Undiagnosed and rare conditions
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Really keen to hear your thoughts

Joe254Joe254 Member Posts: 1 Listener
Hi everyone,

My names Joe, I'm 28 years old and I live in Glasgow, Scotland. 

I'm really pretty desperate and reaching out to anyone for some helpful guidance and support.

In Nov 2019 I started noticing a small spasm in my throat and thought this was the start of a cold or flu so treated with shop-bought medication. This small spasm progressed in the days ahead and got a lot stronger. It was impossible to speak during the spasm and my speech pattern afterwards was weakened. I sought advice from my doctor who simply referred me to get an MRI scan done and also see an ENT specialist. Unfortunately, the rate at which I suffer a spams increased dramatically and at this point, I visited the A&E for their advice. The doctors did some basic checks and witnessed the spasms but dismissed as likely signs of stress and fatigue. I accepted the doctor's diagnosis and would wait for my MRI scan appointment in the meantime.

Shortly after the New Year, I was arriving home after work and a small spasm happened again. This spasm then seemed to close up my throat and I was gasping for breath, then collapsed to the ground and blacked out. My mother found me fitting and called for an ambulance straight away and I was to the hospital that night.

In the hospital, I tested fine on my ECG test and CT scan but my MRI scan was different. I had previously been to see my doctor in 2016 due to spams in hand which he requested a Neurologist lookover in hospital. I was sent for an MRI then and the results noted that there were small white spots, but only normal wear and tear according to the Neurologist. The MRI scan this time had now shown the spots to have gotten larger.

I was in the hospital for around 3 weeks to complete different tests and observations. It seemed like different doctors found it hard to diagnose what was wrong. I completed further MRI, CT and EEG scans/tests. The doctors confirmed that they were not investigating epilepsy or anything life-threatening and were exploring other avenues for a diagnosis. They continued with countless other tests and monitoring.

It was during my hospital stay after the seizure that I noticed I was having small muscle twitches in both my legs and arms. During some reflex testing, the doctors noticed I had some poor coordination in one compared to the other. I was also pretty cloudy headed and felt a little weird walking sometimes. I was placed on Tegretol to help with motion and spams issues.

Doctors explained to me one day that they were looking at my diagnosis being a rare genetic disorder that is usually found in children rather adults. This genetic disorder affected the vitamin B group. The doctors seemed reluctant to disclose too much information. So I didn't note any name of the possible disorder. I was told it could take some to get the results from further tests due to their complex nature.

I was discharged from the hospital around a month ago now. I, unfortunately, seem to have gotten worse since then. The spasms in my arms and legs increased in strength. I've had a really weird rush of blood sensation across my body that seems to bring on nausea sensations, this gets particularly bad when walking or moving in general. I've basically housebound due to these progressions since my hospital discharge. I was in A&E recently because my whole body was jerking and shaking, it brought with a really terrifying tightening of my throat.

My doctors have increased my Tegretol dosage and simply to wait it out for the test results.

I'm really desperate to connect with anyone that perhaps has been through something similar?

The symptoms are tiring and terrifying at their worst which can be often and daily.

Thank you so much for reading, and I do hope this makes some sense to someone.


  • janer1967janer1967 Community champion Posts: 7,390 Disability Gamechanger
    Hello and welcome to the community. Im sorry to hear about your health condition and how it is affecting you. It must be awful waiting to find out the results from the test and get a diagnosis. Once this is complete they may be able to find a cure or at least medication to relieve the symptoms. Make sure you stay safe and if possible have someone around you who could assist in an emergency, maybe get one of those panic alarms or something some can alert the alarm if you fall for example. Sorry I don't have any advice on your condition but hopefully someone on here can help. However we are not medically trained so unable to give any medical advice
  • Frankie91Frankie91 Member Posts: 6 Connected
    Hi @Joe254,
     Really sorry to hear that you're going through such a difficult time. Hopefully you will be able to get a diagnosis and some form of treatment soon and begin to get some symptom relief. This all sounds really frightening and it is horrible being in the dark with what is happening with your own body. 
    It can be difficult to find others to connect with when your condition is rare. I have recently been diagnosed with non-epileptic attack disorder and found that there was a lot of crossover with people with chronic health conditions. I followed quite a few Instagram pages and found this really helpful to speak with other people who were also unable to work or leave the house much due to their condition and could understand and empathise with my frustrations. 
    If you felt as if you needed to speak to someone then The Brain Charity has a free help line which anyone can call to talk about any neurological based health problems. https://www.thebraincharity.org.uk/
    https://www.neurology-in-ggc.scot.nhs.uk/useful-links This website also provides resources and information on support groups based around your area for a range of neurological conditions that might be worth looking into. 
    If you get to a point health wise where you are able to leave the house then https://www.meetup.com/ is also a good place to check out. There may not be support groups specific to your health condition but there are often lots of well-being groups with a friendly and inclusive atmosphere. There are also mental health support groups such as https://www.aliss.org/services/mind-the-men-glasgow-0/ which may be helpful as coming to term with a massive transition in life due to illness can be really difficult. 
    Wishing you all the best and I'm sorry I can't be of more help. Please keep us updated and let us know if there is anything else we can do.
  • Chloe_ScopeChloe_Scope Scope Posts: 10,662 Disability Gamechanger
    Welcome to the community @Joe254! I'm sorry to hear things have been getting worse. How are you doing today? 
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  • 11190821119082 Member - under moderation Posts: 269 Courageous
    Hi joe do you want me to become your talking buddy just to listen to you 
  • 11190821119082 Member - under moderation Posts: 269 Courageous
    How are you Joe 
  • 11190821119082 Member - under moderation Posts: 269 Courageous
    are you feeling good joe
  • Sandy_123Sandy_123 Member Posts: 462 Pioneering
    @Joe254 hi Joe, how awful for you to be going through this, I hope the Drs can get to the bottom of what's going on for you. I don't have any advise for you unfortunately. I don't know if there is any information on Google to read. Hopefully you get it sorted.
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