hasn't seen anyone since. A friend has POTS and told her to drink plenty which I remind her about and on the whole I'd say she's good at doing.

She has never had an EEG. I do nag her to keep a symptom diary, food diary, etc but she doesn't.

I would also consider antiphospholipid syndrome. It can mimic so many things because tiny blood clots can cause reduced oxygen supply to tissues anywhere. Often mistaken for migraine and other neuro conditions. Requires clotting studies for diagnosis. I listened to a really interesting talk by Prof. Graham Hughes (Hughes Disease) and it was a catalogue of patients who had all been misdiagnosed with something else. I hope you get some answers. It sounds awful and very worrying.

Have a look at a website that lists the symptoms of Limes disease.
Some of the symptoms listed could match to that.

@Covidcovid PoTS can be triggered by a virus and, so yes, Shingles may be the trigger, although it’s a relatively common, but drastically underdiagnosed condition in teenage girls and more common in people with EDS. Some gradually improve and get back to a normal life by early 20s, others - like me, unfortunately are stuck with it, but you do learn to manage it and it does get easier. Personally I have had good, bad (ie bedridden) excellent and ok periods throughout my life. Eating healthily and trying to stay as fit and strong as possible definitely helps.

It’s actually a malfunction of the autonomic nervous system. So although lots of people assume it’s just tachycardia associated with standing and fainting or pre-fainting symptoms, it often involves a lot more. Migraines are very common among PoTS sufferers. The Autonomic Nervous System controls all the things we do without thinking, eg, breathing, heart rate, temperature, sweating, pupil control, gastro and bladder, so there can be all sorts of weird and wonderful symptoms (known as autonomic nonsense in our house!).

Fluid alone won’t help enough, as it’s not for hydration, but for increasing blood volume. She needs salt to help retain the fluids and increase her blood volume. Actually isotonic drinks, like milk, are better than water for hydration and if she will drink them, Nuun Sport hydration or other electrolyte drinks a couple of times a day will help. Compression tights will also help, although they need to be a high compression pressure and aren’t often well tolerated. My son manages knee high compression stockings, which I buy off Amazon - can’t remember the exact compression rating but it’s around 30ish.

Any exercise she can manage lying down (Pilates is good, as is rowing) that will strengthen her core and leg muscles will also help, as it supports the muscle pump pushing blood back up towards the heart and brain. (In PoTS, when you stand, blood pools in the arms, legs and abdomen, so doesn’t get pumped back up to the heart and brain effectively, which is what causes the pre-syncope symptoms and ultimately, fainting, as that’s the body’s way of restoring blood flow to those vital organs.) The brain fog and memory/cognitive issues make sense when you consider the brain isn’t getting enough blood flow.

Reducing carbs and eating several small meals a day instead of large meals is also helpful.

It’s not life-threatening, but it is horrible and difficult to live with, especially in the early days, while you are learning to manage it.

Diagnosing and discharging is unacceptable. She should be be monitored by a cardiologist, preferably an electrophysiologist, who can trial various meds if the non-pharmaceutical options don’t help. There are no licensed medications for it, but cardiologists/consultants can prescribe off label medications. Most people try a couple of different medications and doses before they find something that suits them.

Have a look at the PoTS UK website for more info and advice.

There are lots of different options to try to manage it and it’s trial and error to find out what works for each individual.

The rhematologist they were going to write to the GP and say a cardiology referral was needed. They thought she might have some issues with heart valves. I saw a copy of such a letter. But never heard from the GP or cardiology.

So not sure if just a massive covid backlog or the GP hasn't done it. I've told her to ring the GP and check and just get my head bitten off.

I think Covid is, understandably, causing massive delays across the board.

To be honest, when you feel as pants as PoTS makes you feel, the last thing you want to do is make phonecalls and chase people. If she writes a letter to her GP stating she wants you involved in her care, you can follow things like referrals and appointments up for her.

Not for everyone I know, some would prefer to hang on to their independence, but it’s been an absolute godsend when ds has been at his worst and needed me to advocate for him, as PoTS isn’t well recognised or understood by a lot of doctors.

Ds was in hospital for a scan the other day and we had the classic ‘oh these tall skinny boys do tend to faint don’t they’ comment from the consultant, which is usually reserved for teenage girls. He’s not even that tall at 5ft 8! You do find yourself having to educate a lot of health professionals about it, as many weren’t taught about it during training. Some of the younger doctors coming through are a lot more up to speed, but often still don’t get that it’s more than just a rapid heartbeat. Once when we were in A&E (ds had a habit of fainting at the top of the stairs and falling top to bottom ) explaining it to the on duty reg he and the nurse attending my son suddenly realised that the nurse most likely had PoTS herself! She had been fainting regularly during her shifts, had EDS and he had had to attend to her a few times.

If you join the FB group and let them know roughly what area you are in, someone will most likely be able to recommend a decent cardiologist she can ask to be referred to.

@Covidcovid Just a thought - but does your GP have an online request service at the moment? Some have put them in place due to the pandemic. Just wondering if your dd may prefer to email them or use their online form to ask if they’ve received the Rheumatologist’s advice, rather than call.

In my experience, no matter what consultants say in appointments or their clinic letters, nothing happens via the GP unless we chase them. I think a lot of letters just get automatically filed.

Usual treatment for PoTS is beta blockers and salt surprisingly - so if her diet lacks salt that could exacerbate things.

Sorry came across my post. It should read Lymes disease.

Afaik she’s never being bitten by a tick but I’ll ask her to ask about Lyme disease...thank you.