Me, Myself, and I

Me, Myself, and I

I was born a blonde haired, chubby cheeked, summer baby, July 5th ’93, making me 20 years young – though, I feel much older. I started off my life in an old trailer, in a small town, both of which I still reside in, and things were pretty normal for a time.

When I was four my mom thought I had lazy eye and took me to see an eye specialist. Turns out my lenses were both dislocated (ectopia lentis) and I was only seeing out of the edge of them. Not too long after that I was having two eye surgeries to remove both lenses and being evaluated for a connective tissue disorder (Marfan Syndrome).

The following September I started kindergarten and for the most part things seemed to return to normal. But the older I got the more mystery medical issues that would appear, until by 10 years old I was living with some form of pain everyday.

High school was fun for me while it lasted – like most teenagers I always had something going on and keeping me busy and happy. But, eventually an excruciating, constant, and ever worsening pain in my ribs forced me to continue schooling at home while we tried to find answers. Despite various trips to the hospital in agonizing pain, more tests than I could count and a plethora of degrading and heartbreaking doctor appointments – during which I was told “there’s nothing wrong with you” and “it’s all in your head” we wouldn’t find any answers for years to come. Today, I have a firm diagnosis: a connective tissue disorder. My doctors have always been fairly certain that my tissue disorder is Marfan Syndrome (I meet the major criteria having ectopia lentis and aortic root dilation), but the more new symptoms I develop the more they wonder if it could actually be Ehlers-Danlos Syndrome instead.

It’s been a long time since all of this started and though the health issues continue to pile up I’ve learned to live and cope with my disorder the best that I can. The rest of the details of the in-betweens and ups and downs are all in the blog posts.

Thank you so much for your support and readership!

– Katie xx

24 thoughts on “Me, Myself, and I

  1. Wow Katie, are you gifted? Seriously, I often wonder if that is not the case with EDSer’s? My daughter finally got her first diagnosis: Orthostatic intorlerance due to a connective tissue disorder. She has yet to see a geneticist – so far we know it’s not Marfan (or so that’s what we think as there is no heart defect). She also has cerebral hypotension. No wonder she loves to stay in bed. :)

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    • I’m so glad you’ve gotten some sort of answers for once!! I can remember how bittersweet it was to finally have a medical professional acknowledge what was wrong with me! I’m sorry about the bummer diagnosis though.

      I have POTS which is very common with EDS but also young, tall women (and similar to orthostatic intolerance). Cerebral hypotension can be linked to chiari-malformation which is a potential manifestation of connective tissue disorders. I would suggest getting some imaging tests to check (I’m also going to have this done fairly soon). I can connect you with the executive director of the ILC foundation if you’d like – she’s very active in EDS research as well as connecting young people in Canada who have it and disorders like it to the appropriate tests and doctors. She’s incredible and unbelievably kind.

      I’m also glad to hear her heart is looking well so far! It would be wise to keep an eye on her heart – contrary to what a doctor may say it’s not entirely unheard of for heart defects to present later on. My heart looked absolutely fine until I was 17 and it’s still in the very mild stages of aortic dilation now at nearly 20.
      It’s very important when a connective tissue disorder is suspect but they aren’t 100% sure which one that you continue with yearly echocardiograms (once every 2 years if thing’s are looking good). Better to be safe than sorry as they say! Even EDS can potentially effect the cardiovascular system.

      In my personal experience geneticists have never been too helpful – they tell me they’re absolutely positive I have a tissue disorder (which is obvious), they think it’s probably Marfan Syndrome (I disagree for the most part), but they also missed a lot of extremely important steps (for better or worse they’re still an important part of living with tissue disorders). I hope against hope that you get to see a good geneticist!! But, if you don’t just remember; don’t get too discouraged and don’t begin to doubt yourself. I’ve met more than my fair share of pompous, egotistical doctors who would prefer to psychoanalyze rather than actually put in the effort to figure out what’s going on. Sadly it’s a nationwide problem. I’ve heard stories like your daughter’s and my own more times than I can count now. So, no matter how alone you both might be feeling, you aren’t!

      To be honest I think I’d be entirely lost without research and the online group of EDSers and Marfs that I’ve come into contact and shared experiences with. I’ve gotten far more helpful information from patients themselves than I ever have with doctors. Plus they are all an enormous source of understanding and support for me – the kind you just can’t get from people who aren’t living it.

      Sorry for this novel of a response! There’s so much I wanted to tell you and let you know about and my brain is a mess from lack of sleep.

      If you’d like to email my mom just to have a “mom to mom” chat with someone who knows exactly what you’re going through she’d be more than happy to chat. Her email is leanne-robertson@hotmail.com and mine is katie.robertson@live.ca

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      • Thank you so much Katie. And yes I would love to be in contact with that person (ILC). About Chiari, I’ve checked her MRI myself (I’m a biologist) and it was fine in that regard. The neurologist told her last week that he wasn’t surprised about her cerebral hypotension – check my post The 8th as there is an interesting article in there on the topic. He doesn’t believe in POTS per say. I suppose he figures it comes from something and doesn’t care to label the orthostatic hypotension as a syndrome. That’s fine by me as long as we take care of it.
        Her heart condition does bother me as I have written many courses on the cardiovascular system and I am worried that her current state will have an impact in time – and as you say, it may not be that far down the line.
        To be honest, I’m a little afraid of seeing a geneticist as I know all too well that if come across the wrong one it may hinder her treatment once again. Enough is enough – and her state is so bad right now that I would qualify this of medical negligence. It is all so frustrating as you know. So far, according to the neurologist, Gen would probably have the hypermobility type. The good thing is that she doesn’t suffer from dislocations – although she suffers easily from strains. And yes, in time I would love to speak to your mom! xox

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        • I’m relieved to hear that you could read your daughter’s scan!! Personally I’ve come across that worry a lot – not knowing if whoever’s reading your scan knows of the rare tissue disorders and what to look for with them. You seem very educated in what your dealing with which is 110% amazing and so important. I find we have to be our own advocates for the appropriate treatments so much of the time – which is absolutely ridiculous – but in our cases knowledge is power!!

          Your doctor’s take on not labeling orthostatic intolerance as it’s own syndrome does make sense considering it’s more likely just a manifestation of the tissue disorder, not a separate syndrome. Sometimes my heart rate doubles when standing and my blood pressure drops enormously – sometimes are worse than others.

          From what I know of EDS if I have it mine is also most likely the hyper mobility type. I never used to dislocate until a few years ago (apart from my lenses) but the older I get the weaker my tissue gets and the more things that subluxate. I guess it’s very important with tissue disorders to build/maintain muscle (carefully) to help make up for the lax tissue – easier said than done when you feel like crap and aren’t in a lot of pain!

          I completely understand you worrying about her heart. The echos are extremely important. My new cardiologist personally doesn’t think I have Marfan Syndrome either (because my aortic dilation is so mild she thinks I’m more likely EDS, but who knows each doc has a different opinion lol!) but she still sees me annually for safety’s sake, which is comforting.

          So much of what you’ve been through should qualify as medical negligence! The care system in Canada is largely lacking, I learnt a lot about it at the pain summit in Ottawa last year, the reality of it is not pretty. Here’s a link to that post talking a lot about the desperate need for a national pain strategy in Canada. https://connectivetissuedisorders.wordpress.com/2012/04/27/the-canadian-pain-summit-part-i/

          I’m glad you’d like to talk to Sandy (with the ILC foundation)! She has been an enormous help to my mom and I. She spends countless hours of her own time trying to better the lives of people like us – a rare thing. I will just let her know (I wanted to get your permission first). She also connected me to several other amazing teenage and young adult girls in Canada with EDS.

          As soon as I’m done typing this I’m going to go check out that post you mentioned.

          :)

          Hugs to you both.

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  2. Oh my god you are so good and you are so beautiful
    I started liking you very much, being a teenage you a maturity level which is very high. I love my kitty you are beautiful and I am glad i am here and have found in a sea of blog. you are so cute

    Thank you so much for creating this blog and writing

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    • Thank you so much for your support and all of your kind comments!! And also, thank you for leading me to your wonderful blog and story – I’ll be following them form now on.
      Thanks again! Take care!

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      • if possible read about me

        you are a darling
        i love you
        you are like a kid who is so cute
        intelligent, great artist, a beautiful photographer
        great poet, suffering from a syndrome which is very difficult but still you are very good, excellent

        I love you and I am with you

        thank you very much

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  3. Katie, you are an amazing young lady. Thank you for the follow at Justice for Raymond it allowed me to find you. You do write an interesting narrative of your illness and are so brave to handle it so well. Good luck and I will be looking in on you —

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  4. Thank you very much for your kind comments on my blog! I have since had my diagnosis of Fibro, but I think I need to find a new Dr, as my current one seems to believe that other than losing weight there is nothing that he/I/them can do for me. Based on what other people who have fibro are saying, I know this to not be the case, so why doesn’t he want to help me?

    Suggestion on a future post on a rare disorder: Robinow Syndrom. My nephew is one of a handfull of people in Canada who have it (last I heard, less than 15 people!)

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    • I’m glad that you got your diagnosis, being told there’s no name for your symptoms can become very frustrating after a while! Views on fibro and it’s complexity are continually improving but sadly there are still so many ignorant public and medical opinions out there. My mom faced mostly negativity from many health professionals throughout the years and before my diagnosis I did too. My transition into fibro was so odd, I could see it happening, the longer I’d been in chronic pain the more odd changes my brain and body went through until eventually, aside from the pain, I just never felt normal. Now my nerve signals are always firing like crazy, stubbing my toe hurts ten times more than it used to. It’s strange and interesting.

      I don’t believe that there’s nothing that can be done for your fibro other than losing weight. From what I’ve learned of it over the years that isn’t correct at all. I agree with your thoughts on maybe finding another doctor, keep fighting for proper care.

      That is a very rare disorder indeed! I had to look it up as I’d never heard of it before. Next RDA month I will definitely include it. I hope he is getting good care.

      Take care!

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  5. Katie Michele

    you young lady are such an inspiration. I have just found out about your site within the last 24 hours and have spent several hours on here learning. the more I read the more my respect for you grows.

    people like you really do make this world a better place.

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  6. Hi
    My name is Claire, I am a 36yr old mom of two beautiful children, one of whom, Sam, is 4 and has been recently diagnosed with Marfan’s. I found your blog while googling and I love your honesty and writing style. I work in a school with teenagers and it is lovely to see how open you are and it reassures me that whatever my son may have to face, there is a very supportive online world out there that he can reach out and connect to when he is ready. I look forward to reading your posts and learning from you : )

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    • Hi Claire,
      The deeper I get into the online Marfan community the more I get to experience how amazing and supportive everyone within it is. It’s like no matter where you live or how isolated you can feel sometimes you are never alone and always have someone who understands what you’re going through to turn to for comfort and advice. I wouldn’t trade that for anything. I am really glad that you like the blog and hope you continue to read it :) If you ever have any questions or are in need of support feel free to email me. If you haven’t already I would suggest checking out the NMF Connect group at this link: http://nmfconnect.marfan.org/
      It’s like facebook for those with connective tissue disorders and their family members. :)

      Like

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