Sticky Blood-Hughes Syndrome Support
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Does it take 2 years to be diagnosed correctly, about anything medical? Do you have atypical symptoms?

Hello. I am wondering if because I have Hughes Syndrome, that illnesses I have been through seem to present themselves in atypical ways? For instance, I had severe endometriosis that started on my bowel. 2 years for correct diagnosis. I had 3 major strokes but they did not present with the typical -warning signs. And yes they were full strokes, but I experienced only mild side effects. (Balance issues, some broccia 's aphasia, and urinary incontinence, etc.) I only knew I had them when the ophthalmologist I was seeing ordered an MRI because of visual problems I was having. (They were from the dozens of TIA's I was experiencing.) I had gut pain for 2 years before the correct diagnosis of intestinal ischemia was diagnosed. When I started falling often it took a chiropractor to diagnose crushing of my vertebrae from breaking my tail bone twice. I had a heart attack due to extreme vomiting because I had e-coli that was shutting down my kidneys. I didn't know I'd had a heart attack until I was back in ER because of chest and lower jaw pain - that turned out to be an angina attack. But they discovered that I had experienced heart attack 48 hours previously while in the hospital earlier. I am currently having a problem of getting upright if I have fallen and there is nothing for me to lean on once I am on my knees. Has anyone else gone through anything like this, or is my body just extremely weird? Thank you for reading this and any responses.

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Hi,

I think you have typical symptoms of your illness APS. I have had those and several of us here know about it.

I answered some minutes ago on another post from you today and I wonder if you have now managed to get in touch with a specialist of autoimmun illnesses who knows your illness. That is exstremely important to have such a Doctor! Also to have good control of your anticoagulation. I wonder if you are positive to Lupus Anticoagulant as one of the three antibodies we test for before we get a diagnose.

Best wishes from Kerstin in Stockholm

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Thanks for your reply. My anti coagulation is good. I get tested monthly or even every three days if it is needed. Plus I self test if I can't get to a lab. I did test positive for Lupus Antibodies. I don't have a specialist yet, but will very soon. So for now I am dependent on my GP. And he had never heard of Hughes, nor has he learned anything about it - except from me.

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Sometimes once we have diagnoses everything else is overlooked and presumed (wrongly?) All relates to APS.

Sometimes our anticoagulation is not high enough to stop all these symptoms.

The important thing is to have a Hughes/APS specialist that can look after the whole body and understand we can all be different.

Have you got a specialist? Is your INR set and reaching high enough? With your strokes your INR should be between 3-4.

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Thanks HollyHeski. With the strokes etc. my Doctor still insists that my INR be 2.5. The Hughes specialist should be happening soon. Keep your fingers crossed for me.

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Tbf it's hard to diagnose anything when none of the symptoms add up. I've had multiple strokes but I've only been aware of 3, apparently my mri's show a further 30 strokes. How would anyone know I'd had them if they weren't specifically looking. part from that I had extremely heavy bleeding that was beyond control, a heavy period that lasted for 5 years with no let up. Having strokes saved my life because there was know way I could carry on like that. I was so weak I could barely stand, I was confined to the house due to bleeding so heavily. So yeah it took them ages to come up with a diagnosis, over a year after my second stroke but hey they got there in the end and I'm so grateful because my life apart from joint issues is great now, I see a future and that's a good thing. Even if some doctors still don't get it, these days I know enough to put them straight.

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Thank you for responding Tucson. I don't know what Tbf is. Could you please tell me? I am sorry for what you have been through and are still experiencing. And I love your attitude, about being grateful about the path your life is heading in! One of my major gripes about the getting to my feet issues is that it interferes with my passion. Snorkeling! On a recent vacation in Hawaii I fell before I could get onto the beach. It took it 2 men to pull me up to a standing position. As well as being humiliating, it takes away from my pleasure. And I can't picture a walker and my snorkeling gear in the same scenario. LOL

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Tbf = To be fair

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Correct.

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Thanks for letting me know what Tbf means.

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HI, a lot of us have a mix of these symptoms, it is important that you get the right consultant, we have plenty of members on here in the USA, if you say where you are located they have have some ideas. Also do please look at our charity website: ghic.world/

The link above carries a list of specialists across the world. It is important that alongside investigating your Hughes Syndrome/APS, that also your levels of B12, D and your Iron is checked plus a full and detailed Thyroid panel.

MaryF

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Hi MaryF. Thanks for your continuing support. I live in Sarnia, Ontario, Canada. I will be referred to a specialist In London, Ontario, Canada., very shortly. I do have recent results for my levels of B12, and Iron ,plus a full and detailed Thyroid panel. Everything was good. I can see my own blood work test results, so I know when results are in the proper range. Then I see my physician and we talk about them. I have recently started taking 2000 mg. of vitamin D daily on my dr's advice. I had this recent screen done because my hair was falling out by the handful. (Still don't have an answer for that one, but I am not worried about it. It will either stop or I'll be bald. )

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My stomach issues never progressed to the extent you describe, but all of my issues resolved when I went on a gluten free diet. Gluten sensitivity/Celiac is so often linked to APS that many APS specialists strongly suggest that their patients go on a gluten free diet.

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Hi GinaD. Thanks for responding to my question. I was tested for gluten intolerance/celiac disease, and everything was fine. At the time I had not yet been diagnosed with Hughes syndrome. The Hughes had caused a blockage with the upper superior mesenteric artery. So years later, the placement of a very small stent was all it took to unblock it, and allow me to eat again. I realized later that the blockage had been progressing for over 25 years! I was finally able to eat broccoli again, and I love broccoli. My youngest sister decided her digestive problems were due to gluten and went gluten free many years ago. I did suggest she get tested for Hughes, because of a genetic history. She didn't get tested. Good luck to you.

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Hello, snorkel!

( fellow PADI diver here- love the caves and technical diving- especially in the carribian Cenotes- alas seizures from APS now plus failing vision from optic nerve strokes ( mini) makes that impossible. )

Gina is right. You do not have to be fully diagnosed with celiacs to need to come off or greatly reduce glutens.

You might have a look st NOn celiac gluten intolerance. ( NCGI.)

Professor Hughes ( my consulting Rheum as well as many others here on forum) even wrote about this in July (?) 2018 blog with regards to Sjogrins. Many auto immune diseases fare much better without the inflammatory tendencies that wheats ( and sugars) bring.

I greatly reduce, but my gastro would like me to do one better and eliminate.

I do fully admit to have an inner 2 year old child that rebels that I can’t quite get under control...

However- I have been through the wringer with gastro dysfunction/ clotting. Paralytic lieu’s and segmental spasms . Multiple abdominal surgeries and organ failures/ illnesses.

I also have DVT’s .

I take Pamine forte to help brain and bowels “ communicate” . ( dysautonomia.)

2.5 mg in the morning and 5.0 mg at bedtime.

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Thanks for the information KellyInTexas. I will have to look into the Pamine when it comes to dump syndrome. Because I am a diabetic, I am always conscious of my sugar consumption. My carbohydrate needs are usually filled by raw fruits, and rice. I don't ingest a lot of wheat. Because I am a diabetic, I am a constant label reader - always looking for hidden sugars and wheat. I don't have DVT but have been diagnosed with IBS. But I have found a source of fiber that really helps with that.

We live in a "gray" city. Meaning 60% of the population here is over 50 years old. So there are a lot of gluten free products available, and I do take advantage of that.

Thanks for your help.

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Preach it! Keep at it. Dr Hughes summer blog- ( July?) talked about this.

NCGI

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Hi snorkle272. Sorry to hear how much you've been through. In reference to being on the floor and can't get up unless you have something to grab onto is something I have. Mine is caused by diagnosised insufficient adrenal gland function. I can't run anymore either, no matter how hard I focus. I can do a very slow jog but can't seem to pick up speed at all. It's weird. Anyway, the I'm on the floor , I can't get up situation, along with the I can't run happened gradually and at the same time. Mine shut down because of prednisone......Are you on prednisone? If you are, get your adrenals checked. Just a thought.

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Hi Hihannula,

You told us you saw the Cardiologist on July 10 about your heart-issues. How did it go?

Best wishes from Kerstin in Stockholm

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Thanks for your reply hihannula. My adrenal glands and secretion levels have been tested and are good. TAnd no I am not on prednisone. I am sorry you are going through this too.

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Once you have been diagnosed with one chronic systemic condition with a wide range of symptoms it becomes all too easy to assign any new symptoms to that and look no further. Sometimes doctors will assume your APS isn't treated enough and increase treatment for that, even when it isn't the problem.

I don't think this is a bad-doctor problem, rather it is a fundamental problem with modern differential-diagnosis in the presence of other chronic conditions. A doctor listens to the history and draws up a list of possible causes (differentials) and then eliminates the things it _can't_ be by questions or tests (note, most of this happens in a doctors head while they are talking to you), when you only have one thing left on the list then that's what it is. Well, some of the time, if you're lucky :-). Problem is that if your symptoms _could_ be APS, then APS will _never_ be eliminated from the differentials because actually you _do_ have APS. [and repeat for any other not-APS conditions to have].

I always hesitate to recommend subverting the diagnostic process or trying to short-circuit it (one reason doctors make the worst patients, and one reason I don't take my wife to consultations), but, what you can do to steer the doctor is:

- know the symptoms of what you know you have

- watch out for things that don't fit or are atypical (and may therefore indicate you have something new)

- focus on those things in consultations, even if they aren't what is causing you most problems

- doctor will then be more likely to do further investigations into other things you might have

Of course the risk is that it might all actually be APS and you need more APS treatment...

Pays your money takes your choice.

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Thank you Ray46. I do go to my gp with recipe card in hand, with symptoms, unusual problems etc. My problem is that I still don't have a Hughes specialist. But that should be remedied as soon as I see my family doctor again. Thanks again for replying.

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I read an email fromOcean Robbins today pointing to potassium deficiencies related to autoimmunity. Another gut dysfunction/ biome connection? Im adding daily avocado or banana just in case this is me.

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I was told that increased potassium interferes with the absorption of the blood thinner Warfarin.

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Myy history of dizzy spells hiking on hot summer days plus muscle cramps plus blood work does point in my case to potassium/magnesium deficiency. And I am of the school that warfarin levels are dependent on nutritional needs. Not vice versa. But it is true that us warfarin patients should be aware of likely INR impacts.

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