Sticky Blood-Hughes Syndrome Support
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Trying to get a diagnosis

Hi,

I am 19 and in May of this year suffered what’s believed to be a silent stroke. I then collapsed with slurred speech and the inability to move my right side in June, (went to A+E who thought it was a TIA but discharged me because I was under 45) then collapsed again beginning and mid July, (on 11th July losing vision in left eye and passing out)

Saw a neurologist who diagnosed me with a hypothalamic strole caused by a clot.

Since 15 I’ve suffered with daily headache, dizziness, blurred vision, memory and concentration issues, muscle weakness, increase in lactic acid and prolonged muscle recovery, Raymond like symptoms in my hands, neuropathy in my ankle and unexplained joint pain.

A friend I met through a stroke charity suggested APS due to my symptoms and I’m seeing a haematologist on Monday. I have a prolonged PTT time and apparently several small indicators I have a clogging issue, but I went to have the APS tests done which came back as negative. We are not sure if they were done correctly as I know they have to be tested within about an hour, but has anyone else had issues getting a positive result?

My stroke and TIAs were all clots and have no other explaination.

St Thonas’s when I spoke to them were keen to see me after the haematologist has run more tests, but I just wondered if I’m the only one been in this situation.

Many thanks in advance

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Hi, no your not the only one in this position. Many on here have all the symptoms with seronegative results or go many years, like myself undiagnosed at all.

Have a look at what Prof Huges says about seronegative APS on GHIC/world/

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Are you still seeing a neurologist?

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Neurologist referred me to haematology and has said it isn't his problem. He doesn't believe there's anything wrong with me...

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To me that means the hematologist is not convinced the problem is caused by a blood clotting issue. That does not mean there is nothing wrong! There are other potential causes of stroke like heart valve problems. Have you spoken with your neurologist yet? The hematologist will write to the neurologist with his findings. Try to feel confident they will continue to pursue the cause of your tia and stroke. Is there a stroke prevention center near you? Ask your neurologist if he thinks it would be wise to send you to a stroke specialist. Please do not feel as if you not being taken seriously. With your symptoms and your age, you are of highest priority.

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Sorry I meant the neurologist believes there’s nothing wrong. I see haematology tomorrow (sorry I still struggle with writing and reading since my stroke)

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Was it not the neurologist who diagnosed the stroke? Then there was something wrong. Did you have a CT scan or MRI that the neurologist used to make the diagnosis? « Nothing wrong » can mean a lot of things. I can tell you are struggling. Trying to help you understand what is going on. Sounds like you are not feeling well cared for medically.

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I had a CT and two MRIs confirm a stroke and possibly six TIAs since May. The Neurologist said my bloods were normal and I had no obvious cause to my stroke. according to the neurologist 'some people just have strokes and there's nothing you can do about it' (sent the bloods to the haematologist who said the neurologist was categorically wrong, three of my results are abnormal and I definitely have a clotting disorder). the neurologist since has written a letter of apology to me for the way he treated me initially. it's through a friend and myself pushing we got a haematology appointment.

medically for the last five years, I have received some appalling treatment, including having a paediatric neurologist tell me I was making everything up to attention seek. This lead to me never complaining about my migraines and trying to learn to adapt without any help (except family support). It wasn't until I had my stroke that we started investigating haematological conditions due to my blood results. It has been confirmed I definitely have a clotting issue, they just don't know of what sort yet, that is hopefully what haematology is going to find out.

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Ive yet to find a really good neurologist for this disease. The only one i truly have any faith in was the one who initially found it immediately after my first stroke and he was younger but has since retired/ became disabled with his own neurological disease. Such a shame. I saw him walking by a year later and he didnt even look the same, my husband had to say to me “you know who that was?”

Its difficult to say the least.

Ive been more fortunate with hematologists for help

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It is such a mind field. For me people keep insisting I'm making it up or it's psychological..! No amount of psychological stress is going to amount to a stroke and my symptoms. Seeing a rheumatologist next week who hopefully is going to ASK my symptoms. I got told by haematology my symptoms don't fit, yet i pointed out to her she never asked what they were..

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Thats a shame just proves they are so rehearsed in what they do they dont even listen to themselves talk...scary.

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Very. It's so frustrating. There's something wrong with me plus I've had a stroke and yet they refuse to do anything. Hoping next week goes well! APS fits but if it isn't i need go find out what it is. I'm 19, I've already had a stroke.

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Hi again,

Hope everything will go your way in the future.

At least you have got a lot of very good answers to better understand your situation.

Kerstin in Stockholm

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Hi, I was seronegative for years as were my children, not the case now. Did they just do one test, or did they do all three? As often people do not pass all three tests, us lot as in my family seem to pass two out of the three. Please take a look at our charity website: ghic.world/ Under Hughes Syndrome, are the main blood tests. So do keep a list of your medical history in bullet points, also your symptoms, plus that of your wider family, members past and present. Any who had autoimmune disease including Thyroid, plus if female miscarriages also any strokes, dvt's or heart attacks at an early age.

This is the right forum for you and a lot have been in the same position, and we are also a mixture of ages. Over on the right hand side of the forum under pinned posts are our UK specialists and also we have global ones on our charity website. MaryF

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i had all three tests and was told they were negative. Haematology still want yo investigate and st Thomas seem keen. My mum has A history of autoimmune in her family as well

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The history taking and relatives should be part of the diagnosis, not just the blood tests. Also there is a seronegative section on the website. MaryF

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Good that you are going further with this. St Thomas is a good hospital I have learnt here.

I wonder if you have tried Baby-Aspirin? It is our first step to avoid TIAs etc but it is not an anticoagulation-drug as that must be decided by the Specialist you see.

You can always take 75-100 mg of Aspirin a day and that will be better than nothing. I felt better with it after my first TIA but had to take Warfarin later on, on Doctors suggestion.

Best wishes and hope you stay with us here as you will learn a lot from our knowledable and kind members and our Administrators of course.

Kerstin in Stockholm

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I think that is not advisable. There are many causes of stroke in a young person that are not caused by a blood problem. The work-up is very involved and multi-disciplined. Since they do not yet know the source of the stroke, it would be best not to do anything without checking with the neurologist.

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Very good that both St Thomas and Hematologist keen to see her again. They are knowledable of APS.

We think she has got symptoms from our illness. Relatives with APS also. The antibodies can show up later on as she is also very young.

The Neurologists we have found here do not always understand that we have too thick blood that has to be thinned and that the thick blood is also our main problem.

No harm to try 75-100 mg of BabyAspirin for a shorter time, which probably already some Doctor has suggested.

Kerstin

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That may be true but stroke in a young person is very serious and it should be a doctor to make decisions at this time. There is no question that in an negative antibody patient, they should see an APS specialist. But many other causes such as vascular and cardiac will want to be ruled out. You may be correct that low dose aspirin would probably do no harm, but it is best to ask a doctor. The neurologist sent her to the hematologist so he must have wanted further evaluation for clotting issues.

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Do you have APS yourself?

We have to fight to get a diagnose and to find the right Doctor who understands that everything has to do with too thick blood!!

Well done to have found a Hematologist and St Thomas and this page within half a years time!!

Good Luck Skatingonthinice!

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No, I have UCTD and am anti-cardiolipin positive. My rheumatologist sent my blood to a researcher on the syndrome before there was even a blood test available. I understand that APS is not as well understood as it should be. However, we cannot assume all coagulation problems are the same and that similar symptoms are APS. When I said to my doctor that I had learned from a recent experience that medical diagnosis is not a check list, his response was, « That is correct. »

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Hi Lure2.

I've had issues for five years now and never gotten anywhwre, always told 'I was a hormonal teenage girl who was attention seeking and making things up.'

When I collapsed in June, I was taken to A+E in Oxford and told I had suffered a TIA, but because I was under 45 they couldn't do anything so discharged me with no other help. I was told to try see a neurologist. I then collapsed the next day again, 4th July and 11th July (on the 11th passing out and losing all vision in my left eye). I was unable to move my arm or speak.

I was taken to York A+E on the 11th July who said there appeared to be nothing wrong with me and I was making it up, despite the fact I could barely stand and walk.

Saw a neurologist who ran an MRI and echo etc who diagnosed me with a stroke to my hypothalamus. he believed the stroke to have occurred June and then me suffer TIAs since.

He ran some bloods and then decided there was nothing he could do and discharged me. his opinion was 'a stroke is just one of those things that happens sometimes'. I was given no help whatsoever.

I got in touch with a stroke charity specifically for young people who suggested APS due to my previous symptoms. A friend of my dads is a retired haematologist and so he looked through my blood results and said there were several abnormalities showing a clotting issue. he got me a fast track through to haematology who I see tomorrow.

I think more than anything it's been luck of knowing people since my stroke that I am here. It's taken five years to get here, but I am hoping to god they actually diagnose me with something. my symptoms have caused me so many issues over the years (symptoms started half way through GCSE exams so I had to delay all my exams because I couldn't remember anything). my stroke was during my A levels and so put me getting into university into jeopardy.

I have done so much research since my stroke to find out as much as I can about ANYTHING, but my dad spoke to ST Thomas's who agree APS sounds very likely. I found this group by searching for APS and other clotting issues that have a prolonged PTT time.

I think finally We are getting somewhere after a five year battle. I want my life back. people who don't suffer the symptoms just do not understand the affect it has.

Thank you for your message x

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Thank you for telling us this!

So very good that your dad´s friend, the Hematologist, looked at your case and that your dad spoke to St Thomas. Good luck with your studies later on and please stay with us here and let us hear how it goes for you. I am quite sure you will get your life back.

Kerstin in Stockholm

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Hi, I've been put on 75mg asprin which had helped with my muscle soreness. Not helped with any other issues but Apparently that's an indicator of APS too. It's wonderful to find this group. I more than anything want a diagnosis now x

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Ugh so sorry youre having to fight this battle, good wishes are sent

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Hi skating and welcome -where are yo from - read copy and take info Mary has sent from site GHIC and make sure the sero negative with all those symptoms , there are many in the same boat sort to speak and letting us know where you are from you may have some help closer that you think with you - You have to be your own best and persistent advocate if Doc's won't listen. i have had to be real pushy.being female especially with all you have going - I didn't read all above posts and may be repeating but you have some of the best people in the APS world here for you , keep us posted and go get them Tiger. best to you and sometimes you may have to walk away from a doc. but don't let that stop you. C & J here in N.H.

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Hi I’m from Yorkshire in the UK. Seeing a haematologist tomorrow in Middlesbrough. I’ve been fighting this since 2015 and now people seem to be taking me a little more seriously, although there is definitely still a “typical whiny teenage girl” vibe amongst people. I saw a stroke specialist who said I was fine, I just needed to learn not everyone can have perfect health and to just learn to adapt. I told him if I smashed his head into a pavement, refused him medical treatment and told him to just adapt, would he accept it? (Needless he wasn’t very pleased!) I’ll continue to fight the battle, as I’ve said above, St Thomas’s seem interested at seeing me once I’ve had more tests done so I’m so hoping they are able to treat me

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I too was dismissed from a hospital while still in the midst of a stroke because "she is too young with low cholestrrol, low BP and not overweight, so therefore this patient is just making up symptoms to garner attention." Grrrrrr.

You are not alone. Welcome to our site and we certainly hope you get an official diagnosis of... whatever... and an effective treatment soon.

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Sorry to hear you had the same issues. I got told my infarction was small and I’d have to learn to live with all the difficulties, but to be pleased I was young enough to adapt..! I seem to be proving them wrong by returning to my normal self with a lot of work. It’s just wrong

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Yes it is wrong and it is very hard work getting back: Ive been there, done that. I have APS. I am going to have perispinal injection of embrel/ etanercept in January. Ive gotten as far as i can with physical therapy and pushing myself... i am nervous but i need to know ive done every thing i possibly can to get back to as close to my “previous self” as possible. You are much younger then I, I understand your frustration. I wish you all the best, Cindy

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Thank you very much, best of luck to you too x

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Thanks! Im not gonna lie, im scared

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It is scary. Just hang in there and keep positive. This seems a good group as well so I am sure you will find support if you need it x

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Is your neurologist a pediatric neurologist? I read in a later post that you are going to an academic medical center where they will have all the disciplines and technology to help you. If you are starting out with the rheumatology/APS service, they will get all consultations necessary. I am wondering if they will refer you to a child neurologist because they have the most knowledge of stroke in your age group. Know that everyone involved will be working together to determine the cause. Wishing you the very best.

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I was under a paediatric neurologist when my symptoms started but since my stroke m 19 so was under a neurologist. He’s been pretty useless actually. We went and sourced a haematologist at the suggestion of a friend who is a retired haematoliigudt. We’ve had to fight pretty much the whole way

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So your neurologist never sent you to the hematologist or ordered tests? You had to do all of this yourself?

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Yes. the neurologist literally discharged me and listed my stroke cause as unknown. It is unfortunately very common for them to do that when it's young people who have had the stroke.

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I can imagine this is all very frightening and confusing to you. I thought I read that your neurologist sent you to a hematologist for further testing. It is standard for a neurologist to test for certain conditions so it may be safe to assume he did this initially. When his initial testing didn’t give him the information he needed, he referred you to a hematologist for more extensive testing. That is my take from looking at your posts. The important thing is for you to be confident you are getting the best care. Good thing you are going to an academic medical center where they can best diagnose and treat you. Check back after the hematology consult.

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KayHimm you seem very knowledgable about medical protocol and a disease that you admit you don't have. Ive also noticed your answers on Lupus Uk. Are you a medic?

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No, but I am old — so old that I was tested for APS antibodies before there were even standardized lab tests. I do have one of the antibodies and non-thrombotic symptoms and have kept up with the research. I worked for many years in a hospital so I know how doctors think. I have learned a lot through my own doctors too. I really felt bad for you and could tell you were not feeling cared for. I knew a stroke in anybody, particularly, a young person who would not have the risk factors of older person, would be hugely important. I know how hard complicated these diagnoses can be. You need good doctors you can trust.

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If you are positive to one of the antibodies and that was retested and still positive, then you have APS and should not be defined as UCTD which is an umbrella term to describe people who have things like "Lupus like" symptoms but don't test positive for any of the standard rheumatological tests. The fact that you have non-thrombotic symptoms is neither here or there, as its possible that you may well develop them later. I bet if you were to speak to someone like Prof Hughes he would find symptoms that you may well not have associated with it. SNAPS is used for those that do have symptoms but don't have the antibodies.....when tested at any rate.....but if they were to be continually tested they often do eventually show positive.

APS is a complicated condition, which is still being evaluated, with new links to it being found all the time. As is normal with what is termed as a "new" disease, there is not total agreement on many things. I hear mention of people being called carriers, that they no longer have it once their antibodies go negative or that if someone is triple positive they are more likely to be at higher risk. At the end of the day everyone is individual and APS seems to affect everyone differently. I know people who constantly clot and yet antibodies remain stubbornly negative or low.

All I will say is be vigilant and don't rule anything out or in and never assume anything.

I still think your a medic in disguise!!! Lol 😎

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Thank you so much for your guidance and concern. I may not have described my situation well. When I was young and evaluated for autoimmune disease, rheumatologists often ran the VDRL test because that was often falsely positive, as was the case with me. The ANA test was not as good back then and there was no anti-cardiolipin test so my rheumatologist sent my blood to a researcher. Hard to imagine, right? Later, the ANA was positive and also anti-cardiolipin. But I actually do fit the UCTD picture and have had a milder course, as expected. I see a neurologist at the autoimmune brain center and he really gets the weird symptoms and watches the MRI closely. In the U.S. they seem to classify you as APS only if you have had a clot. Otherwise, it is called Antiphospholipid positive. Am I correct that in the U.K. the classification is different? Again, thank you for your response. So much is going on in the APS area — it is great.

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The classification is the same everywhere, however its really for research and is not helpful in a clinical setting. For instance the criteria takes no account of the many manifestations of the disease and there are many that want these included. In then clinic if you haven someone showing all the classic signs of TIA etc but they have not actually had a clot per se, in the USA they get sent away by most Doctors saying they cant treat them. This is because of insurance! They are literally waiting for people to have a stroke before they will treat them - how ludicrous is that!??

In the UK because it is not so litigious, Doctors are far more likely to ignore the criteria and treat to see what happens. A 2-3 week course of LMWH can, in most circumstances tell them a lot.

In the USA it is still called APS or Antiphospholipid Syndrome (Hughes Syndrome), regardless if you are positive or not as the message is now getting out that you can clot when aPL are negative. If it is called anything other than that then it usually by a Dr who is not that familiar with the disease. For instance some patients get told they have Lupus Anticoagulant or APLA, or antiphospholipid antibody syndrome or any and everything in-between including Sticky Blood!!

If you have positive ANA as well as anticardiolipin (aCL) then its possible you have sero-negative Lupus. Are you still being tested? With these tests:

ghic.world/lupus/#blood-tests

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Interesting. Yes, my rheumatologist follows the anti-cardiolipin antibodies and the lupus panel. I do think certain symptoms of APS have not been well-understood. My anti-cardiolipin was always secondary, as I had fever, Sjogren’s, and photosensitivity. I do agree the full spectrum of APS has not been recognized. I live in a large city and have been treated at an academic center, so I have been lucky to have doctors who are more knowledgeable. I know my rheumatologist has gone to hear Graham Hughes speak. One thing I don’t hear as much about on this forum is controlling other risk factors — diabetes, coronary artery disease and blood pressure. I am not as good about it as I should be but these measures are important. Looking at these great desserts in a coffee bar right now, in fact!

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When we have what we do its a little of what you fancy in my book anyway! get your Rheumy to check your anti-B2GP1 as well as your LA!

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Haha. True. And I will mention that. Thanks!

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I just wanted to chime in and say that even my haematologist (in Canada) who I find to be a great doctor says you don’t have the syndrome until you have a clot . And every other specialist - internist, neurologist, etc. Has said the same thing

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It's ridiculous. I've had the clot but if I do have APS it seems i am serro negative. Then again the way the blood had to be tested is so specialist wer don't know if it's worth the paper it's written on. I am going to see an APS specialist on Tuesday in London so hopefully they will have more answers. Even if it isn't APS, it rules it out. I have a family history, the right age, symptoms and clot. I just want someone to find out what's wrong!

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You are heading in the right direction ! I remember how helpless I felt when I first got sick . It’s overwhelming but this forum is a god sent . It makes you realize your not alone !

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It really does. I'm hoping it is APS because then the give year hunt is over! It was horrible when I first started having issues. I had to delay my exams, still fling certain things and yet couldn't say why was wrong!

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Canada unfortunately does not have a lot of Doctors who are specialists in APS. We have more pleas for help from people living there because of unsupportive and unhelpful Doctors than anywhere else. Internists and Neurologists don't have a clue about APS, so I would never recommend seeing one for advice. If you don't have the Syndrome until you have a clot then there is an awful lot of people not getting help in your country who should be and people getting disabilities who don't need to. This is where the diagnostic criteria, designed for research, is so harmful.

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Hang in there and don't give up, or give in when you are brushed aside.

My first recognised clotting event was in 2005, altho I can look back and see that I've clotted and had symptoms of APS most of my life.

I had my first PEs in 2005 and first recognised and diagnosed strokes age 40 but only very recently got my APS diagnosis. I had to fight so hard to get it but thankfully I found this Sticky Blood support group and was supported and encouraged to persevere.

I have a history of multiple PEs, multiple DVTs, and multiple TIAs and CVEs and also every single symptom of APS but was told that I don't have it because my blood results were negative.

It turns out that in actual fact I had three APS blood test results that were positive but because the antibodies were in the lower range, I was told I don't have APS.

Had my APS been diagnosed back in 2005, I have no doubt that I would not be as disabled and unwell as APS has now left me, which is why you should persevere and find out the cause of your strokes.

There are many causes of strokes and that's why you should be thoroughly investigated, especially as you're so young and quite frankly I'm shocked that the neurologist you saw isn't taking this more seriously.

All reasons for strokes should be investigated and that should include APS, even in the presence of negative blood test results.

Hang in there, Claire 😵

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And you had one of the best docs in this field..ugh

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I am so sorry you ended up in this situation. It isn't fair for people to give up looking for answers. you have the right to know what has caused your stroke, even if it is an inconvenience as so many doc tors seem to perceive it as.

I think I have been very lucky as I have said in other comments. I have a very long family history of autoimmune conditions including motor neurone, thyroid, strokes and heart attacks. my symptoms apart from a rash fit completely, and the way my stroke occurred apparently fits.

I was very lucky I am so fit and healthy that my stroke cleared up and broke down wuicker than usual. (I am a Team GB figure skater so I train 8hrs a day 5 days a week). because my heart is so strong, it was able to break the clot quicker than usual, meaning my damage was less severe than it would otherwise have been.

with the symptoms I have, it makes my skating so much harder. i haven't been able to compete for three years due to the migraine, muscle weakness and blurred vision as well as balance and dizziness affecting my ability to train.

I am so sorry they didn't diagnose you sooner. it is horrendous how APS is such a widely ignored condition. Even if I don't have APS and it is another clotting issue, I completely agree APS needs more support.

Best wishes x

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Now I understand your choice of name. Wow you must be so talented to be on Team GB!

This is what upsets me the most, when we are dismissed and ignored by doctors and specialists. They seem to be oblivious to the fact that we have lives and family and careers etc and as such we want to be diagnosed, so we can get the correct treatment and then hopefully get some of our lives back.

You shouldn't have to abandon a career you love because doctors can't be bothered to investigate your symptoms properly, it's just not good enough! 😡

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Hi , yep had all those symptoms many times . I tested positive to lupus anticoagulant, I was treated for that and still many symptoms, they have now discovered I have hemiplegic migraine as well which also has very similar symptoms. They are now wondering if I had lots of TIA’s or Hemiplegic episodes 🙄. My memory REALLY bad past couple of days ( daughter said mum are you sure you haven’t got dementia starting )!!! No I said it’s just worse at a certain time if the month .right hand very weak tonight but I know it will come back soon xx

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