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

Pippa_ScopePippa_Scope Posts: 5,858Member Brian Blessed

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: 33Member Whisperer
    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 Whisperer
    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: 33Member Whisperer
    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 Whisperer
    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: 33Member Whisperer
     :(  :'(
    A laugh a day keeps the psychiatrist at bay. 
  • Sam_ScopeSam_Scope Posts: 7,348Administrator 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: 415Member, 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: 184Member, 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: 15Member 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: 257Member Chatterbox
    Hi idiopathic pulmonary fibrosis i no its not rare but no one seems to no what causes it is it genetic
  • Pippa_ScopePippa_Scope Posts: 5,858Member Brian Blessed
    edited February 19
    Great questions so far! @Jayne451 will be with us in about an hour to join in the chat :)
  • LaughingLollyLaughingLolly Posts: 33Member Whisperer
    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. 
  • nafelianafelia Posts: 1Member 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.
  • Jayne451Jayne451 Posts: 16Member Whisperer
    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
  • Jayne451Jayne451 Posts: 16Member Whisperer
    edited February 19
    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.
  • Jayne451Jayne451 Posts: 16Member Whisperer
    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.
  • Jayne451Jayne451 Posts: 16Member Whisperer
    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.
  • Jayne451Jayne451 Posts: 16Member Whisperer
    edited February 19
    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!!!!!!!

    [email protected]

    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 [email protected]  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.
  • Jayne451Jayne451 Posts: 16Member Whisperer
    edited February 19
    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.


  • Jayne451Jayne451 Posts: 16Member Whisperer
    edited February 19
    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
  • Jayne451Jayne451 Posts: 16Member Whisperer
    edited February 19
    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.  
  • Jayne451Jayne451 Posts: 16Member Whisperer
    edited February 19
    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.
  • Jayne451Jayne451 Posts: 16Member Whisperer
    edited February 19
    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,


  • Jayne451Jayne451 Posts: 16Member Whisperer
    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.
  • Jayne451Jayne451 Posts: 16Member Whisperer
    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.
  • Jayne451Jayne451 Posts: 16Member Whisperer
    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/
  • frecklesfreckles Posts: 257Member Chatterbox
    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
  • Jayne451Jayne451 Posts: 16Member Whisperer
    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.
  • PjDayPjDay Posts: 9Member 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? 
  • lneale20lneale20 Posts: 2Member 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 😊 
  • Jayne451Jayne451 Posts: 16Member Whisperer
    edited February 19
    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 [email protected] 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. 

  • Jayne451Jayne451 Posts: 16Member Whisperer
    edited February 19
    lneale20 said:
    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 😊 
    Hi @Ineale20 

    A good way to raise awareness is to work with others. I've had a look around and found a mutual support group - http://www.achalasiaawareness.org/ that operates in a number of countries including the UK. The Achalasia Awareness Organisation are supporting Rare Disease Day which is an opportunity to raise awareness of all rare disease. 

    Our Rare Disease Day 2019 awareness raising campaign,"illuminating the rare reality" is now live.  You can join in by creating a "virtual star" to share your own awareness raising message. By following the link below you will be able to see the stars created and shared through social media to raise awareness (there are 371 at the moment). You can create and share your own star there too if you would like.
    https://rarereality.raredisease.org.uk/

    To anyone interested in raising awareness I'd say please do join in with our Rare Disease day campaign - and look out also for other opportunities to get involved by signing up to our campaign and newsletter at raredisease.org.uk

  • Pippa_ScopePippa_Scope Posts: 5,858Member Brian Blessed
    Thank you so much to @Jayne451 and Genetic Alliance UK for giving their time and sharing their expertise here on the community! We really appreciate it. 

    The Q&A has now come to an end, but you can find their team on the Genetic Alliance UK website. You may also be interested their Rare Disease Day awareness campaign for 2019. Thanks to all members who joined in and asked their questions, and I hope you found this session useful!
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