Sticky Blood-Hughes Syndrome Support

Research into why autoimmune conditions take so long to get diagnosed

Hi

Ive got a meeting with a university head of department next week concerning a possible research collaboration on a report into why APS and other autoimmune conditions can take so long to get diagnosed and what can be done to improve the situation.

tbh my brain is not working great now (multiple lesions, possible hypoxia, several autoimmune conditions) and it will not be the quickest or best piece of research in the world! But for obvious reasons I feel passionate about this subject and pushing through the brain fog to get this research done.

Im posting this post as I wondered if the charity and/ or individuals on this forum might be interested in being involved in some way. I know that MaryF had a great idea some time back for a book on seronegative APS and I thought that this report might help to address some of the unmet need that that book would have been aimed at.

I know that there are a lot of us in the diagnosis limbo boat and a lot of people will have important stories and ideas to share.

Anyways, just thought Id mention that Im doing this and see what people think.

Thanks a lot.

R

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Fantastic that you are pushing yourself and research to help and understand.

For me, my APS, was initially missed due the year(s) my first stillbirth, late eighties.

My APS after my strokes were left undiagnosed due to negligence from my neurologist - the 1st blood test was done each time I had a stroke, positive but never followed up with the 2nd test. This was in 2000 & 2003.

I self diagnosed by seeing an article in a magazine then followed through with doctors.

I am happy to help you in any way, just let me know?

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Thanks Holly.Im very sorry to hear about your loss. And to hear that you had such a tough time getting diagnosed. There are some brilliant neurologists and some who would have been better choosing a less demanding area of medicine.

And thanks thanks a lot for the offer to help. If the uni are agreeable to the project, then any help would be really welcome.

Thanks

R

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Hi - after you have your meeting and have a clear idea what the Uni are offering in terms of research etc, please contact me at the charity on hello@ghic.world and we can see if we can help.

Thank you for being so positive with this as it's the only way that we can drive forward with awareness. Lynn

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Thanks Lynn, that's great. I will do for sure. R

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I have a research background and would be happy to help.

Good luck with your initial meeting

Julie

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Thanks Julie. That would be brilliant. Funny thing is that I no longer remember much about my own subject (employment and equality law), even though I was writing articles about it last year. Its like someone has stolen the library from my brain. At least I have a clean slate for a new subject (autoimmune diagnosis)!.

R

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My field has always been Health, but in more general terms, eg impact of community care initiatives. I fully understand re thinking, horrendous time this year with migraines, just had Clexane dose increase and for once can report improvement.

Seriously, if I can help in any way just shout.....

Julie

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This sounds promising. I can only help by telling an all too familiar story like many of us will. I suspect we will be surprised just how common the themes will be.

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Thanks Kelly. Telling your story if this goes ahead would be great. And I think establishing common themes will be an important part. Also hopefully identifying these themes should point towards solutions of wide benefit.

R

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Great idea, thank you for thinking about us. MaryF

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Thanks Mary. Its a very good community here I think.

Also my novelty purple legs pretty much keep APS at the forefront of my mind!

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I am very interested in this aspect. Unless a young female presents a malar rash, positive ANA and lupus nephritis, a diagnosis of 20 years+ is not uncommon.

At the same time, SLE is a very difficult disease to diagnose, even with an expert because it is called "A Disease of 1000 Faces" ie it can mimic almost every disease known. After 18 months, Dr Hughes diagnosed me "officially."

Giving a patient the wrong diagnosis is serious as this may lead to a breakdown in trust between patient and doctor. A delay of "watching and waiting" is often necessary in diagnosing lupus, since symptoms develop over time. For example, anxiety, depression, even phobias can pre-date physical symptom.

Some autoimmune may be easier to diagnose than others, so it depends on a variety of factors. Even without an official diagnosis, treatment is nevertheless given to the patient. There is also the fact that some patients have more than one autoimmune condition eg SLE, APS, Sjogren's etc

Please keep me posted and I would be very interested in hearing more details.

With good wishes,

Ros

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Thanks Ross. I think all the issues that you refer to will be very relevant. And I will keep you posted for sure.

best wishes

R

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Hi

and thanks for all you are doing about earlier dx I would be happy to help you with my story of very late dx

Pappp

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Hi Pappp and thanks alot.

This is just a crazy idea and please dont worry if not possible. But it just dawned on me that bringing to the meeting (tomorrow) an example of someone's story might help to convince the uni dept that the project will be viable and interesting.

Any chance of jotting down a quick account of your story (one page would be fine) that I can take along tommorow. Maybe could be copied and pasted from soemthing you have posted in the past?

Its no notice at all I know and so no worries at all if not possible.

R

ps to reiterate, it was just an idea that jumped into my head when I read your reply. So really doesnt matter if its not posisble.

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My symptoms began inmy 20s

I was finally diagnosed in my 60s 2 years ago when I saw a different GP in an emergency appointment She was so thorough that looking back over my hospital admission results ( 3 years previously) she noticed a positive result for cardiolipyn . I was referred to a rheumatologist who has been looking after me very well since then .

In my 20s I suffered late miscarriage and prem baby and a child who has autoimmune disease ( Crohns) I had sever headaches and episodes of partial vision

I was told in my 30s that I had a "strange" antibody result when I had the routine blood tests as I started my training as a registered nurse this was not followed up

In my 40s I had TIAs which gave me visual disturbances MRI scans were inconclusive no follow up no meds prescribed

In my 50s I had a PE which showed scattered emboli Once again no follow up and no meds

In my late 50s I had a full CVA with good follow up in the first year and anticoagulation meds as well as antihypertensives and a statin my raised cardiolypin Ab was ignored

I continued with many Sx which could be attributed to my stroke but as the home testing of my BP was persistently raised My husband threatened to take me to A&E if I didn't get to see my GP which was when I saw the Dr who finally took notice

I find living with Hughes is challenging and at times totally debilitating .ihave to say though one of the most difficult things is explanation to others about how it makes you feel .i have a constant jagged eyesight with everything sort of rushing towards me and often feel that I am falling sideways, also extreme tiredness and difficulty speaking

Thanks to thi forum have found out lately that the leg pain which is so severe is probably due th Hughes and that the rushing In my head and the kaleidoscope vision could be due to raised ICP I have no confidence that this will be taken seriously by my Consultant ,however ,I will put it to him

Thanks Charlieab Hope is useful

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Hi Papp

Thanks a lot. That was really useful. Though Im sorry that you had such a struggle and a wait to get diagnosed.

And I understand the vision thing I think. I went to a meeting today and later to a voluntary sector cafe and thought that they had shut the counter as my vision made the opening look black rather than being an open opening with a kitchen behind it and a woman standing there with a tea pot smiling. I said to the person I was with that it was surprising that they had shut so early and he gave me a kind of "are you kidding?" look. Strange things like that keep happening. If I ddint know I was sane Iwould think I was going mad!

best wishes and thanks again.

R

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I have posted details of my diagnostic nightmare in the past - but since I have been active on this site for years and years, it will be daunting to find it.

First. I am in the US so this may not reflect ( hope not! ) attitudes on the more hymane side of the pond.

A summary of the delay in diagnosis would revolve around refusal of local docs to communicate and trust each other, as well as office staff who seem to make editorial decisions about which test results should be logged in. AND!!! A fear/belief by my local docs that autoimmunity is all psychosomatic, and patients displaying a melange of symptoms must be either making them up to get attention and sympathy, or, in order to confuse a doc enough to make an error which would result in a malpractice law suit.

Again, as I have noted before, I got my diagnosis after the doctor husband of a high school friend suggested I travel to his city to consult with a hematologist he knew. The details of the astounding miscarriage of my case only emerged after my accurate dx and treatment with warfarin. I’ve lived ( mostly) happily ever after. Except: I no longer trust local docs here in West Virginia. They’re OK for yearly check ups and occasional flu or infection or orthopedic emergency,but for serious consults or surgeries I travel out if state to Duke or Cleveland Clinic. ( and even for minor procedures I have had issues.)

So, my experience summary — the details of which I would be happy to share if needed — is Paranoia! And denial! Doctors see patients with challenging symptomology, i.e., “zebras,”as enemies!

( If I am making up stroke symptoms and confusing my blood work by some sort of mental trick, would someone please tell me how I am doing this? I could patent the procedure and be a millionaire in less then a month!)

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Thanks Gina. Im sorry that you had such a tough time to get diagnosed. Im sure elments of your story chime with folk in the UK. For some time the GP said that my depression had caused all my other symptoms, rather than my rapidly worsening symptoms having caused depression for the first time in my life. They eventually dropped this stance when the MRI showed multiple lesions and my hands swelled up and legs, arms etc started turning purple.

Though, "funnily", the GP suggested at one tme on the phone that I could have imagined the swollen fingers (again a depression thing) until I pointed out that his colleague had seen them and diagnosed the swollen fingers and they were still swollen. Similar to what you say, I felt "does he think that I have some how made my fingers swell on purpuse". It can be a long road and a miriacle if we still have our sanity at the other end.

Anyways, would it be ok to print out your post and take it with me? I would remove your name of course.

Best wishes

R

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PS no worries if you would prefer me not to take your redacted post in.

R

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My symptoms began inmy 20s

I was finally diagnosed in my 60s 2 years ago when I saw a different GP in an emergency appointment She was so thorough that looking back over my hospital admission results ( 3 years previously) she noticed a positive result for cardiolipyn . I was referred to a rheumatologist who has been looking after me very well since then .

In my 20s I suffered late miscarriage and prem baby and a child who has autoimmune disease ( Crohns) I had sever headaches and episodes of partial vision

I was told in my 30s that I had a "strange" antibody result when I had the routine blood tests as I started my training as a registered nurse this was not followed up

In my 40s I had TIAs which gave me visual disturbances MRI scans were inconclusive no follow up no meds prescribed

In my 50s I had a PE which showed scattered emboli Once again no follow up and no meds

In my late 50s I had a full CVA with good follow up in the first year and anticoagulation meds as well as antihypertensives and a statin my raised cardiolypin Ab was ignored

I continued with many Sx which could be attributed to my stroke but as the home testing of my BP was persistently raised My husband threatened to take me to A&E if I didn't get to see my GP which was when I saw the Dr who finally took notice

I find living with Hughes is challenging and at times totally debilitating .ihave to say though one of the most difficult things is explanation to others about how it makes you feel .i have a constant jagged eyesight with everything sort of rushing towards me and often feel that I am falling sideways, also extreme tiredness and difficulty speaking

Thanks to thi forum have found out lately that the leg pain which is so severe is probably due th Hughes and that the rushing In my head and the kaleidoscope vision could be due to raised ICP I have no confidence that this will be taken seriously by my Consultant ,however ,I will put it to him

Thanks Charlieab Hope is useful

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Hi Pappp,

The kaleidioscope vision could also be from HS/APS together with other neurological symptoms. I have had that several years before I started Warfarin finally.

What are you going to do about it now?

Have you tried Aspirin 75-100 mg/day? Have I also suggested that you read "Sticky Blood Explained" by Kay Thackray?

Kerstin in Stockholm

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Thanks Kerstin

I was writing my APS story out for Charlieab at his request for the meeting at the university today

I take Clopidegrel so I cannot take aspirin I will be challenging my specialist regarding my tx as my Sx persist despite this anti platelet med

I will also see my GP to have 6 monthly INR bloods taken

Where will I find the book? Is it available on line ?

Best wishes Pappp

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Hi Pappp,

I live in Sweden so I do not know where you will find it where you live. Kay Thackray writes about neorological symptoms that both you and I have.

I can not understand why you take your "6 monthly INR blood-test" as you are on Clopidogrel which is an antiplatelet drug like Aspirin. You take INR-tests when you take Warfarin. We all have an INR around 1.0 perhaps when we are not taking Warfarin.

Kerstin

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Hi

I meant to say that I would ask to go on warfarin then have the INR 6 monthly just gettinga bit confused

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Hi Pappp,

Me too. I do not understand.

Kerstin

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Have started to read the book As you say is a good resource

Pappp in UK

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What a great idea. I must be a bit unusual as my APS was spotted straight away with the first facial numbness sensation 1998.

Couple of clues for the medics was, 7 Years previous SLE with multiple symptoms had been diagnosed. slight facial numbness and a phlebitis attack. A neurologist and rheumatologist diagnosed APS in 1998 straight away. Advise was sort from Dr Graham Hughes I basically ignored all symptoms and got on with life and at times taking only aspirin. Period of around 10 years no worrying symptoms occurred.

19 years later lesions were found on the Myelin Sheath. Specialists at first could not decide MS or APS both Neurologists said due to probability it is APS..... !!!!!!

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Not sure how I can help but I. will be here watching and listening and hopefully contributing in some way.

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Thanks Linda. Hope things are going well for you atm.

Would it be ok to take this post (with your name removed) to the meeting, as an example of how conditions can be diagnosed quickly?

No worries if not ok.

Thanks again.

R

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Absolutely no problem at all. I have also written to Dr Lilic who I have just found on line and is actually researching APS in Newcastle UK. I have linked the site for you and all to see. It will be interesting if she knows how she made such a quick diagnosis all those years ago.

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Thats brilliant. If this goes ahead (which is far from certain), then it would be nice to be able to interview some doctors as well.

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Hello again its 3.34 am and I am wide awake. I have found one way to contribute to this wonderful idea. I decided to look for this wonderful Dr Lilic whom I saw only twice in the UK in Middlesbrough 1998. and diagnosed me with APS. Dr Desa Lilic is now researching APS her findings are very interesting.

britmycolsoc.org.uk/science...

Scientific Activities

• Dr. Lilic her research proposed and documented novel pathogenic mechanisms and gene defects in the primary immune deficiency (PID) syndrome of Chronic Mucocutaneous Candidiasis (CMC), which are now regularly cited by virtually all authors in this field. Her work is well known nationally and internationally and our most important findings are:

• Identifying an underlying STAT1 mutation in the largest cohort of CMC patients (N Engl J Med 2011)

• Identifying autoantibodies to Th-17 cytokines in patients with Autoimmune Polyendocrinopathy Syndrome (APS-1) and the AIRE gene mutation as the cause of their CMC (J Exp Med 2010)

• In both cases, her findings have been translated into diagnostic NHS tests (genetic diagnosis for CMC and anti-cytokines autoantibodies in patients with APS1)

• As both a scientist and medical doctor, she has set up specialised “Candidiasis” clinics at the Royal Victoria Infirmary, Newcastle (the only such clinic in the UK) where she looks after one of the largest cohorts of these rare patients in the world.

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This is all so interesting to me that, although I may or may not have APS (no stillbirths, strokes or antibodies to date - but many symptoms and related autoimmunity) I thought I must comment too.

I’m in the process of preparing a PhD funding application to do an artist led doctorate in philosophy at a university art college with a large medical school attached. The title keeps changing but this is the gist: “Visualising the invisible; a creative journey under the skin, searching for visible manifestations of invisible disease processes, in order to represent the causes and effects of autoimmunity through miniature art works.”

I too feel I’m crazy and out of my depth a lot of the time with this idea. Having assumed that the issues I’m having relate to Sjögren’s and Hypothyroid cognitive impairment/ brain fog - I was speaking to someone the other day who had been diagnosed with dyslexia while doing an MA in theological studies. Suddenly everything has become clearer to me - I’m certain that I’m severely dyslexic but am of the generation where this went unnoticed at school and university. Could be an added burden to undertaking a PhD but could also really help me to get diagnosed and supported with my intellectual endeavours at long last!

Anyway - one of my 3 questions is closely related to your research topic. Im not so much concerned with collating stories, but in making artwork that empowers those of us who have had such trouble being believed to turn things round for ourselves and for others. Anyway my non dyslexic (but Aspergers) son has just pointed out that the research question would have to show that many people with autoimmune diseases do indeed find it difficult to be taken seriously or for doctors to join up the dots. I don’t envisage having any problems with showing this but it would have to be properly researched and evidenced of course.

So perhaps, if you do get your thumbs up from your university, and if I am also successful in getting my funding (hugely competitive for medical humanities of course so this is far from likely!) - we could put our heads together sometime?

Meanwhile I’m wishing you a very happy Christmas Day!

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Hi Twitchytoes,

I wonder; have you done the 3 bloodtests for antibodies for APS? Have you had any antibodies for the Sjögrens. How was Sjögrens diagnosed? Also RA can be difficult to diagnose. Did you also have Hypothyreidosis?

Hope you have a Specialist of autoimmun illnesses who knows these illnesses who go hand in hand so you get the right treatment. These are tricky ilnesses and need a very good Specialist.

Best wishes from Kerstin in Stockholm

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Hi Twitchytoes,

I think I read that you could not stand Aspirin by some reason. All the same I think you should try something else like Aspirin. Also discuss the problem with support stockings. Do you have both systolic and diastolic high bloodpressure?

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I will see what my specialists say Kerstin because I’m on a maximum dose of immunesuppression presently and they are all meeting to discuss my case in the new year. I’m on Losartan for my BP which averages at approx 140/95 now. I think weight loss and more exercise would probably get it down a bit but my mobility is very compromised by balance issues caused by numbness in my feet and everywhere else.

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Thanks Kerstin. I was negative for APS antibodies when tested 2 and half years ago. But then I was also negative for everything at that stage - still on steroids. Last year my ANA was a clear positive at 1:320 with pattern pointing more to Scleroderma - which I don’t have.

They felt it was worthwhile giving me a lip biopsy which was 100% positive for Sjögren’s. So my first diagnosis of RA was revised to primary Sjögren’s on strength of my symptoms (Sicca with severe neuropathy everywhere).

I am now at a different hospital to the one where I was misdiagnosed with RA but also to the one where all my antibodies for APS were negative. My doctors are a neurologist., a rheumatologist and a vascular doctor who is one of the specialists listed here with an special interest in APS.

My full panel of autoantibodies is being run again to check at the request of the vascular doctor. So I think I’m in reliable hands and I do definitely have Sjögren’s as my main rheumatic disease. Thanks for your concern though. Twitchy

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Hi Twitchytoes,

Why do you get maximum dose of immunsuppression? Interested if that can effect the titres and positive antibodies? You know that many of us have negative antibodies but still have APS.

Kerstin

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Well that’s a big question Kerstin. I guess I get this whacking dose to try and slow the progression of my very systemic form of Sjögren’s down. And yes I personally think it can effect titres and positive antibodies - a point I made to the vascular doctor but he didn’t respond.

I do know about seronegative autoimmunity - including APS.

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Thanks Twitchy. Hope you have had a good day. I will reply in full in next few days. But in brief, your phd sounds fascinating. Art and philosophy were always two of my favourite subjects. Combining the two will be pretty interesting and your title and outline sound to me like your thesis will be highly original and very worthwhile. And yes, would love to gets heads together on this.

best wishes

R

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