My introduction to Marfan Syndrome + Marfact #2

First things first, here’s your Marfact for the day (provided by the Marfan Foundation)!

Marfact #2: Marfan syndrome is a disorder of the connective tissue, which holds all parts of the body together and helps control how it grows.

Today I want to talk a bit about how and why the words Marfan Syndrome first came into my life.

1st Eye Surgery

I was 4 years old the first time a doctor ever suspected that I had Marfan Syndrome. To be more specific, it was my optometrist the moment he found out that I had ectopia lentis, or in other words: dislocated lenses. This is a fairly rare ocular finding overall but is commonly found in cases of Marfan Syndrome and a few other connective tissue disorders. My mom had taken me to the eye doctor thinking that I may have had lazy eye. Little did she know the foundations of her world were about to be shaken.

Not long after that initial finding we were being sent 8 hours away for surgeries and I was undergoing evaluations at BC Children’s Hospital for a rare genetic disorder no one in my family had ever even heard of before.

Looking back now, the part that seems the most frightening to me is the outcome. Even at that young age I did have a few alarming characteristics of Marfan Syndrome, most notably the dislocated lenses. As always, a cardiologist did an echo-cardiogram to see if my aorta was enlarged (another common finding in MFS). Thankfully, at the time my aorta was perfectly normal, which at such a young age isn’t all that uncommon in MFS.

The scary part was that based on this finding we were told by the geneticists evaluating me with 100% certainty that I did not have Marfan Syndrome and that I wouldn’t need any future follow up care or screening. And, that was that. We were never told that I should get echo-cardiograms as I aged to make sure things continued to look normal, or that sometimes a negative diagnosis at a young age can change into a positive one as you grow and more symptoms appear. We were simply told that I did not have Marfan Syndrome, end of story.

At the time this was obviously fantastic news. But it could have ended tragically had my aorta not been so stable during my childhood and early teens. I was always on our school’s sports teams and participating in anything gym class threw my way, never having any followup screening done on my heart. And, it wasn’t until almost 11 years after we initially heard the words Marfan Syndrome that I was properly diagnosed with a connective tissue disorder.

It’s frustrating looking back on it. I spent so many years scared and in pain with increasing amounts of unexplained medical problems. I saw countless doctors and out-of-town specialists, went through endless tests and sleepless nights. All for the sake of so desperately trying to figure out what was wrong with me and why my body seemed to be falling apart, when the answer had been there all along.

And, my hope is that with increased education and awareness that instances like this will become less and less. Doctors, specialists and even patients will see the signs and symptoms of a connective tissue disorder and recognize it for what it is and get the proper help. I’ve heard so many stories of people who’ve spent years – decades even – in unexplained pain with countless medical issues, before they were properly diagnosed. Hopefully those stories will become fewer and fewer.

To learn more visit the Marfan Foundation at www.marfan.org

Marfan Syndrome Awareness Month – Marfact #1

February is Marfan Syndrome awareness month! Just like last year, in order to raise awareness I’ll be posting a Marfact a day – provided by the wonderful Marfan Foundation (formerly called the National Marfan Foundation).

The Friendship Circle also put together a really great list of 12 Resources For Marfan Syndrome Awareness Month. I’m really honored to say that they included this blog as one of the resources listed! A huge thanks to them for that and for helping raise awareness!

Marfan Syndrome affects approximately 1 in 5,000 people, and it’s estimated that half of those people are unaware that they have the disorder. Sadly, when MFS goes un-diagnosed it puts you at risk of a sudden, early, and other-wise preventable death. That’s why it’s so important to raise awareness and help educate people on the signs and symptoms. Awareness really can save lives!

Marfact #1: Marfan Syndrome is a life‐threatening genetic disorder that affects many body systems, most notably the heart and blood vessels, the bones and the eyes.

To learn more visit: marfan.org

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The photo above was released by the Marfan Foundation for use as a profile picture during Marfan Awareness Month. Feel free to download it and use it as your social media profile picture.

Better. Much better.


Hi everyone! Sorry, it took me a little longer to write an update than I had planned. But, I’m ecstatic to say that my bladder is now, after slowly but steadily improving over the past few days, almost completely back to normal. I am so, so happy that it corrected itself eventually and that I didn’t end up in the hospital from it this time. It’s odd how much you take these strange, little day to day things for granted, until something messes it up and reminds you how lucky you are for it. Things like being able to eat, walk and yes, even empty your bladder!

So, that was my early Christmas present! Well, that and I got my Tommie Copper long sleeved compression shirt and gloves in the mail yesterday. The compression provided while wearing them is supposed to help stabilize and support muscles (joints too, I’m hoping) and improve pain for a lot of people, while the copper that the clothing is infused with has also long been thought to have positive medicinal effects. I’ve heard really good things about them from others with connective tissue disorders and chronic pain so I thought I would give them a try.

As with anything I get online, I was worried about them not fitting properly, especially because of the way their size chart is set up; it doesn’t offer any custom options for the clothing as far as body shape and height, it just takes into account your measurements width-wise, so I was pretty sure it would be tailored to someone of average height and way too short for me. But, I was super happy to find that the shirt is super long and easily reaches my lower back where the majority of my back pain is.

Because of the material the clothes are made out of, a single size can work for a really wide array of heights or particular body shapes. Though, that being said I’m not sure what effects – if any – the differences would have on the amount of compression the clothing provides. I will definitely do an update letting everyone know how they work for me in case anyone’s interested in trying them out. If they work well I’ll hopefully be able to get the pants and socks too.

Anyways, thank you all so much for the continued comments and support. Sorry to all of my fellow bloggers for the lack of reading I’ve been getting in lately. Hopefully I’ll be stopping by all of your blogs and catching up soon! I hope you all know how much you mean to me, always.

In case I don’t make it onto my blog anymore before the 25th: Happy holidays to you all!! I hope everyone has a wonderful Christmas!

Christmas by Joe Buckingham

Much love and Merry Christmas. ♥

– Katie

The minutes pass like hours.

Nightshade by Marc

Well my dear readers, today has been one long miserable day to say the least. I woke up at around 5:30 am or so with my signature headache and the overwhelming urge to vomit. I hadn’t hardly had anything to eat so there wasn’t really anything to vomit up but the waves of intense nausea and stomach spasms kept coming. This cycled on about 3 times, at once per hour and every time was worse than the last. Please make it stop; please don’t make me dislocate anything are the thoughts that kept running through my mind.

I never thought I’d miss my old headaches. But, to have a headache that’s so severe in it’s throbbing and overall pain that just turning my neck makes me cry out, then having to run to the bathroom and then traumatize my body with the vomiting that follows, is just about as miserable as it gets for me. And to make it even worse, I can’t keep anything down so any type of pain relieving medication is off of the table.

I was only finally able to take my medication a bit ago and every inch of my body was screaming at me for it. My headaches never used to come with nausea at all and now all of a sudden every severe headache I get the nausea isn’t far behind. I’ve thrown up more in the past 2 years than I ever had in my entire life.

I’m so relieved that it’s eased off now. The nausea has lifted and the headache is more background noise than anything. I always feel so exhausted and kind of hung over after these episodes, so I’ll probably be in bed early tonight.

Thank you for listening and much love.

xx

-Katie

Up and about.

Stunning picture taken by Jim Greer @Flickr

Hi to all of you beautiful people. Sorry that it took so long for me to update, I’ve still been having a pretty rough time pain-wise. That being said, my pain medication was upped last week and since then it’s been getting a bit better. Yesterday I was even able to go buy some (desperately needed) new pairs of pants after my doctor appointment. It feels good to accomplish things – no matter how small – after barely being able to make it out of bed for a week.

I’m hoping that things will continue to improve and I’ll be able to lower my medication back down soon. For now I’m mostly just biding my time until I can see the neurologist and maybe get some treatment options for my spine.

I want to say thank you, again, for all of your wonderful comments and emails of support. You all have such amazing, kind hearts and you really do mean the world to me.

Sadly, I haven’t been able to do too much drawing lately but I have started a new piece that I’m really excited about. I’m trying some new things with it and attempting to use my prismacolor markers. On that note, I got a new OTT-Lite lamp with a magnifying glass and I must say, looking through it is like looking into a whole new world! As most of you know I don’t have very good eyesight but with this new lamp I can actually see what I’m doing on an entirely new level! I didn’t know just how poorly lit my work-space was before now.

It’s really nice to have a hands-free magnifying glass too. Before I would just have a pencil in one hand and the magnifying glass in the other which is a bit of a pain when you need your free hand for other things.

I’m not going to post any pictures of my new drawing until it’s all done. I want it to be a surprise. :)

Much love to all of you.
And thank you for everything. xx

Brittany’s Story

I’m really excited today to feature a guest post by Brittany, an incredible young woman (and fellow Canadian!) who has Ehlers-Danlos Syndrome, in honor of National Pain Awareness Week. I was first connected with her through the amazing Sandy Smeenk of the ILC Foundation and have been lucky to have her in my life ever since. She does a lot for other people living with chronic pain and has been a deeply cherished source of support for me.

Brittany

My name is Brittany Crichton and I am 24 years old, living with Ehlers-Danlos Syndrome and the many other complications and side diseases that come along with it.

It’s hard to say how my pain started because I always remember it being there. I remember people always giving reasons for it like maybe it was from gymnastics, it’s just growing pains, etc. As I talk about the topic of pain with my friends I realize that I can’t remember a day that I’ve woken up and not been in pain, or had my pain level lower then an 8 out of 10. I can’t remember what my life use to be like, and it is sad that this has become the norm for me.

From the age of 18 my symptoms got progressively worse, and at the time we had no idea I had EDS. I went from hospital to hospital, doctor to doctor and had thousands of tests done only to be told they had no idea what was wrong. It was so hard trying to explain to doctors what I was feeling, and for them to brush me off or just send me to another doctor because they did not want to deal with it. Finally, at the age of 22 my family and I made our way down to the Mayo Clinic in Rochester Minnesota and was finally diagnosed with Ehlers Danlos Syndrome.

It is hard for people to manage my pain because I do not absorb pills like a normal person, so it takes a higher dose to make a dent and nothing makes an impact or is able to take the pain down. It was very hard work but I have finally learned to cope with my pain being at an 8 everyday thanks to physio and my naturalpath. When my pain does escalate that is when I have to go to the hospital to help get it under control.

My life has dramatically changed since I started getting more symptoms and the diagnosis of EDS. The life that I wanted isn’t the life that I can have. I wanted and had my dream career only to have it taken away. I cannot go out and go to a party with my friends without suffering major consequences for it. There are times when I think is this really my life, why am I still here living in a life like this? But then I stop and think, I am glad it is me and not anyone else in my family, or my friends because I know I can handle it.

At first I was seeing all of the negatives that came from this disease, but then I had to look at it from a different angle; look at the amazing people I’ve met from having this disease, people who have the same disease and can relate. I am making a difference in the next generation of children living with chronic pain and rare diseases, and if I didn’t have Ehlers who knows who would be doing those things for these kids. EDS has changed my life but it’s not all bad. That is why I started my own website to show that; yes, even though I’m living with this painful disease, there are good things that can come from all of the bad if you look at it from a different angle.

Peer support is very important and I am getting in contact with people all over the world and it’s amazing. I am so thankful for that, and thankful because I would have never have been in contact with Katie Robertson otherwise.

So remember on those painful days reach out to others who feel the same way and who are going through the same, because we are all here for each other.

Click here to visit Brittany's website.

You can visit Brittany’s website here and follow her journey through her blog here.

Some drawings, some ramblings.

Sunflowers for the friends by Claudio.Ar

It’s been almost a week since I started the morphine and I have to admit, it’s not working as well as I’d hoped. That being said it is an improvement from before, and it’s certainly making my nights a lot more bearable. Perhaps it’s a matter of proper dosing. The fact that I’ve been getting some sleep is a miracle in itself. Spending a day with pain is a lot more bearable if you’ve gotten a decent night’s sleep. I’m tolerating the morphine really well in regards to side effects. The ones I am experiencing are the same as with codeine, only slightly stronger. But, no nausea or vomiting which is what I was the most worried about, so yay! I have another doctor appointment Friday morning to discuss how the new medication is going.

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I’ve been doing some more drawing lately, which makes me happy. I had started drawing this eye but my experiment with colored pencils went very wrong and I ended up having to throw it away. Note to self: don’t do a lot of the work before you try out something new. Experiment first so that if you screw up you don’t throw away something you spent a long time working on. That should have been a no-brainer but alas, at least I learned my lesson!

IMG_3296
As for this drawing, it’s finally finished! I really like to have something like this to work on when I’m bored or fidgety. I pretty much always have one on the go. There’s not too much pressure not to screw it up because it was always meant as more of a doodle in the first place. Then I don’t have to avoid it when I’m not feeling good or lacking sleep for fear that I’m going to muck it up. Muck away!

I was in the midst of a Doctor Who marathon when I started this, that may explain the robotic eye appearance. You’ll undoubtedly notice the pen smears everywhere, I’m terrible for dragging my hand through the ink before it’s dry. I’ve looked in the mirror to find pen on my face many times this week and it always makes me chuckle.

Much love everyone, hope you’re having a great week! ♥ 

Doctor appointment day.

gloomy forest by gorchakov.artem

Things change today, one way or another. I’m starting this post before my doctor appointment, I’ll post again afterward so I can blog about how it went.

I’m not as gloomy about the thought of upping my medication as I have been. I guess the pain is just too much now that it makes me feel option-less. Just getting through the day lately has been an enormous challenge and it’s exhausting. I wake up in the morning after another largely sleepless night and feel utterly melancholy at the thought of doing it all over again.

I’ve been spending most of my days this week sitting, hunched over forwards, because it’s the only way I can lessen the pain in my back. Of course it’s uncomfortable in a dozen other places but it’s the best I can do right now. I can’t stand very long at all before the pain is nearing unmanageable. 

Thanks again for all of your support! It really does mean the world to me. I’m hoping things turn around soon, I’m tired of the negative posts. I’d like to have something happy or uplifting to say! Hopefully soon, yeah? :)

Note: I know I just posted this song (with it’s official video) but afterwards I found this amazing animated version by an incredible artist named Ryan Woodward. I love it!!

Allergic to Life: a guest post by Kathryn

Hi everyone! For this post I’m thrilled to announce that Kathryn Chastain Treat who blogs over at Allergic to Life will be guest posting as part of her Book blog Tour!

Kathryn and I have been mutually following one another’s blogs for some time now and I’m super excited for her to share a bit of her story with you all.

Before the beginning of the guest post, here’s an introduction to her book:

Cover1FinalFront

Imagine that the very food you eat and the beautiful carpet on your floors start to make you feel violently ill. Your contact lenses cause your eyes to burn and water uncontrollably. Trace amounts of mold on other people’s clothing cause you to become unable to hold a thought or get it from your brain to your mouth during an everyday conversation.

The life you once knew is gone and you have become a prisoner of unexplainable and severe allergies and sensitivities. In this new life you can no longer shop or visit friends in their homes because there are too many chemicals and fragrances there. You become plagued by one mystery infection after another and no doctor or specialist seems to be able to give you any explanation of what’s causing your terrifying symptoms. Depression sets in and becomes your constant companion as you try to cope with the stress of being sick and of struggling to live within your new-found limitations.

 “Allergic to Life: My Battle for Survival, Courage and Hope” is the story of one woman’s journey through a battle to reclaim her life and overcome depression caused by an exposure to toxic mold in her workplace.

Enter Kathryn:

I would like to thank Katie for hosting my book, “Allergic to Life: My Battle for Survival, Courage, and Hope”, on her blog as part of it’s first ever book blog tour.

Allergic to Life is my story of a journey through a battle to reclaim my life and overcome depression caused by a workplace exposure to mold. I suffered infection after infection as we tried desperately to find the cause and treatment. Writing in my journal during the many nights when I was alone and couldn’t sleep, helped me.

It’s 3:41 in the morning and I can’t stop crying. I am hurting so much. It makes my chest hurt to cry but I can’t help it. I am trying to be strong but it is sooo hard. My heart is breaking! I am missing out on everything. I am feeling so angry and alone. I want Rick here to hold me. I am never going to be normal again. I want to disappear and forget the treatments. I would run away and disappear! I want to live, but not like this! I want the world to hear our stories. Not just mine. God grant me the strength to carry on!!

During those long and lonely nights I poured my heart out into my journal. I couldn’t burden my family and friends with all that I was going through when we were miles apart from each other. When I couldn’t sleep I wrote until the tears stopped flowing and I could finally fall asleep. During one of those late nights with my journal propped in my lap, I began writing about the loss of my identity. I am including an excerpt from the poem.

WHO AM I?

Who Am I?
Stripped of all the things
that were once me
No more contacts—I now
have the weight of my glasses on
a face that always hurts

Who Am I?
My hair is streaked with gray
where glorious color once was
My cheeks are pale where
once the glow of a soft
blush warmed them

Who Am I?
The mother I once was who could do things
for her daughters can now barely do
for herself
The wife and helpmate can
hardly help herself

Who Am I?
I am the one who hides behind the mask—
not revealing my from or smile
The one people look at with pity and
misunderstanding

Who Am I?
I am still be but in a
different wrapper
The one who will come out of this cocoon—
spread her wings and fly
The one who will look different on the outside
but not on the inside

I am thankful that depression and anger are no longer my constant and daily companions. My life is still a struggle but I am learning to be okay with who I am and to find happiness within the boundaries of my new-found life.

In celebration of my life and the completion of Allergic to Life, I am offering a giveaway of three autographed books through rafflecopter at the end of the blog tour.

Allergic to life is available at Barnes and Noble and Amazon (prices vary). Autographed copies (US & Canada Only) will be available on my website.

You can follow me on my blog, on my Facebook page, on twitter, and LinkedIn.

About the Author
Author Photo2Kathryn was a vibrant and active 44-year-old stay-at-home mother of two when she decided to venture back into the workplace. Though she had been out of the workforce for 18 years, Kathryn had always been very active in community events – PTA, school board and the local 4-H club – and was always the first to volunteer to help out friends or family.
Little did she realize that this opportunity for professional growth and financial independence would force her through a never ending series of battles with the medical and legal community, make her a prisoner in her own home, and mire her in severe depression. After workplace exposure to mold caused severe immune system dysfunction, Kathryn’s world turned upside down and nothing would ever be the same. She was forced to give up her most treasured possessions and was no longer able to be the active person she always had been. Relationships were tested and many did not survive. Defeat always seemed close at hand as illness thrust her into a battle not only for independence, but for her life.
Kathryn’s story of self-doubt, loss of identity, and the pain of skepticism – from the medical and legal profession – is a heart-wrenching journey of endurance, hope and hard-won triumph. Her experience with mold exposure gives her a unique perspective on the physical as and emotional effects of mold exposure. Read her story and learn how she was able to overcome these many obstacles to become an advocate for her own health.

What did I get myself into?

Well, I finally got my procrastinating bum in gear and dealt with an enormous amount of things that needed to be done when I seen my doctor. And, as I was dreading, I walked away with an insane amount of tests and appointments.

To start with I need an ultrasound on my kidneys, and also another one specifically on my gallbladder to check on my polyps. I need to go see a urologist out of town for bladder retention problems and find out whether or not there could be something causing it other than my spine. I also need to go back to Vancouver – yet again – to see the orthopedist that we had to cancel on earlier this year when my rib subluxated (we didn’t think I’d be able to handle the appointment because I could hardly move). While we’re in Vancouver we’ll also be seeing a neurologist about diagnosing (or ruling out) several different brain related complications that can arise in tissue disorders like cervical cranial instability and chiari-malformation.

We also need to talk to the neurologist about getting an upright MRI of my spine to check for dural ectasia and tethered cord (my gp isn’t allowed to refer patients for MRI scans). There are only two upright MRIs in Canada, one is in a private clinic in Kamloops that we can’t afford and the other one is in Vancouver but used only for research purposes. We’re hoping that since my disorder is rare that maybe if we talk to the right people I could qualify as research. While we’re in Vancouver we’re going to go see my ophthalmologist to check on my eyes.

My doctor and I talked a bit about my hip problem and how in her opinion since we already know that it’s subluxating and that’s the cause of the pain that she’d rather not order an x-ray on it. I’ve already had and will need so many imaging tests that she figures it’s best not to expose me to more radiation when it can be avoided. Since there’s nothing we can do for my hip right now but treat the pain I agree with her. I’m already leaps and bounds over the recommended doses of radiation so that does seem like a reasonable decision.

I think – and hope – that I remembered all of it. My stress levels always go up when I know I’m going to be seeing so many new doctors and getting poked at so much. That’s part of what sends me into my spells of avoiding my doctor altogether; denial’s much easier that way lol. I am grateful though, that I’m being looked after medically now more than in the past. It’s nice to have a doctor that willingly recognizes the ridiculous amount of avenues that need to be checked over with a disorder like mine.

On another good note, my doctor’s agreed to work and talk with the ILC Foundation when it comes to my care, as well as pass the contacts for the EDS aware doctors they’ve provided us with to the necessary specialists that I see. Thanks a million Sandy!!