Marfact #28!

In honor of Marfan Awareness month here’s Marfact #28 – the last of the month! – (courtesy of the wonderful Marfmom):

Do you know the signs of pneumothorax and how to treat it? A pneumothorax is “a collection of air or gas in the space between the lungs and the chest that “collapses” the lung and prevents it from inflating completely.” It’s an emergency situation, although usually not life-threatening. http://marfan.org/marfan/2444/Lung-Emergencies/

More information about Marfan syndrome and related disorders is available from the National Marfan Foundation, www.marfan.org or 800‐8‐MARFAN.

Thank you all so much for the support you’ve shown this MFS awareness month. This is a cause so close to my heart and it’s so important that we spread the word. 50% of people don’t know they have MFS and when un-diagnosed it can very likely end in a fatal aortic dissection or rupture – a largely preventable outcome. Know the signs – save a life!

Have Heart for Marfan Sydrome!

February is Marfan Syndrome awareness month! In order to raise awareness I’ll be posting a Marfact a day – provided by the wonderful NMF. I absolutely love looking at the profile pictures and status’ of the Marfamily on Facebook. We’re all so intent on getting the word out. Marfan Syndrome is not an extremely rare disorder; 1 in 5,000 is actually a pretty big number. But it’s estimated that half of those people don’t know that they have it. And, when MFS goes un-diagnosed you’re at risk for a sudden, early death. That’s why it’s so important that we spread the word; knowing the symptoms really could save a life.

The NMF has provided anyone willing to spread awareness about this disorder a toolkit full of pre-made Facebook Statuses, tweets, the marfacts that I’ll be posting, etc. All you have to do is click this link and voila!

I’d love it if any of my blogger friends would be willing to do a short post on MFS. I can even do the writing or you can just copy and paste from the toolkit.

Since I missed yesterday’s fact I’ll post 2 today.

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.

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.  

To learn more visit: marfan.org

The wonderful photo you see above was made by one of our Marfamily members Karen Mackie-Dumont. Feel free to share. Thanks Karen!

The fear that follows.

Generally, I try not to read too much information when it comes to aortic dissection in Marfan Syndrome. It scares me too much because it reminds me that it does happen and that it can be fatal, and I don’t want to die. I know that the odds are generally in my favor, it’s not like having MFS is a death sentence anymore but I’ve heard some very real horror stories and I don’t live in a good area with a hospital that could quickly save my life in such a case. When I read about the life saving surgery and the fact that it can leave one paralyzed, or that it can cause heart attack or stroke, I can’t help but be terrified and feel reminded that survival life is never a given.

I also have a hard time entrusting something as important as my life to another person (doctors). There’s always a fear and a possibility that mistakes are being made in one’s care, after all, they are only human and there’s good and bad ones in the medical community just like everywhere else.

The reason that this is on my mind is because I’m considering going off of the beta blockers. I would think that it’s okay because it was my own initiative that got me on them in the first place (my heart rate was becoming increasingly high, not good for someone with MFS, beta blockers slow the heart down) but I’m trying to do all of the research that I can before making that decision. I’ve been on them for a little over 4(?) months now and I think that they’re the cause of my unbearable exhaustion and sleepiness. I have to nap multiple times a day now, sometimes even only 30 minutes or so after waking up in the first place. When I’m not sleeping I seriously wish that I was. The odd thing is that I still get insomnia a lot. I’ll be so tired that I can’t keep my eyes open during the day but when I do try to sleep I still can’t a lot of the time. My exercise tolerance has also decreased in a huge way. Getting my heart rate up to 100 takes as much effort now as getting it up to 160+ did before. In the end I guess that doesn’t really matter, I’m supposed to keep it 100 and under when exercising anyways to protect my heart. It’s kind of depressing but necessary. 

Since starting them sometimes I’ve caught my resting heart rate as low as 48. I haven’t panicked about it or gone to the hospital. mostly because usually when that happens I don’t feel much worse than compared to usual. Generally my pulse has been at around the mid to low 60s, sometimes the high 50s. 

Anyways, I’m nervous that were I to go off of them that it would be a huge and possibly dangerous mistake. I’d feel better about it if my next echocardiogram/cardiologist appointment wasn’t so far away still (April). From what I do know, with my aortic root size, it should be fine (as long as my resting heart rate doesn’t go back to being way too high), but I need to be sure. Talking to my gp about it seems pointless because she knows less than I do about the subject, she even forgot why we decided to start them in the first place (she thought it was high blood pressure when mine’s always been low), I could call the cardiologist but I haven’t met him yet (he’s my new adult one instead of my children’s hospital one) so I don’t know if he could make an accurate decision before our appointment.

If anyone has an opinion or more information on this subject I’d be happy to hear what you have to say, if you’d like to email me at katie.robertson@live.ca or comment here I’d really appreciate it!

Head full of doubt, road full of promise.

I’ve been drawing again lately, for the first time in a long time. I used to do it in some capacity every day, just as I would write poetry often. But, the neck and head position required by drawing would aggravate my headaches to a degree that I couldn’t take anymore. The same thing would happen with my rib pain from the sitting position. This has been another bitter blow that pain has dealt me. The list of hobbies and activities that don’t make the pain worse is dwindling down to nothing. But that’s just it; I can’t let the pain take away everything that makes me happy. And when I truly think about it, why should I? I’m in pain anyways, whatever I do. So, I might as well be doing the things that I love and finding some happiness in the process. And I’m not saying that I’m going to pick up all of my old hobbies – like basketball and volleyball. I know that doing those things aren’t an option – pain-wise and Marfan-wise.

Moderation is the most important factor that I’ve found in containing the pain to a bearable degree. I draw for about 20 minutes, take a break and then when my neck and ribs feel a bit better I pick it up again for another 20 minutes. This doesn’t fix the problem entirely but it helps. I try not to do it for more than an hour a day, sometimes though, I break that rule – and pay for it. It’s given my attitude a bit of an uplift. It’s silly but I feel like I’m taking something back from my condition, like I’m not letting it get the better of me for once. Looking at it solely that way, like I’ve somehow won this one battle, makes me feel a bit better about my current circumstances. 

I’ve been sleeping, a lot because of the beta blockers. And when I’m not sleeping I’m either trying to or wishing that I was. I’ve spent about 42 of the last 48 hours asleep. Impressive for an insomniac. I think my days of being up all night may be behind me – although, the beta blockers do list insomnia as a common side effect so I guess I’ll see. That’s not very nice; that they can make you super tired but also make it so you can’t sleep.

Now for a coincidence – my mom was just prescribed the exact same beta blocker (Propranolol) as me – only for headaches and not her heart. I was disappointed because my headaches haven’t gotten any better since starting it but I read something online that said it may take 4 to 6 weeks after getting to the appropriate dose (mine may not be high enough) before you notice a change in your headaches. I really hope that’s the reason, but not as much as I hope that it helps my mom’s headaches. It’s been 12 years now since the initial headache started. She had that one all day every day until a couple of years ago. She still gets it at least once a day but it has mellowed a bit.

During the first couple years of having the headache she was scared that she was going to drop dead at any moment – the pain was so severe that she was sure there was something very wrong. I was shocked to learn that no scans or tests had ever been done to make sure that there wasn’t. Her doctors had never thought it necessary, no one (medical professionals) did anything to help her. I’ve watched my mom suffer with this for a long time now. I’ve seen that look in her eyes that only someone in a lot of pain has, everyday for the past 12 years. I didn’t understand it when I was younger; why she stopped going out as much and being able to attend as many of my school events as she used to. I was 7 when this started, and how it feels to live in chronic pain is something most adults can’t even comprehend. I often thought it was something that I had done, like I was in trouble or that she was just being mean when she said no to things. Now regrettably I know how much harder those things were on her than me, especially if she knew that it was making me unhappy. I seriously hope that I kept that to myself and didn’t hurt her more with it.

Soon the chronic headaches turned into widespread chronic pain, and eventually she was diagnosed with fibromyalgia. A diagnosis that we still don’t know whether to believe is correct or was just handed to her by doctors too lazy to find the real answer. And I 100% believe that fibromyalgia is a real condition so don’t get me wrong on that. I just wonder if because it covers so many symptoms if they just stuck my mom with that diagnosis instead of putting in the effort to find another cause. Or if the original cause of the headaches remaining untreated did in fact morph into fibro and start causing the widespread pain – since we know that many cases of FM stem from acute injuries not being diagnosed and properly managed. Either way, she’s suffered and continues to. I would do anything to give her a body that doesn’t hurt, to let her live her life again instead of just surviving it.

If the Propranolol helps my mom’s headaches that would be the first step forward in her illness in 12 years. It wouldn’t fix everything but it would fix something. 

“There was a dream and one day I could see it.
Like a bird in a cage I broke in and demanded that somebody free it.
And there was a kid with a head full of doubt,
So I’ll scream ’til I die and the last of those bad thoughts are finally out.”
- Head Full of Doubt, Road Full of Promise by The Avett Brothers

Seeing things?

This may sound odd and it could be very improbable but I’m just relaying exactly what I feel, and what I feel is: my body seems to go through phases where the tissue is weaker than other times. Like for instance, sometimes many of my joints will continuously subluxate at the same time more often for a while and then go back to “normal”. My pain level also rises in the same areas, not even only after the subluxation but before too. Like today, my tail bone is out again (it’s been doing this for as long as I can remember and I think I can place the initial injury that weakened the tissue back to when I was 5 and dropped down on a bicycle extremely hard, I remember only because it hurt so bad), my shoulder is continuously grinding and popping in and out, as well as my hips. I’ve only been awake for about an hour but I wouldn’t be surprised if my ribs and throat or jaw joined in as well. I had an awful headache all through the night and my left hip was aching the entire time I was in bed making for a not so restful sleep (my mattress is also extremely worn down and hard on my body, spine especially).

Another new development; I had a visual hallucination last night. Something I’ve never experienced before. I had been tossing and turning and only sort of half sleeping, when I woke up to see my red heart shaped pillow floating up in the air around my room. The more I looked and processed the more my mind tried to make sense of what I was truly seeing, while searching with my hand for the switch to my lamp. I had wondered if it was my garbage bag (hot pink) being blown up and around by my fan because a floating pillow is obviously impossible. When I finally did find my lamp switch and flooded the room with light there was nothing in the air. My pillow and garbage bag were in their rightful places and I was left shaken, blinking and staring up at nothing at all. I felt so awake, but the more probable solution to such a thing would be that I was not entirely so…right? But I was seeing clearly and thinking clearly. There was plenty of time before I switched the light on for me to stare at what I was (or thought I was) seeing. 

I hadn’t taken any sleeping or pain medication in the last 24 hours. The only thing in my system was my beta blockers and the natural hormone melatonin that I’ve taken 1000 times before. I’ve been trying to come up with possible explanations to the hallucination and though I feel so sure that I was fully awake and that was not the cause, it’s the most realistic reason that I can come up with. After all, people don’t just hallucinate floating objects for no reason. It was light enough in my room with the setting sun that I saw what I “saw” clearly. Whatever the cause, it definitely gave me a bit of a fright once I realized there was nothing there. I lay there thinking about it for a long time before getting up and checking on my mom (just in case it was a “sign”) and finally deciding to try sleeping again. I thought of telling her at the time when she asked me what was keeping me up but I figured it would sound even crazier out loud than it did in my head. 

Anyways, there’s your dose of strange for the day, and it’s only 7:00 am! I’ll probably be going back for a nap at some point today, the longer I sit here writing this the sooner I think that I’ll be doing that. The beta blockers like to make me super tired and at the same time make trying to sleep hard work. Oh, and I think there may be many grammatical and punctual errors in this post because of sleepiness, a headache and a general unwell feeling. Thank goodness for spell check though, at times like these I’d be so much worse off without it.

An update of sorts.

First of all, I want to extend my thoughts and prayers to everyone and anyone affected by the theater shooting that occurred last night. I am so sickened and saddened that this happened. I can’t even fathom what the victims and their families were and are going through, but from the depths of my heart and soul; I wish them well. It feels like a sad day to be human, when reminded that our species is capable of such senseless horror and cruelty. May those who were injured make speedy recoveries with as little added suffering as possible and those who were lost find peace.

Now, I realize that I haven’t been blogging about any medical related things in these last few posts. Mostly because nothing too interesting has been happening.

My shoulder did dislocate for the first time the other day. Well, actually, my guess would be that it was more of a subluxation than a full dislocation, but painful none the less. And disheartening. Another reminder that my tissue is weakening and that things will and are only going to get worse with time. To make things even more pleasant, a couple of my ribs decided to also subluxate today. They popped back into place fairly quickly but as you can imagine, the surrounding tissue and what not are going to take a while to heal. Sadly, I’m becoming very used to this. It seems like every time I finally heal from the last subluxation another one occurs. I kept my arm in a sling for the first little while after the shoulder incident but it seems unnecessary now, it doesn’t seem to be helping as much.

I recently ordered an orthopedic corset off of the internet for the purpose of compressing my ribs and hopefully keeping the lower ones in place. I got the idea because when my ribs are moving around it always helps to hold my arm down against them. The sizing got messed up on the first order so I’m just waiting to get this one and try it out before I give my review on it. I’m really hoping that it does something.

In other events, I’ve been avoiding my doctor like the plague. Not for any specific reason really, only that I’m just tired of doctors. And I’m also still contemplating what to do about my beta blocker situation and I need to decide on something before going in. I finally made an appointment for next Friday so I really need to make a decision.

Now I’m going to be super cliche and talk about the weather. Mostly only because we’ve had more thunderstorms in the last couple weeks than I can remember having throughout my entire childhood. Which is awesome because I love lightning. Watching it at least. I love the rain too.

This picture was taken in my hometown where there’s been some flooding. Where the geese are is actually a road. It floods like this once a year, and every once in a while someone is silly enough to attempt to drive through it.

If It’s Meant To Be

There’s a debate I see in different places on the internet, about whether a person with a genetic disorder should – or even has the right to – have a child when there’s a chance that they too will suffer from the same disorder. In this case I’m speaking of Marfan Syndrome and similar disorders. Is it okay for someone with this disorder to risk passing it on to a child? And, as with any issue, there are a lot of very opinionated people, people who strongly and loudly object, saying that it’s selfish and wrong. And just to clarify, this is my opinion on this matter only in relation to Marfan Syndrome and similar disorders, not the many other genetic disorders in which I’m unqualified to have an educated opinion.

Now, my mom didn’t have the disorder, neither of my parents did. I received the defected gene that causes a tissue disorder via what’s known as “spontaneous mutation”. Meaning, the gene wasn’t inherited, it just mutated on it’s own. This is the case in approximately 1 out of 4 instances of MFS. But, had one of my parents had the disorder already and still chosen to risk it by having biological children here is what my stance is on the issue:

I suffer because of this disorder, I do. I’m always in pain, I’ve had 7 surgeries, I take many medications with many side effects. I worry, about my future, about my heart, about in what way this disorder is going to affect my body next. So yes, clearly, I struggle because of this disorder.

But the thing is, I am who I am because of this disorder and the things that suffering has taught me. I feel like this life has opened my eyes to things that I wouldn’t miss for the world. Things like compassion and understanding and passion. You need to be passionate about the things that you do have in your life, or the struggle wouldn’t be worth the reward those things give you. I’ve been given the ability and the need to fight in order to live and in the end living becomes something that holds so much more meaning because of it. And maybe I live a life that hands me days where all I’ve accomplished is not giving up, but I also live a life that’s been blessed with only the most amazing people to help me through it. I am happy to be here, no matter how much it hurts, no matter how often I question whether or not I can handle it anymore. So, if you asked me; had I seen this life – the good, the bad, the people, the tears, the love, the pain – and been given the choice, would I have chosen to be born to this life, to this disorder? Yes.

Had my mom known there was a chance that I would have this disorder, and decided that it wasn’t worth the risk then none of this would’ve happened. None of the laughter, none of the smiles, the heartbreak, the hugs, the lessons about life that only pain – physical or emotional – can teach you. No “Marfamily” to lean on and learn from, no words of strength from the other side of the world, from strangers in nature but family and dear loved ones in circumstance. And, maybe I’m crazy for it but I would not change those things.

There is suffering everywhere in the world, in numbers incomprehensible, and in ways unimaginable. I have a roof over my head, food in my stomach, a home, a family and yes, I happen to have Marfan Syndrome, I happen to be in pain. But it’s part of life, it’s part of my life. And one day, if my life should allow it, and I need to make a choice: to risk having a child with my disorder, or not, I know my decision. And I know that it’s the right one because no matter what that child may face because of it, they will face it with a love unwavering and unconditional, and a strength unlike any other. If it’s meant to be, it will be.

Dear Marfan

*I’m re-posting this with my name at the end as I’ve seen it being blogged and reblogged on many different sites by many different people – some who also suffer from Marfan Syndrome, some who have family members with chronic illness and some who themselves have other chronic illnesses. And, don’t get me wrong, that makes me unbelievably flattered and happy, that so many people can relate to my words, I just would like people to know that it was me who wrote it because I take pride in my writing. Thank you so much to all of the people spreading this around, it feels amazing to be heard when living with a pain that often makes me feel so alone.

Dear Marfan,

First thing’s first, I do not hate you. Sometimes I’d like to, for all of the people that you’ve taken from this world too soon, for all of the pain and heartache you so often cause. But, you are what has made me who I am today, and showed me strength that I never would’ve thought I had. So, I don’t hate you, but I am angry with you. I’m angry with you for trying so hard to make me hate my own body and for all of the things that you’ve taken away from me, all of the things that I’ve missed out on because of you. You were not supposed to be a part of my life. You were never part of the plan.

I’d like to ask you why you chose me, but in all honesty, that’s not as important to me anymore. I wouldn’t wish you on someone else instead. But I do wish you didn’t make me feel like a ticking time bomb. I wish that I never had to think about things like aortic dissection and emergency heart surgery, that I didn’t feel the need to have my affairs in order, “just in case”. I wish I didn’t have to wonder if you’d cause any future child of mine suffering, or if I’d lose my own life in the attempt to have one.

I wish you hadn’t taken my sports and many of my friends, and replaced them with medications and doctor appointments. You’re constantly reminding me that no part of my body is safe from your consequences and that it’s only a matter of time before something else goes wrong. You hurt me, day in and day out, standing or sitting, year after year, from head to toe. Because of you I talk more often to doctors than I do to people my own age.

I had dreams before I knew you. Now, I’m afraid to get excited for the future because I know, eventually, you’ll get in the way of it. You always do. As soon as I let myself want something, you give me a reason why I can’t have it. You’ve given me a body that is always telling me “no”. No, you can’t play basketball anymore, no, you can’t have a job, no, you can’t get your heart rate up, no, you can’t lift that. No.

These are all of the reasons that I’m angry with you, these are all of the reasons that you scare me. And honestly, it feels good to get them off of my chest. But, you haven’t been all bad. You’ve given me a chance to have this blog and to talk to and meet people that I never would’ve otherwise known. You’ve taught me a lot about the important things in life, like telling those you love that you love them, as often as possible. You’ve showed me the ignorance and cruel judgement of some, but you’ve also showed me the uncompromising kindness of others. You’ve taught me to be compassionate, and not judge others by their looks, because you never know what they’ve struggled through.

I wish that I could know a future without you in it. I wish that you hadn’t changed everything so much. But most of all, I wish that my body belonged to me, not you.

By Me, Katie Robertson

“A tragedy need not have blood and death; it’s enough that it all be filled with that majestic sadness that is the pleasure of tragedy.” – Jean Racine

Beta Blocker Decisions

I wrote here about my last cardiology appointment and how my doc left it up to me as to whether or not I wanted to start beta blockers now or later, saying that he couldn’t really recommend I go one way or the other. Now, for those of you who don’t know, beta blockers are used in cases of Marfan Syndrome, in order to lower the heart rate, therefore decreasing the amount of stress put on the aorta, with the objective being to postpone heart surgery longer and to make the chances of aortic dissection lower. At the time, because my aorta is still fairly stable and because beta blockers can cause many highly unpleasant side effects (which with my medication history, I’d be very likely to pick up) I made the decision to stay off of the beta blockers for now. This was not carelessly decided mind you, I did a lot of research and spent many hours discussing and contemplating my choice. And of course, I’ve often wondered if that was a reckless or stupid decision.

This was back a few months when on average my resting pulse was always in the 60s and my blood pressure usually around 110/70.  And while my blood pressure hasn’t changed at all, my heart rate certainly has. Now it’s usually 100, often spiking to and staying at 120 – which is the recommended maximum limit for those with MFS who are not on beta blockers. This is very odd for me, nothing’s changed in my eating and exercising habits, caffeine intake etc. But it has me worried that I should definitely be on the beta blockers now. I was thinking of giving it a few more days and continually checking both my heart rate and blood pressure on the at home monitor we have, to see if anything happens before making an appointment with my GP. But this has been going on for a few weeks now and it doesn’t seem ready to quit.

I wish my cardiologist lived closer, right now he’s 8 hours away. My GP is good but she doesn’t know MFS the way he does. I don’t want to be stupid with my life, but I also seriously don’t want to deal with the monstrous list of effects that beta blockers can have on you, like, for instance, zapping all of your energy and making you feel tired all of the time. And headaches, I certainly don’t need help getting those, I do just fine all on my own.  I’m really struggling already and don’t know if I could keep any more fight in me if it got any worse. And for some silly reason, I feel like being put on beta blockers would be a huge negative turning point – like another notch in my “look what Marfan Syndrome is doing to me” belt.

What to do?

Dear Marfan

I’m having a beef with Marfan Syndrome. Lately the reality of my disorder has been hitting me harder, and I’ve been struggling with it. I had originally written a very dark post but before publishing decided to instead save it and if I was still feeling that way then I would post it. For now, I’m keeping it unpublished, and am instead writing this:

Dear Marfan,

First thing’s first, I do not hate you. Sometimes I’d like to, for all of the people that you’ve taken from this world too soon, for all of the pain and heartache you so often cause. But, you are what has made me who I am today, and showed me strength that I never would’ve thought I had. So, I don’t hate you, but I am angry with you. I’m angry with you for trying so hard to make me hate my own body and for all of the things that you’ve taken away from me, all of the things that I’ve missed out on because of you. You were not supposed to be a part of my life. You were never part of the plan.

I’d like to ask you why you chose me, but in all honesty, that’s not as important to me anymore. I wouldn’t wish you on someone else instead. But I do wish you didn’t make me feel like a ticking time bomb. I wish that I never had to think about things like aortic dissection and emergency heart surgery, that I didn’t feel the need to have my affairs in order, “just in case”. I wish I didn’t have to wonder if you’d cause any future child of mine suffering, or if I’d lose my own life in the attempt to have one.

I wish you hadn’t taken my sports and many of my friends, and replaced them with medications and doctor appointments. You’re constantly reminding me that no part of my body is safe from your consequences and that it’s only a matter of time before something else goes wrong. You hurt me, day in and day out, standing or sitting, year after year, from head to toe. Because of you I talk more often to doctors than I do to people my own age.

I had dreams before I knew you. Now, I’m afraid to get excited for the future because I know, eventually, you’ll get in the way of it. You always do. As soon as I let myself want something, you give me a reason why I can’t have it. You’ve given me a body that is always telling me “no”. No, you can’t play basketball anymore, no, you can’t have a job, no, you can’t get your heart rate up, no, you can’t lift that. No.

These are all of the reasons that I’m angry with you, these are all of the reasons that you scare me. And honestly, it feels good to get them off of my chest. But, you haven’t been all bad. You’ve given me a chance to have this blog and to talk to and meet people that I never would’ve otherwise known. You’ve taught me a lot about the important things in life, like telling those you love that you love them, as often as possible. You’ve showed me the ignorance and cruel judgement of some, but you’ve also showed me the uncompromising kindness of others. You’ve taught me to be compassionate, and not judge others by their looks, because you never know what they’ve struggled through.

I wish that I could know a future without you in it. I wish that you hadn’t changed everything so much. But most of all, I wish that my body belonged to me, not you.

- Katie Robertson

“A tragedy need not have blood and death; it’s enough that it all be filled with that majestic sadness that is the pleasure of tragedy.” – Jean Racine