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Rare and Undiagnosed Conditions Q&A: ask your questions now!

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  • LaughingLolly
    LaughingLolly Community member Posts: 100 Pioneering
    Hi @Evvaa22 I feel I'm in a similar situation. My breathing muscles are involved. All of my affected muscles flicker or spasm and some have gone either hard or separated and bobbly. I don't know what causes it and it's got worse in one year. I also don't know how to fight for answers as !h previous GP was insistent I was making it up so tried to get a psychological diagnosis. You can feel the muscles though - it's not really something anyone is doing but it's definitely palpable and even visible in places as the muscles clump together causing a smooth look to the skin. Because I have another diagnosis I don't get listened to. 
    A laugh a day keeps the psychiatrist at bay. 
  • nafelia
    nafelia Community member Posts: 1 Listener
    Hi guys, i suffer with HS Hidreitis supportivas  and had been undiagnosed for 5 years before finally knowing whay my condition is. Isuffer very much with pain, pussing wounds, sores and alot of discomfort. I class my  condition  as a disability due to how it effects me  and my ability to carry out certain daily tasks, i generally nwed assistant however  i have been reguse for PIP payments twice and find it difficylult to live is there any nateial remedies i can try ( i have tried loads already) and could you confirm if my condition is classed as a disabilty.
  • Jayne451
    Jayne451 Community member Posts: 16 Connected
    Good morning!  Hi - I'm Jayne. To say up front that I am not medically trained so won't be able to give any advice about treatments etc - but I'll do my best to point you in the right direction to information / professionals / organisations who can. I'm joining you on the run up to Rare Disease Day - check out our awareness campaign raredisease.org.uk/reality
  • Jayne451
    Jayne451 Community member Posts: 16 Connected
    edited February 2019
    I have a condition which I have always thought was underdiagnosed. It didn't bother me until my daughter started describing similar symptoms. Now iim having extreme difficulties getting heard. I just made a series of videos attempting to document my own condition or conditions  and can't help noticing how  similar I look to my dad before he died. How does one get heard?
    I have a condition which I have always thought was underdiagnosed. It didn't bother me until my daughter started describing similar symptoms. Now iim having extreme difficulties getting heard. I just made a series of videos attempting to document my own condition or conditions  and can't help noticing how  similar I look to my dad before he died. How does one get heard?
    Hi @LaughingLolly - I’d advise having a further discussion with your GP - video footage can sometimes be helpful to GPs  - particularly if symptoms are sporadic or intermittent.
  • Jayne451
    Jayne451 Community member Posts: 16 Connected
    Probably like so many who will contribute an account on this blog the story is much longer than you realise so my apologies immediately if I bore you all.

    The rare illness is Bickerstaff’s Brainstem Encephalitis 

    It is interesting to take into account that September 2017 was Sepsis Awareness Month Worldwide.

    On the 5th September my husband was complaining of passing water.  He started to feel unwell and was beginning to get a temperature.  On the 6th September one of my daughters went to the pharmacy for me to ask advice as to what would be the best thing for Brian, explaining he had a temperature now and also said he was only born with one functioning kidney. 

    The pharmacist explained to my daughter that there was a need to consult with the doctor immediately due to his age, temperature, condition and only one functioning kidney as she felt it may be more serious.

    She came back immediately to convey this message so I became seriously concerned that the water infection may be leading to something else.  I rang the surgery immediately and the doctor returned our call.  The indication was that he would see Brian immediately and take bloods as he agreed he sounded very unwell.  

    Brian got out of bed and left our home just after 10:00 am for a 10:10appointment.  My daughter took him for me.

    He was not there for long and unfortunately the doctor did not see him as he was sent in to see a nurse.  His bloods were not taken. In fact there were no basic checks taken, I.e. blood pressure, temperature, bloods or oxygen levels.  He presented profusely sweating but was sent home with a box of antibiotics and told to take paracetamol to get his temperature down.  The only thing they did was test the water that he himself took.  He was not requested to take a water sample.  The sample showed an infection.

    Several hours later at 2:15 in the morning Brian went into Toxic Shock.  I called emergency services, did my first aid.  Paramedics arrived and he was taken to hospital and put into an induced coma.  He was in this coma for nearly two weeks.  In the meantime his one kidney, (horseshoe kidney from birth) failed and he was on dialysis for several weeks.  His kidney eventually started to work again.  He was left with what they diagnosed as Bickerstaff’s Brainstem Encephalitis.  He come home from hospital not able to talk or walk.  There is obviously much more to this story.

    He is left with many strange symptoms which we have been unable to have answers too.  He has no trigger to tell him he is hungry, severe pain in his left ear, digestive problems, constant hiccups, severe balance, no coordination, poor speech, emotional problems, to name a few.  The man that went into hospital is not the one that came out.  He also suffers from extreme fatigue.

    He was in hospital for two months and they bandied around Terms Guillain Barre and Miller Fisher then eventually the settled on Bickerstaff’s Brainstem Encephalitis.

    It is extremely hard to find anyone else with the condition, or the support and information that would help.

    if you have managed to read this far I applaud you and thank you for just listening to me.  I am grateful for someone to man to.

    loads of love to you all whether you are the one suffering or you are the carer. 
    Sounds like a really challenging situation  - I am sorry to read how difficult a time you and your family are having. The Encephalitis Society have information and support which might be helpful to you or you can call their support line on 01653 699599.  I hope they will be able to help you.
  • Jayne451
    Jayne451 Community member Posts: 16 Connected
    LyndaMcK said:
    Hello Jayne and thank you for making yourself available to answer questions.
    For over 4 years I have been experiencing classic symptoms of Peripheral Neuropathy, however I was tested about 3 years ago and it seems I don't!
    I am 64 and have Spinal Stenosis and Osteoarthritis, but these symptoms affect my feet and my left arm and hands, where I have tingling, loss of feeling and pain when it worsens.
    Any ideas?
    Hi Lynda, Sorry to hear that your symptoms have worsened since you were tested. It would be a good idea to revisit this with your doctor.  NHS Choices carries some helpful information, in relation to peripheral neuropathy. This includes advice about symptoms and when you should speak with your GP about your symptoms https://www.nhs.uk/conditions/peripheral-neuropathy/   I hope this will be helpful.
  • Jayne451
    Jayne451 Community member Posts: 16 Connected
    edited February 2019
    ccjccc said:
    Hi there in the past 9 months my son, my daughter and myself have all been diagnosed with Townes Brocks Syndrome. There are obvious signs that have led to the diagnosis but it's the less obvious ones that I am struggling with as they seem to be numerous but due to the lack of knowledge on the condition it's like a minefield as noone seems to know or specialise in TBS. There are specialists that deal with generic conditions. It's leaving me frustrated as am continuously chasing and there's no one to ask it feels other than a facebook group, a group that has 100 people in it from around the world, can't exactly get together to chat!!!!!!!

    Hi@ccjccc, 

    Townes Brocks Syndrome is ultra rare - and as is often the case with the very rare there isn’t a support group already in the UK. Two thoughts: 

    Contact a Family have a freephone helpline for advice, information and, where possible links to other families.  Contact a Family's web-based linking service MakingContact.org can be accessed at community.cafamily.org.uk

    Also, if you are able to make contact with other families in the UK and you or others are minded to form a support group then please do get in touch with us at contactus@geneticalliance.org.uk  We have a programme of work that can support fledging groups and help them to get off the ground - we’d be happy to see how we can help.
  • Jayne451
    Jayne451 Community member Posts: 16 Connected
    edited February 2019
    Evvaa22 said:
    Helloo,
    I am undiagnosed with a neuromuscular condition. Both muscle and genetic testing don't show anything conclusive. I would like to know if there's any way of getting a diagnosis especially now that my breathing muscles are getting progressively weaker.
    Thanks.

    Hi @Evaa22 - sorry to hear you’re experiencing difficulties obtaining a diagnosis. Rare Connect have an online community for those with undiagnosed conditions - https://www.rareconnect.org/en/community/undiagnosed-diseases

    Worth maintaining hope for a diagnosis - a good place to start would be to discuss with your GP - there may be developments now or in the future that could increase your chances of getting a diagnosis.


  • Jayne451
    Jayne451 Community member Posts: 16 Connected
    edited February 2019
    iza said:
    Hi, thanks for organizing this. I have one question regarding my rare medical condition of trigeminal neuropathic facial pains I do suffer from. I would like to know how to make my rare condition to be recognized to the stage it could be placed in one of the group excluded from future medical assessments for ESA. Thanks Iza
    Hi @Iza - I’m not an expert in ESA assessments - but fortunately I can point you in the direction of people who are - I hope they will be able to help you. Disability Rights UK can offer information and support https://www.disabilityrightsuk.org/contact-us
  • Jayne451
    Jayne451 Community member Posts: 16 Connected
    edited February 2019
    Hello, i have trigeminal neuralgia, blepharitis, hemipilegic migraines, benign intracranial hypertension and a new left sided facial numbness, no eye reflex or leg reflex on the left hand side and tremors on my left eyelid. I am prescribed amitriptyline pregabalin topirimate aczetazolomide and hylotear eye drops as well as carbamazipene. Despite the medications i take i am still in a lot of pain. are there any alternative therapies i could try? Thanks, Laura 
    Hi Laura @Eddiesmummy1 , Sorry to hear the medications are fully effective for you. I'm not medically trained so I wouldn't be able to advise on alternatives.  The Trigeminal Neuralgia Association may be able to help.  https://www.tna.org.uk/ They have a helpline 01883 370214.  
  • Jayne451
    Jayne451 Community member Posts: 16 Connected
    edited February 2019
    gnmeads said:
    I have a rare condition called Simultanagnosia. The main symptoms are only having the ability to concentrate on one object at a time, problems with my short-term memory and overall slowness. I can see everything around me but due to the condition I might as well have tunnel vision. The condition is so rare I can't find anyone else who has it, so my question is : Who else has simultanagnosia? If I could contact someone who has it, it would be a great help to see how they cope with the condition.

    Hi @gnmeads - At Genetic Alliance UK we hear about a rare condition we hadn't previously known about almost every day - there are over 6,000 recognised rare diseases in total. Simultanagnosia is a condition we have not come across before and we're not aware of anyone directly in our network affected by simultanagnosia.

    I have had a dig around and there are a couple of groups that might be able to help you - I do hope that they will be:

    https://cvisociety.org.uk/about.php

    https://cviscotland.org/documents.php

    CVI Scotland in particular has some simultagnosia information online https://cviscotland.org/documents.php?did=1&sid=38&kws=Simultanagnosia.

    All the very best with finding the links with others affected by simultanagnosia - I hope CVI will be able to help.
  • Jayne451
    Jayne451 Community member Posts: 16 Connected
    edited February 2019
    jonny1 said:
    Hello I was diagnosed with cmt type x1 some years ago and not sure if my 14month old daughter would be the carrier of this disease is there anyway I can find this out 

    Hi @jonny1 - In the future your daughter may indeed want to find out her carrier status - and anyone with a family history of CMT who is thinking of having a baby can be referred to a genetics specialist for advice - this would be a future option for your daughter.  If you would like more detailed information or advice, could I suggest that you get in touch with Charcot-Marie-Tooth UK who are one of our members https://www.cmt.org.uk/cmt-and-you/cmt-and-family/   or https://www.facebook.com/CMTUK

    All the very best,


  • Jayne451
    Jayne451 Community member Posts: 16 Connected
    Just want to let everyone know I am sending you all big hugs as I am amazed at how many are suffering with such dinilitating conditions without much support.  Let’s hope this site provides some extra help and information,  Tjis is what I hope for my husband.  Even though we might not understand most of the conditions at least we can be a support to each other.
    Definitely worth saying  - I absolutely agree that support and community can make a huge difference. And a big shout out to all the voluntary groups out there, be you big or small, who help people find the information and support they need.
  • Jayne451
    Jayne451 Community member Posts: 16 Connected
    freckles said:
    Hi idiopathic pulmonary fibrosis i no its not rare but no one seems to no what causes it is it genetic
    Hi @freckles - When a condition has “Idiopathic” in front of it’s name this means that no-one knows (at least at the moment) what the cause of it is. I appreciate this might be quite a difficult or frustrating position to find yourself in.  You might find it helpful to be in contact with others with the condition in terms of finding information and support. The British Lung Foundation may be able to help you find a local support group if you would like to connect with others affected by pulmonary fibrosis.  https://www.blf.org.uk/support-for-you/pulmonary-fibrosis/support-groups  All the best.
  • Jayne451
    Jayne451 Community member Posts: 16 Connected
    nafelia said:
    Hi guys, i suffer with HS Hidreitis supportivas  and had been undiagnosed for 5 years before finally knowing whay my condition is. Isuffer very much with pain, pussing wounds, sores and alot of discomfort. I class my  condition  as a disability due to how it effects me  and my ability to carry out certain daily tasks, i generally nwed assistant however  i have been reguse for PIP payments twice and find it difficylult to live is there any nateial remedies i can try ( i have tried loads already) and could you confirm if my condition is classed as a disabilty.

    Hi @nafelia I’m sorry to hear about the challenges you have experienced - this must be very frustrating. Under the Equality Act 2010 you are considered as disabled if you have a physical or mental impairment that has a ‘substantial’ and ‘long-term’ negative effect on your ability to do normal daily activities. Further information about the definition can be found here: https://www.gov.uk/definition-of-disability-under-equality-act-2010 For further information and support you can contact Disability Rights UK: https://www.disabilityrightsuk.org/

    NHS Choices has information available on the treatment of hidreitis supportivas available here: https://www.nhs.uk/conditions/hidradenitis-suppurativa/
  • freckles
    freckles Community member Posts: 258 Pioneering
    Hi i have idiopathic pulmonary fibrosis and don,t think there is any family history of this illness but my dad died of lung cancer alls i no is nobody seems to no what causes IPF i no this is a progressive disease with as yet theres no cure and i no its not a rare disease but any help/ advice would be appriciated and why out of family of 8 i have got it
  • Jayne451
    Jayne451 Community member Posts: 16 Connected
    freckles said:
    Hi i have idiopathic pulmonary fibrosis and don,t think there is any family history of this illness but my dad died of lung cancer alls i no is nobody seems to no what causes IPF i no this is a progressive disease with as yet theres no cure and i no its not a rare disease but any help/ advice would be appriciated and why out of family of 8 i have got it
    Hi @freckles - When a condition has “Idiopathic” in front of it’s name this means that no-one knows (at least at the moment) what the cause of it is. I appreciate this might be quite a difficult or frustrating position to find yourself in.  You might find it helpful to be in contact with others with the condition in terms of finding information and support. The British Lung Foundation may be able to help you find a local support group if you would like to connect with others affected by pulmonary fibrosis.  https://www.blf.org.uk/support-for-you/pulmonary-fibrosis/support-groups  All the best.
  • PjDay
    PjDay Community member Posts: 9 Listener
    Hello,
    RE: Genetic risks
    I have SPMS and have two children, now adults, and they both have serious mental health disorders.
    One has autism, complex PTSD, with OCD, and the other has paranoid schizophrenia and autism. I have read research which states people with an autoimmune disease have a 45% chance of having
    a child with 
    schizophrenia so...
    Should people with MS be warned about this risk and advised not to have children? 
  • lneale20
    lneale20 Community member Posts: 2 Listener
    Hi Jayne. 

    Thank you for sharing your story. I have been diagnosed with a rare condition called achalasia for almost 5 years but still find a lot of drs don’t know what it is or believe me about it’s severity. How would you recommend that I raise awareness and belief in the medical world? Thank you ? 
  • Jayne451
    Jayne451 Community member Posts: 16 Connected
    edited February 2019
    Hi @PjDay
    I highly recommend the MS Society's confidential and free helpline service and would encourage anyone with concerns about familial risks and MS - or indeed anyone looking for support, information or advice in relation to any aspect of living with MS, to get in touch with the MSS. You can call their freephone number on 0808 800 8000, or by email helpline@mssociety.org.uk in writing to MS Helpline, MS National Centre, 372 Edgware Road, London NW2 6ND, or even speak with someone from the helpline face to face at the same address. 

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