my story

hi, im Stephanie.

if you have been diagnosed with a potentially life-threatening condition than you will understand what i am trying to say.

last year, june. i went into hospital because i had a cyst in my cleavage, and my right arm was purple and swollen, funny enough all the veins in my chest were showing. so the hospital looks at my cyst and decide to operate, the surgeon comes in and decides we need to do an ultra sound on my arm because he didn't think the two were connected. they did the ultra sound and they found a blood clot. i didn't really understand what a blood clot was. i didn't know it was life-threatening. i thought i was faking it somehow, it wasn't really happening.

i was having a bit of trouble breathing, i told the nurses, and they told their manager the head nurse, he wanted to look in my lung for what they said was a PE (pulmonary embolism) and the nurses wern't going to go through with it, it costs too much for the government, why look in my lung with radiation when there might not even be a clot, right? after a couple of days he had ordered me the scan, oddly enough it was there, a PE sitting in my lung, but did i hear them right when they said that it looks like a in-active clot, this means it had been there for quite some time. i had come to the conclusion that i may have had more clots than this.

the nurses and doctors couldn't understand why, they had meetings about me, brung in medical students study me because its rare for a 16 year old girl to be getting blood clots. after numerous tests and me being what felt like a pin cushion they did a test that had shown up positive, a test that ment my body wasn't producing enough coagulant, and i was growing cells that were attacking my immune system. this was antiphospholipid syndrome, from what they could tell this was not genetic, but did mean that i would have to stay in hospital for a while. as days pass i sit in the hospital and they are testing me for everything in the books, they continue to diagnose me with more things, syjrogrens syndrome, fibromylagia, and hyper-mobility syndrome. as it stands fibromylagia and hyper-mobility syndrome are very rare to have together. whilst i was in hospital they put me on warfarin, a medication that thins your blood, the funny thing about this was that my blood was actually thinner than normal and i clotted witin 2 seconds. after a month i got out of hospital, feeling fantastic. nothing can go wrong with me, im invincible, right? NO. school marks fell down, my life just crumbled really, i had and still have no energy to do much, school is getting to th point where i fall asleep on the bus on the way too anf=d from school, i fall aleep in class, or i blank out and cant hear or think of a word the teaher is saying, i get in so much pain, its so hard to move.

i am under a rhuemotoligist because they deal with auto-immune conditions like mine, she tells me that i will be on warfarin for 5 years minimum and hints at that i will be on it for life. i won't be able to carry children because it will probably kill the baby and i, high risk anyways. my doctor told me that it is hard to know what to do with me because i am such a rare case. but i am thankful for everything that i have because if i didn't have these conditions than i wouldn't be me. i am so grateful i have such a supportive family they have been incredible. and my boyfriend. i love you all.

10 Replies

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  • Hi there and welcome, I am sorry you have had such a difficult time, there are other people your age with this condition, including my own daughter. The diagnosis is half way there but needs some fine tuning if possible. Please try and email this to the secretary of your Rheumatolgoist marked for them, this is a very useful website to look at, both for yourself and them.

    hughes-syndrome.org/

    Many of us on here have successfully had children, it needs careful monitoring and the right drugs. Also your fatigue may be able to be tackled with Plaquenil, which over time reduces fatigue, my daughter is doing well on this one! Also there are alternatives to warfarin, and sometimes a mix of drugs required.

    Your Rheumatologist may need to be aware also that this disease Hughes Syndrome, (APS) often comes as a trio, Hughes, Thyroid and Sjogrens, the Thryoid often gets overlooked and is written off as Fibro. With the use of this site, for yourself I am sure we can help you a little. Let us know where you are located so I can see if I can find more detailed information in your area. Kind Regards, and you will meet lots of nice people on here who will want to help you.

    Mary F

  • Take care of yourself and at least you have found us - please dont write yourself off regarding children,you have enough to deal with - there is many of us that have succesfully had a family - not straightforward but it happens, and it seems that they just need to find you the right consultant care xx

  • Hi Stephanie,

    What rotten luck for someone as young as yourself to have Hughes and whatever else they conclude.

    Apart from wishing you well I just wanted to say that warfarin isn't as bad as it seems when you first go on it. I remember being horrified, but that as forty years ago and I am still around and warfarin is just part of my daily routine and no big deal after all this time. I hope you will find it so too.

    Best wishes.

  • Hi Stephanie

    Sorry to hear you have so much going wrong. I have to wonder, if you have all these autoimmune problems, have they checked your Endocrine system (thyroid, petutory, adrenals) to make sure they haven't been damaged in any way. It could explain the major tireness etc.

  • Im really very sorry that you have been diagnosed with Hughes and Sjogrens Syndrome at such a young age but in some ways at least you do have a diagnosis now and can have proper treatment which will hopefully allow you to have a much better standard of health. Many people suffer many years not knowing what is causing their problems before they eventually get a diagnosis.

    I really dont know why your doctor has told you that Fibromyalgia and hyper-mobility Syndrome is very rare together, in fact it is extremely common. I have attached a link here of a study that was done which shows just how common it is. As has been suggested above however it would be advisable to also have your thyroid checked too.

    I do hope your health continues to improve with good medication control and perhaps you can use the HSF website to gather information to educate and fine-tune your doctors knowledge of APS. Good Luck and please let us know how you are doing. xx

    ncbi.nlm.nih.gov/pubmed/162...

  • You poor dear! The only good thing about being diagnosed young is the knowledge so you know sooner what you have and how to treat it, as opposed to the suffering and not knowing. You say you thinned quickly...have them check for vonWillebrands as well. I have both and also i have two children. True, dont give up on the idea of having children and stick with this site :) everyone is here for you... good luck Teresa

  • I wish you all the best. You are obviously a very special person. I am so glad you have found this site . Keep searching , there are so many people out there to help . I am new to aps and just finding out stuff myself. My love goes out to you. Just take one day at a time it will settle down inthe end xxxxxxxx

  • Hello Stephanie. What a strong person you are! I would like to recommend that not only should you see a rheumatologist, but you should also find a good hematologist (doctor who specializes in blood disorders) in your area. If it is easier and you are on insurance, call your insurance carrier, and see if they can recommend someone - or have your primary care physician recommend someone. I see both a rheumatologist and hematologist and find it very helpful. I am also fortunate that my rheumatologist studied with Dr. Hughes in England and now lives in my area. She also does research on APS, writes papers, and gives talks to other doctors. I have been told by my hematologist that this condition is being talked about a lot amongst the medical community and that young doctors are being taught about the condition and the symptoms it can bring on - and that the should be looking for it in young people, like yourself. I wish you luck, and keep talking to people on this website. They are a wealth of support.

  • Wishing you all the very best and so glad you found this group

  • Hi just read all about you, stay positive and strong, I have APS and have two children I found out I have APS. last year.. Your young enjoy life and when you know its time to have a baby the doctors will help you.

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