Klippel-Trenaunay Syndrome

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    CLOVES Syndrome: Celebrating Rare Disease Day

    I was an infant when my mom began to worry about the two words we would come to dread the most: pulmonary embolism. As she researched my diagnosis, Klippel-Trenaunay syndrome (KTS), she noticed those two words often appeared in the literature. “Will we need to watch for blood clots?” my mom asked my doctors in Boston and Dallas. These specialists, some of whom were known for treating KTS and would later develop CLOVES syndrome, said no. At the time, they thought a pulmonary embolism was only a dreaded complication for those with KTS in their legs. I was 11 when I proved the specialists wrong. After a few days in the hospital for uncontrollable hand pain, I began wheezing. The doctors worked through a long list of potential causes, checking for complications like asthma and pneumonia. But as my 02 sats continued to drop, one brave doctor finally suggested the cause that everyone else dismissed. “What if it’s a pulmonary embolism?” he asked. At the time, the suggestion seemed ridiculous. Why would I, an 11-year-old with KTS in my upper body, have a pulmonary embolism? The suggestion seemed so unlikely that my insurance company initially denied checking for a PE. But after another week of decreasing 02 sats and pressure in my chest, the brave doctor spoke up again. When my insurance company finally approved the scan, we learned that the unlikely complication was no longer just two dreaded words. It was now part of my medical history. I was 17 when I had yet another pulmonary embolism. I’ll never forget that nightmarish day, a day filled with dread and distress. A cacophony of wheezing accompanied me as I stepped through the ER doors. “My daughter can’t breathe and may have a pulmonary embolism,” my mom explained to the women sitting at the front desk. “She’s been off of her blood thinner for a couple of weeks.” I’ll never forget what happened next. I’m sure you’re hoping that the women sprung into action, hooking me up to a blood pressure cuff or checking my 02 sats. But that isn’t what happened. Instead, one of the women scoffed in disbelief. At the time, a pulmonary embolism seemed laughable to the woman. “Why would she be on blood thinner?” the woman begrudgingly asked, as if she had already dismissed this “unlikely” complication. My mom quickly and irritably replied, “Because she has a history of a pulmonary embolism!” Just a few hours later, the “unlikely” cause was confirmed. Those two dreaded words were once again inscribed into my medical history. I’m 25 now, and my medical history continues to tell the story of a rare disease patient enduring the unforeseen and unlikely. This story is ever-evolving, yet it also contains repeated themes, themes like those two dreaded words. But it isn’t those two words that really stand out to me today. No, it’s the three little words I used again and again as I shared my story with you: at the time. On Rare Disease Day, it’s those three little words I’m calling our attention to. Those three little words — at the time — allude to progress. They prompt us to recognize that something has shifted, something is no longer as it once was. Those three little words not only set the scene for stories of where we’ve been, but they also call us to celebrate how far we’ve come since. They lead us to remember what it took to get to where we are now. For myself and many other rare disease patients, we’ve watched doctors learn to manage our symptoms through trial and error. We’ve watched researchers make progress in identifying the genetic mutations that can cause these rare diseases. We’ve watched specialists creatively think outside of the box as they’ve journeyed with us through tragedy and triumph. Some of us have even watched our diagnoses shift as new syndromes, such as CLOVES syndrome, have been described. And many of us have not only watched research development take place, but we’ve participated in the very research that has allowed us to say, “At the time we thought… but now we know…” Rare Disease Day gives us a unique opportunity to both celebrate and learn. This day inspires us to honor how far the rare disease community has come; however, it also reminds us that there is still substantial work to do. Whether you’re a patient, a doctor or a friend to someone in either group, there’s work you can do as well. On Rare Disease Day, you, too, can join in the celebration, commemorating the progress that has been made. Nevertheless, I want to also challenge you to learn about where we’ve been and how far we still have to go. Read diverse perspectives. Hear the true stories that spring from someone’s challenging medical history. Listen to a patient navigating the “unlikely.” Ask or research how you can help raise awareness. Amplify the voices and works of those with rare diseases. Join us as we not only celebrate how far we’ve come but also remember what it took to get here, to reach those monumental moments where we could finally say, “But now we know…” Follow this journey on Growing in the Groaning.

    Community Voices

    #KlippelTrenaunaySyndrome Hi to anyone listening just want to say how I’m feeling and to be honest I feel like shit, I hate this kts it has blighted my life with being bullied as a kid and then causing me to be so shy in talking and meeting new people as I always get the questions oh what’s happened and does it hurt, how long you had it and so on, i hate the hot weather as I am so self conscious I always cover up in case I get people staring. I hate the constant pain and weeping sores and the nights I can’t sleep due to being uncomfortable, I no longer work due to my health so I sit at home alone and overthink how to end it all, but not even got the courage to do that life just fucks me off. Sorry for the rant but needed to get out to people that actually understand

    Community Voices

    hey, anyone on here want to connect? doesn’t seem like anyone has posted in a while but would love to have more kts friends.

    4 people are talking about this
    Community Voices
    Kaja
    Kaja @kb121314
    contributor

    Hearing 'You're So Brave' When You're Chronically Ill

    People with rare illnesses, raise your hands please. Who else is sick of hearing, “you’re so brave”? I know it seems churlish to complain, especially since straight-up flattery is so hard to come by these days. It feels like everyone is being ironic about everything, so why wouldn’t I get excited about a real bit of admiration? They’re just being nice, can’t I take a compliment, jeez! Also, if I smiled more, that’d be great, ta. I’ve written before about the difficulty of disclosure, especially with friends. But I don’t think I covered everything I wanted to cover, specifically about the “noble illness” narrative and how hard it is to actively push back against it. You know the kind of narrative I’m talking about: someone has a rare illness, but it’s not interfering. They do everything like non-chronically ill people, not drawing attention to their disability. If they suffer, they suffer in silence, crying prettily or not at all. If there is a physical reminder of their illness, it’s camera-appropriate. Their illness does not manifest in an awkward moment — it’s always a dramatic device, not an unpredictable ailment that strikes when it’s convenient. If that sounds like the plot of a movie, it’s because it is. It’s also why I’m irritated with some of the so-called admiration I receive when disclosing my illness. To me, “you’re so brave,” sounds like a line, not a genuine expression of emotion. But what if the other person doesn’t know how to respond? How can I begrudge them for falling on the nearest pop culture reference point? Especially if it’s something like Klippel-Trenaunay syndrome, which no one has heard of? There used to be a time when I couldn’t begrudge them for it, which is why I tend to keep my mouth shut. But these days, with so much information out there, with so many blogs and sites offering a platform for people like me, I feel like the excuse is worn short. Even if you don’t know how to respond, you can always ask questions: Do you want to talk about it? Is there anything I can do to make life easier for you? Anything you’d like me to do/not do when we’re hanging out? Heck, even if you are confused and awkward, I would much rather you told me than dressing it up in euphemisms: I’m really confused about what this is. I’ve never met anyone with this before, I don’t know how to behave. I wish I knew more, I feel really awkward right now. Can you please tell me if I’m being ignorant? At the very least, admire me for my accomplishments, not for living my best life “in spite of illness.” I’m not a character in a movie, and I deserve genuine interaction. So if we want to move away from lazy narratives about illness, we have to start building ourselves up for our accomplishments and passions and strong suits – not the things we have no control over, which we cope with out of necessity.

    Community Voices

    Why language matters

    Occasionally, I get asked: “Why is everyone so sensitive about language? What’s wrong with telling it as it is?”

    I have a rather unpopular opinion. I think these people are right. They should say exactly what they think, as loud as they can, no matter the audience. They should use every word that comes to them, and say it without hesitation.

    They should do that, so that I know to stay the hell away from them.

    If you asked me to choose between hearing, “Oh, you’re so brave to live with a condition like that, I could never be as strong!” and “I would kill myself if I were you!” I would much prefer the latter. It tells me who to block, on social media and IRL. As a person with a rare illness, and someone who deals with an anxiety disorder, it’s easier to deal in absolutes than in passive-aggressive non-compliments.

    People can, and should, say what they want. What they cannot control are other people’s reactions to them. Those are ours and ours alone.

    Few things are as frustrating as investing in a friendship, or more, with someone who does a complete 180 as soon as they learn about my disease. I make a policy of honesty and disclosure early on: “Hey, I have KlippelTrenaunaySyndrome, this is what this means!” Why? Because it’s a part of me, and because I need to make sure the person I’m talking to is safe.

    You can tell a lot from someone’s language. You can tell even more from their response to being corrected.

    Some of my best friends and my closest relationships are with people who just accepted what I said to them. Who respected my boundaries without trying to push. Who rook my pain in stride, made me feel better when I felt like I was missing out, and cheered me on when I was genuinely happy.

    Some of my shortest relationships have been with those who tell me to “get over myself” and that “I would never be you.”

    But people didn’t used to get so upset about words! you may say. That’s true.

    People also used to put lead in paint and think it was a good idea. We know better now, and we are working actively to minimise vulnerable people’s exposure to lead. We may not have eradicated it completely, but we are good at signposting it and warning others to stay away.

    I feel the same about language.

    Just because it’s hard doesn’t mean it’s not worth trying. #RareDisease #KlippelTrenaunaySyndrome #KlippelTrenaunaySyndrome

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    Community Voices

    Overwhelmed

    I could use some encouragement. I don't have a single organ system that functions properly. It's so physically difficult to take care of basic needs. Just going grocery shopping or doing laundry is a huge accomplishment. I don't have a strong social support system; I grew up with an abusive family, and I was in a relationship last year that worsened my mental health issues alienated my close friends. I'm living in poverty and statistically likely always to be in that situation. About to lose my health, dental, and vision coverage in a couple of weeks, all of which I desperately need. I love working and I want to contribute positively to society. I just need a lot of accommodations in order for that to be possible. Sometimes I feel so hopeless. I don't want to die, but I genuinely just don't know how to live this way.  #CheerMeOn  #BorderlinePersonalityDisorder  #Depression  #Anxiety     #Fibromyalgia  #GastroesophagealRefluxDisease  #IrritableBowelSyndromeIBS  #Migraine  #DegenerativeDiscDisease  #Arthritis  #SleepApnea  #Asthma  #Osteoporosis  #ComplexRegionalPainSyndrome  #KlippelTrenaunaySyndrome  #LymeDisease  #Eczema
    #CheckInWithMe

    4 people are talking about this
    Kaja
    Kaja @kb121314
    contributor

    Sharing About Your Rare Condition With Friends: What to Know

    Being met with incredulity and misunderstanding is not uncommon for someone with a rare illness. I’ve never heard of this! they say, accusingly, making it feel as if they’re trying to catch you in a lie. Even when the physical evidence is right there in front of them – hello, abnormally large limbs – many have the knee-jerk reaction of trying to deny anything might be wrong. I’ve gotten good at shrugging it off – of quoting statistics. One in 20000, last time I checked. Yeah, I also have to spell it out for my GP. Yeah, I deal with it. What I’m less prepared for is when my friends do the same. For the record, I’m not talking about random acquaintances or people I know in passing. These are friendships that span decades and continents, that survived multiple moves across the world, that outlasted several romantic relationships and a few professional ones. These are people who had seen me at my best and at my worst… and there are still things they don’t understand about my body and what it means. They don’t understand that the stoicism is a necessity, not a choice. When you are repeatedly told you, personally, are not a good fit for a game-changing therapy, you have to adapt and overcome. The only other option is to drown in your own misery. They don’t understand that there are trade-offs with regards to how much you share. I don’t tell them the minute details of my illness, so my friends seem to think it doesn’t affect me all that much. That I don’t struggle with body image, with medical fears, with uncertainty or other illnesses. That because I focus on what our mutual interests are, there isn’t a part of me that is just focused on Klippel-Trenaunay syndrome (KTS) and everything that it does to me. They don’t understand why I choose not to share certain things with them. In an ideal world, there is no “buzzkill” topic among friends. We don’t live in that ideal world. I’ve learned to avoid the heavy pauses, the awkward silences. I’ve learned that what follows is withdrawal and silence. I’ve learned the hard way that there is a big gap between what you think you will do for friends and what you can actually do for them. They don’t understand why you don’t like being compared to other people with a different diagnosis. Not too long ago, I was told that other people with rare illnesses should suck it up, like I suck up my KTS. That life isn’t fair, but that it is no reason to try an extreme treatment. They don’t understand – won’t understand – that had there been a proven therapy that would help me (my individual case), I would have taken it in a heartbeat. Medical breakthroughs are celebrated, all the more when it is regarding a rare illness because funding and research is hard to come by. And still, I am friends with them. Still, I keep on hoping that they will understand. But the thing about having a rare illness is that you have to walk a fine balance between sharing and keeping things to yourself.

    Community Voices

    10 ways being a zebra has impacted me as a creative

    They say that publishing needs more “own” voices, but what does that mean for people with rare ailments? How does having an unusual condition effect a creative person’s life?

    There are plenty of examples in history where creative people were called upon to overcome a sudden or unexpected challenge. There are also times when creative drive led people to giving themselves irreperable damage. Often those stories are billed to us as inspiring and beautiful, something that we can look up to. If they can do it, do can I! But I don’t think that’s all it is. In fact, I think we’re doing ourselves a disservice by focusing only on success stories, because we can ignore all the things that go wrong all the time.

    So, for what it’s worth, a list of things about my creative life that being a “zebra” has had an effect on:

    1. Health comes first

    Artists have a rep for neglecting their own well-being: I mean, has anybody seen an episode of Sherlock Holmes? Or “The Aviator”? Have you read Beethoven’s biography, or that of Robert Schumann? You know what else those examples have in common, though? Privilege.

    See, it’s one thing to be a healthy person who makes themselves sick because of their passion for their art. It’s a whole other thing starting from a place where your condition precedes anything else. You’re aware of your body. You know what happens when you neglect it. And you are painfully, painfully conscious of the fact that not every doctor or nurse in the world will help you, not every workplace will be understanding. Being a haunted genius is not sustainable for me – more to the point, I don’t want to be one.

    2. In fact, pretty much all the creative cliches can go out the window

    Gap year? On what dime?

    Telling my boss to fuck off? Without a backup plan?

    Living a life of bohemian debauchery? Dude, I’ve spent too long in hospitals already, I don’t want to be contributing to drinking culture even further! (Not-so-fun-fact: In the UK, hospitals are essentially places where people go to get sober after a bender.)

    3. The benefits that come from a 9-to-5 are A LOT more attractive to me

    Freelancing is perfectly fine, if you can sustain it. But for me, insecurity is dangerous. Not knowing how much money is coming in every month, if I can afford insurance, if I can get support in a pinch, is not something that is sustainable in a long run. And with KTS, I don’t want to be in a position where a trip to the hospital might result in me being turned away.

    This is why, when people start talking down on office workers as being “less than” “real” artists, I cannot join in. The “desk job” gives me security to create – not the other way around.

    4. I cannot rely on my writing to sustain me

    Truth is, I have bad days. Bad weeks. Bad years. Times when the creative side of my life was stagnant, and times in my life when my health prevented me from doing the creative things I wanted. I love my writing, and it would break my heart to stop doing it. But if I had to give up one day to look after myself and my own, I am ready to do it. I, quite literally, cannot afford to pin everything on my identity as a creative.

    5. I have a front-row experience of the work of charlatans, false hope, and shitty professionals

    I’ll never forget when a doctor chastised my mother for not bringing me to him when I was a baby. I was being examined after experiencing yet another symptom of my KTS, and he turned and told her that he’d had patients he’d treated years before, perfectly cured, and sending him invitations to his weddings.

    He’s not the first person to try to guilt us into something. He will likely not be the last.

    One thing people with rare conditions have in common is a difficulty of knowing when to hope and when to be sceptic. I was lucky to be diagnosed as a baby, and that my parents raised me with critical thinking. But I also know how vulnerable one can be, and how some people exploit that vulnerability. It’s shitty, but it’s a hell of an education into human character.

    6. I also missed out on a lot of other educational experiences

    Having KTS means a lot of insecurity – not just physically, but also in terms of day-to-day life. Will I be able to do this outing? This opportunity? This challenge? There was a time when I believed I would not be able to do even a little physical exercise because of my condition, yet, here I am, years later, working towards an instructor qualification in martial arts!

    Sometimes, my mind is my own worst enemy. Sometimes, my body rebels too. And so I miss out – I miss out on gradings, I miss out on social events. I miss out on falling in love. I miss out on a lot of things that are the lifeblood of creative life. Unsurprisingly, my first poetry collection is essentially a treatise on loneliness and feeling like a monster in your own life. .

    7. Being an “own voice” comes with a degree of caution

    I have written before that I cannot speak for every person with KTS. I stand by that statement, which is why I never write about it in my stories. There is a danger in becoming “the person” to talk to about a condition because there is a danger that others might feel alienated, if their experience does not match yours completely. It’s one thing when there are multiple “own” voices, amplifying and supplementing each other. It’s another when you are literally the only person writing about it.

    8. Sometimes, you don’t want to be the only voice

    Believe it or not, I don’t want to become a spokesperson for KTS. I have it, and it impacts me, but it is not all I am. And while I have no control over how people cast me as, I have a choice about what I write, and what I leave out.

    9. “Diversity in publishing” does not trump quality

    At the time of this writing I have written over 10 novels, queried 2, plus an untold number of short stories, articles and essays. Wanna know how often my status as a diverse author has swayed an agent or a publisher?

    Never.

    Don’t get me wrong – publishing needs diversity. But it doesn’t matter if I am a zebra or not – if my writing doesn’t cut it, it doesn’t cut it. And even then, there is no guarantee.

    10. The fact that I have KTS might mean I’ll never be successful

    Publishing, as I have discovered in the last few years, is 10% actual writing and 90% marketing. As an indie author, and a freelance writer, the only way I can get people to ready my stuff is if I plug it, day in, day out, 7 days a week, or less, if technology is favourable.

    I can’t do that. I haven’t got time, and I haven’t got spoons. Most days, I drag myself home from work and I try to work on my PhD. Maybe I’m successful. Maybe I zonk out, watching old episodes of Bones. If there is time, I’ll work on my own creative projects. What I don’t have time for is tweeting, reblogging, doing livestreams, or having a reading through Instagram until after midnight. I don’t have the spoons to read my own reviews, let alone comment. That is the fact of life, and maybe that will mean I will never be successful as a writer.

    As depressing as that is, though, it’s something I’ve had to accept, because it allows me to move on.

    Once I realise there are things I cannot do, things I cannot change, things that I cannot make a priority, that makes the #Anxiety of being a creative a lot less bearable. I have space to breathe, and I have space to create. And if success comes, it will come because I built up something that was sustainable for me.

    At the end of the day, it’s the best that I can hope for.

    Community Voices

    This is how therapy fails me as an ace person

    I’d like to start with a caveat: I have the highest respect for the counselling profession.

    No tea, no shade, my hat is off to everyone who works in it – volunteers, fundraises, counsellors, psychologists, psychiatrists, everyone. I worked for a crisis hotline for 4 months, so I have an idea, okay? I admire and respect everyone who is or has worked in this field.

    Having said that, I am also a person who struggles with anxiety and #Depression. And I find that, over my experience with multiple therapists, that as soon as I mention being on the ace spectrum, it grinds any progress I make into a standstill.

    Here’s the thing: People who are aro/ace can suffer from #MentalHealth difficulties and trauma as much as any other population. Some of us are spiritual/religious. Some of us have rare diseases. But there is no causation – having experienced some kind of trauma is no more a predictor for asexuality than having red hair, or loving “the Smiths”. Being aro/ace doesn’t mean you’re broken, but it also doesn’t mean it won’t ever get brought up in therapy.

    Some examples:

    The therapist and I are talking about KTS and how it affects my life. I say I feel like there is a part of me I can never share with others. The therapist says: “I know it’s hard. But that doesn’t mean you won’t find a man* who will be attracted to you, or that you will not be loved.” I ask what attraction has to do with it, and spend the rest of the session talking about how it’s not even the point because other people’s attraction, when unwelcome, is more #Anxiety-inducing than self-affirming.

    Next session, we’re talking about the anxiety. I want to work on strategies to deal with it in social situations. Therapist digs into my childhood. It comes out I was viciously bullied over multiple years. “It’s no wonder it put you off men*” the therapist says, and I spend ages telling them how I have made plenty of friends since, and that I recognize there is a difference between people who love you and bullies, and why are we even discussing this when it’s not one of my goals?

    Third session, we circle back to goals, and it’s time for a game of Schrödinger’s Sex Drive. Therapist says, “I know you feel lonely. But I want you to know, it’s admirable that you’re standing up for what you believe in, and you never know how you will feel once you meet the right man*.” I concede that you cannot, indeed, prove a negative, wondering why the hell I’m wasting money on this shit. I leave the session and decide I’m not coming back.

    Therapy is not meant to be comfortable. A professional worth their salt will challenge you, the patient, on negative or damaging believes. But herein lies the rub: unless you, the patient, have identified “asexuality” as a problem, and have “improving sex drive” as one of your goals, there is absolutely no reason for them to be pushing back on it. At best, it wastes your time and money. At worst, it can actually set you back.

    Let me explain:

    As a person with anxiety, it helps me work through scenarios and come up with scripts to deal with scary situations in a safe environment. And coming out as aro/ace is not always guaranteed to be safe, even to other queer people. When my therapist infantilizes me or derails the conversation, that puts me on the defensive. That makes me less willing to share. And it makes me wonder just how professional that person is.

    For the sake of argument, let’s say my trauma really is at fault. Let’s say the bullying was so terrible it gave me PTSD and put me off men* forever. Would you, a professional, tell a traumatized person to jump into random sexual encounters? Would you tell them they’re not trying hard enough? Would you say they’re “playing the victim” because they need to feel safe and/or loved before doing a terribly intimate and vulnerable thing with someone else?

    What about someone who is religious? Would you tell them their personal boundaries about extramarital sex are foolish? Would you, without checking that this is actually the problem, encourage them to do something they are extremely uncomfortable with, for the sake of their “recovery”?

    Let’s say you have a client who IS waiting for love. Would you pat them on the head and say they should just ignore their instincts and go through with it, with someone they don’t feel safe or comfortable with, because “you cannot possibly know”? Would you tell them to doubt their perception of the world?

    As a professional, the above paragraphs should make your hair stand on end. If a client relayed that to you, you would say that’s coercive, and hopefully coach them to stand up for themselves and enforce boundaries. But as soon as asexuality gets brought up, suddenly the caring, self-protective discourse around trauma, personal boundaries, and sexual coercion gets thrown out the window – that’s a huge problem.

    I cannot overstate this – therapy is an extremely vulnerable process. A patient trusts their therapist to at least not make things worse for them. And yes, I know one measly article won’t make you change your whole outlook on what asexuality and aromanticism are. But as therapists, please practice believing your patients. Please don’t make us doubt our own minds and feelings and instincts. Don’t make us any more vulnerable to emotional or sexual coercion. Help us assert boundaries and build healthy attachments. We promise you – if one day the right person “makes us normal”, we WILL tell you about it.