Marfact #4 + The importance of a diagnosis.

In honor of Marfan Syndrome awareness month I’ll be posting one Marfact each day to raise awareness. All facts – unless otherwise stated – have been provided by the wonderful Marfan Foundation.

Marfact #4: Knowing the signs of Marfan syndrome can save lives. Common outward signs are long arms, legs, and fingers; tall and thin body type; a curved spine; and a sunken or protruding chest bone. 

Visit www.marfan.org for more information.

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Many  people with Marfan Syndrome had never heard of the disorder until a doctor, a friend, a coach, or even a stranger noticed their symptoms and mentioned Marfan Syndrome to them. That is exactly why knowing the signs really can save lives. Due to ongoing research, advanced medical treatments and medications, the life expectancy for people with Marfan Syndrome is now the same as for those without. That’s incredible! When my mom was first told that I might have MFS the only information anyone in my family could get their hands on said that if I did in fact have the disorder I would likely only live into early adulthood. Things have definitely come a long way since then. But, as amazing as this improvement is, it’s entirely dependent on having the proper diagnosis, therefore being able to receive the proper medical  screening and treatments before a life threatening emergency occurs.

Another reason diagnosis is so important is that if an emergency does occur for someone diagnosed with MFS – such as an aortic dissection – knowing that person has Marfan Syndrome and is therefore at a 250 times greater risk of having an aortic dissection can help make sure that the proper tests are done first and that the correct diagnosis is made faster – which can make all the difference in that kind of emergency situation.

I’m very grateful to have a diagnosis. It was a long and very difficult road to get there but knowing what type of disorder I have has lifted a huge burden of uncertainty off of my shoulders. I don’t have to wonder about it anymore and that’s a huge relief. And I think that the difficulty in getting there only made finally having answers all the more meaningful. Not to mention getting diagnosed allowed me to find the amazing, loving and supportive community of people with connective tissue disorders that I’ve been lucky enough to connect with. They’ve seen and gotten me through a lot of the more difficult aspects of being chronically ill and I can’t imagine life without them. We’re one big, bendy family. ♥

Marfact #3

*My apologies ahead of time if this post is poorly written. I’m functioning on such a small amount of sleep that it’s a wonder I can type at all.* ☺  

Most of you probably remember how this goes from me doing it last year, but for those of you who are new to Tissue Tales: In honor of Marfan Syndrome awareness month I’ll be posting one Marfact each day in the hopes of helping to raise awareness. All facts – unless otherwise stated – have been provided by the wonderful Marfan Foundation.

For anyone who would like to help raise awareness, the MF has also put together a really handy social media toolkit that you can find by clicking here. The toolkit has ready-to-use tweets, email signatures, and more.

So, without further ado – and before I can’t even prop my eyelids open with my fingers – here’s today’s Marfan-related fact:

Marfact #3: Without a diagnosis and treatment, people with Marfan syndrome and related disorders are at risk of a sudden early death. But with an early diagnosis and treatment, they can live a normal lifespan.

Visit www.marfan.org for more information.

Have heart for Marfan Syndrome!

Hopefully tomorrow, once I’ve gotten some sleep, I’ll be able to update on how my doctor appointment this morning went.

For now, thanks for sticking around to learn more about MFS and how it effects me!

Much love ♥

-Katie

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.

Finger ring splints

I’ve been having some problems with my fingers the past few months, particularly the middle and index fingers. They hurt quite a bit at the mid knuckles and have been hindering my ability to draw and type. They’ve also been popping a lot.

I keep coming across these finger ring splints on the internet, usually by other people with connective tissue disorders talking about them. There are various benefits of wearing them, depending on your particular problem and the type of splint you get. My fingers tend to hyper-extend when I try to straighten them or put pressure on them (the middle and index are the worst). The type of splint I wanted to try is called the swan neck splint and it prevents the fingers from bending backwards when I try to straighten them.    

The splints sound awesome, but they are fairly expensive (anywhere from 30$-80$ for each finger, plus shipping, depending who you order from) and it can take weeks after ordering them before you get them. So, instead of paying for something I wasn’t sure would even work I decided to make my own (out of key rings) and voila!

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I was able to get them to fit comfortably and do their job without paying a dime. I’ve been wearing them for days now and they’re working well.

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The above picture is my finger without the splint. You can see how it hyper-extends backwards when I straighten it. It bends even farther if any pressure is added.

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You can see in this picture that it prevents my fingers from hyper-extending at all in the middle joint. I still have pain in my fingers but I wasn’t expecting it to go away with the splints. I just hope that they’ll help prevent some future wear and tear.

There are a few different places that you can order the splints from, they vary in price but like I said, they are fairly expensive. I’ll probably invest in some in the future but for now the homemade ones will do just fine.

Lung issues and more spinal problems.

A few days ago we received the medical records/results of my recent specialist appointments and tests in Vancouver – they weren’t exactly what I had hoped.

The X-ray showing my mid and upper spine shows vertebrae wedging (compression of the vertabrae caused by degeneration) along with Spondylosis (degenerative osteoarthritis of the joints between the centre of the spinal vertebrae and/or neural foraminae). This was a bit hard to digest because we knew that my lower spine had some degenerative problems (large synovial cyst, uncommon in those under 65, very rare in those under 40) but thought that was the extent of my spinal problems. I wasn’t expecting to hear that my mid spine looks like that of a middle aged person already too. My lower back’s been hurting me more than anything these past few months and it’s been continually getting worse. It hurts up higher too but not very much, hopefully it’ll stay that way for a long time yet. 

I was more taken aback by what they found in my lungs. The bases of both of my lungs have atelectasis which is: the incomplete expansion or collapse of parts of or a whole lung. Collapsed lungs and pneumothorax are known to be more common in tissue disorders than in the general population, but I had no idea that there was anything wrong with mine.

Overall I’m oddly calm about the whole business. I took in the results, took some deep breaths and accepted it. It’s kind of sad to say but this is what waits for me. My condition is degenerative and it’ll only deteriorate over time. More and more things will start to show up on tests, more joints will dislocate, I’ll be in more pain. I know this and for the most part I’ve made peace with it. I have my moments of despair, but this is the way that things are and I have to learn to find happiness despite it.

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Yearly heart checkup.

I know it’s been a terribly long time since I’ve done a proper post! I’ve got a few updates. My mom and I recently made the annual 9 hour trip to Vancouver for my cardio checkup. This year we went to St. Paul’s Hospital to meet my new “adult” cardiologist.

The bus ride was pretty painful. We take the health bus (it’s only 40$ each way which is a huge financial help). Though it may be a health bus but it’s terribly uncomfortable. My tailbone dislocated towards the end of the trip so by the time we got there I was about at my limit and super happy it was over.

Appointment day was pretty rough too. We started at 8:30 in the morning with my echocardiogram which is always a bit painful because of my rib problems. Next was my chest x-ray at 10 and my chest CT at 10:30 (so much radiation!!). We ended up waiting for over two hours for that and missed my ECG appointment altogether (they said not to leave for it because the CT was more important). They finally got my IV in for the contrast dye and I thought we were ready to go but then we had to wait some more.

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Finally we just had to tell them I was supposed to meet my cardiologist in a few minutes so we had to get the CT done. We met with a nurse who asked us some questions and then we met with a resident doctor who asked a few more and listened to my heart. Then we finally met my cardiologist. The news was wonderful; my aorta hasn’t grown anymore since last year! She also said it would be okay for me to stop taking my beta blockers which I must say made me quite happy! We only spoke to the doc for a few minutes in total. Generally she seemed likable but I still have such a hard time trusting doctors after all of the times they’ve failed me.

I requested all of the records of the appointment – it’s been recommended that I start doing that at every appointment from now on. So that if need be I can send them to an EDS-MFS knowledgeable specialist or take them with me in an ER situation. In the end we didn’t get back to the hotel room until 3:30 pm. It was a hectic day of running around and being poked and prodded.

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I enjoy our little stays in the big city (once I get over my home sickness, which I’m really bad for the first bit). I like the isolation of being disconnected from our usual boring lives and not having a computer or all of my possessions. It’s kind of like a little break from reality (aside from the medical appointments). We don’t generally do much when we’re there because neither of us ever feel too good. Shopping and sightseeing is no fun when you’re body is screaming at you so apart from walking to the grocery store for the necessities we don’t go out a whole lot. We’ve been going there for appointments since I was four so it’s kind of like a second home and it’s not too exciting anymore.

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This is my little workshop setup in our Easter Seal room. I spent most of my free time in Van sitting here drawing. How adventurous am I?!

All of that aside there’s a little art store call ArtRyan next to the grocery store. I have to go there when we’re in the city, it’s my kryptonite. We don’t have an art store where I live so it’s like heaven. It’s the only place I can get good, reasonably priced supplies. And it’s a small locally owned business. The owner is a very kind man who himself is an artist with a studio in back. He gives me good tips and advice on the things I’m looking for and he really knows his stuff. It’s nice when you do spend money knowing it’s supporting someone like that.

The bus ride home was particularly rough. It’s been a week and I’m still sore from it. But hey, I’m back home now with good news, a nasty IV bruise and some awesome, much needed art supplies. Apart from that it’s like we never left!

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