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

Pippa_ScopePippa_Scope Posts: 5,703Administrator Scope community team

On Tuesday 19 February, we'll be hosting a Q&A all about rare diseases here on the community. Jayne Spink, Chief Executive of Genetic Alliance UK, will be here to answer your questions from 10am-11.30am, so be sure to leave your questions in the comments below. Jayne tells us about herself here:

My name is Jayne Spink, and I'm the Chief Executive of Genetic Alliance UK - a coalition of over 200 patient organisations. Genetic Alliance UK works with the genetic and rare disease communities to maximise opportunities for positive change, and to support and promote the wellbeing of patients and families affected by rare, genetic and undiagnosed conditions. We are the home of SWAN UK, which provides peer support to families who have a child or young person affected by an undiagnosed condition of likely genetic origin. We are also home to the Rare Disease UK Campaign, a community of over 300 voluntary groups and over 2,500 individual supporters. This year marks the 10th anniversary since Rare Disease UK's launch. Rare Disease Day, on 28th February, is the global community's annual opportunity to raise awareness of rare diseases and their impacts.

head and shoulders of jayne wearing blue shirt and smiling

I've been Chief Executive of Genetic Alliance UK for just under two years, but I can't remember a time when I wasn't completely fascinated by genetics and health. Growing up I set my sights on a career in genetic research and inevitably studied genetics at university, going on to a PhD followed by post-doctoral research - and then two unconnected happenings changed the plan. In late 1996, my first child was diagnosed at 14 weeks of age with an ultra-rare condition - and a little under 18 months later I accepted a job offer from the Department of Health to work on Genetics Policy - with a focus on gene therapy clinical research. Both my child and my new career brought me a lot of fulfilment and I've never donned a lab-coat again.

During my eight years with the Department of Health I had the privilege of working with and alongside patients and patient advocates, researchers, clinicians, regulators and policy makers on (to my mind) some of the most important developments in science and medicine. My admiration for the work of the third sector and the work that charities and voluntary groups do with and on behalf of their communities stems from those years. I have worked now in the third sector myself for over a decade; as Director of Policy & Research with the Multiple Sclerosis Society, and for the five years before joining Genetic Alliance UK, as CEO of one of our members, the Tuberous Sclerosis Association.

Do you have any questions about life with a rare or undiagnosed condition for Jayne? Leave them in the comments below and check back in during our Q&A on Tuesday 19th February! 


Replies

  • LaughingLollyLaughingLolly Posts: 9Member Listener
    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?
    A laugh a day keeps the psychiatrist at bay. 
  • CraftyPollyAnnaCraftyPollyAnna Posts: 10Member Listener
    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. 
  • LyndaMcKLyndaMcK Posts: 18Member Whisperer
    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?
  • ccjcccccjccc Posts: 1Member Listener
    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!!!!!!!
  • niknak7278niknak7278 Posts: 10Member Listener
    Hellooo!

    My very first post and how appropriate.  My daughter has CDLS (mutated) - apparently I’m the carrier (mosaic form).  We took part a few years ago in the genome 🧬 10,000 or 20,000 project (can’t remember which it was at the time). 

    It took 27yrs to get some answers.  To anyone still trying to get answers; don’t give up!
  • LaughingLollyLaughingLolly Posts: 9Member Listener
    Well thanks @nikkij83. I.personally am on my 26th year of searching and 30+ years of.symptoms. My daught daughter's search began a few years back. You feel hopeless and at times persecuted. The only hope is someone somewhere will think outside the box
    A laugh a day keeps the psychiatrist at bay. 
  • niknak7278niknak7278 Posts: 10Member Listener
    Well thanks @nikkij83. I.personally am on my 26th year of searching and 30+ years of.symptoms. My daught daughter's search began a few years back. You feel hopeless and at times persecuted. The only hope is someone somewhere will think outside the box
    Hello :)

    I can totally relate to that.  When daughter was a baby I was accused of not feeding her by a pediatrician.. in her notes he once referred to me as neurotic  just because I was relentless and wanted answers.  Turns out issues with feeding/eating are all part of the syndrome.

    Sending you and your family lots of love and luck. X
  • LaughingLollyLaughingLolly Posts: 9Member Listener
     :(  :'(
    A laugh a day keeps the psychiatrist at bay. 
  • Sam_ScopeSam_Scope Posts: 6,908Administrator Scope community team
    edited February 12
    Hi @gnmeads this is the post I mentioned in my email :)
    Scope
    Senior online community officer
  • Evvaa22Evvaa22 Posts: 1Member Listener
    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.
  • izaiza Posts: 410Member, Community champion Chatterbox
    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
  • Eadiesmummy1Eadiesmummy1 Posts: 90Member Talkative
    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 
  • Eadiesmummy1Eadiesmummy1 Posts: 90Member Talkative
    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
    i have trigeminal neuralgia, i dont know if its the same, i have bilateral type. i feel your pain x 
  • gnmeadsgnmeads Posts: 179Member, Community champion Talkative
    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.
  • CazannCazann Posts: 65Member Talkative
    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 @LyndaMcK. Have you been checked for HNPP or CMT? I have been diagnosed with HNPP, as have two of my sisters. I have another sister who has been tested but her results came back negative. The neurologist told her that although she has been tested and it's come back negative, he has not ruled it out.
    Your symptoms are the same as mine. Numb fingers, left hand and arm feels numb and tingly, also numb toes. My legs are often cramped and I've had falls. I have had numbness on the left side of my scalp but that has gone now. There are other symptoms but they are the worst. If I were you I'd ask for another test and find another neurologist if you are not happy, as some are not well up on it. My own doctor and that of my sister, hadn't heard of HNPP (Heredatory Neuropathy with Pressure Palsy) One of my sisters was even being treated for MS.
    Good luck and I hope that you can find some aswers
  • LyndaMcKLyndaMcK Posts: 18Member Whisperer
    @Cazann
    Thank you so much for sharing your own experience of this. I looked up HNPP and it said it is in fact Peripheral Neuropathy, which I have been tested for, with a negative outcome.
    Is it maybe that there are different causes of P.N.?
    Also, I don't remember getting any blood tests with that test. I was wired up to a machine while the operator passed electrical pulses to various parts of my body. The reaction from those parts of my body were recorded.
    Incidentally, my daughter has MS too. I experienced most of her symptoms too, but I don't have MS.
    I am glad that you and your sisters have been diagnosed correctly and I will definitely ask my doc about it next time I see her.
  • jonny1jonny1 Posts: 13Member Listener
    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 
  • CraftyPollyAnnaCraftyPollyAnna Posts: 10Member Listener
    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.
  • frecklesfreckles Posts: 197Member Chatterbox
    Hi idiopathic pulmonary fibrosis i no its not rare but no one seems to no what causes it is it genetic
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