Marfact #5 + My heart health.

First off I want to give sincere thanks to the amazing Benjamin Prewitt and Sonda’s MCS Chatter for kindly re-posting Marfacts on their blogs! Thank you both so much for helping spread the word!

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #5: The life‐threatening part of Marfan syndrome is it’s effect on the aorta, the large blood vessel that takes blood away from the heart. In affected people, it can enlarge, leading to a tear or rupture. With monitoring and treatment, this does not have to happen!

Visit www.marfan.org for more information.

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I was 17 years old when my cardiologist at BC Children’s Hospital sat my mom and I down and told us that my aorta was starting to enlarge. It was a hard thing to hear. This wasn’t my first echocardiogram; I’d been having them once a year, every year – as recommended – since I was diagnosed, in order to monitor the size of my aorta. Every year everything looked normal, and so that’s what we came to expect. I was never worried in the minutes between having completed the echo and getting the results, not even in the slightest.

Even though that’s a major feature of Marfan Syndrome – enlarged aorta – I always just had this feeling that it wasn’t going to happen to me. And that feeling grew after every normal echo, enough that I kind of felt invincible in regards to my heart and aorta. I felt even safer about it due to the fact that I was more of an atypical case of Marfan Syndrome to begin with. It was a nice feeling too, when so much of the rest of my body was continually breaking down or falling apart *I’m talking to you, eyes!*.

Needless to say that this sit-down conversation with my cardiologist was sufficient in bursting my bubble of aortic invincibility. The news wasn’t devastating so much, considering that overall my heart was still doing really well, but it was another manifestation of my disorder and it’s growing impact on my body and that’s never easy to swallow.

Three years later and though I’ve now been diagnosed with mitral valve prolapse, my aorta is doing really well. It hasn’t grown anymore since that initial change and the current measurements show that it’s still only slightly enlarged. Considering what some people with Marfan Syndrome have been through with their cardiovascular systems I count myself very lucky in that regard.

I don’t think of my annual echos as quite such a non-issue anymore, and every so often I give a worried thought to how things are going to look at my next cardiologist appointment, but mostly I try my best to just take things as they come and not dread or dwell on the “what ifs” of it. Marfan Syndrome can be a pretty terrifying thing if you’re looking at it through the potential worst case scenarios, but then again, life’s like that too. :)

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!

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.

Knowing is Everything

I keep coming across a story that’s been floating around on the internet, about a 15 year old boy named Jacob, who died of massive internal bleeding caused by a ruptured dissection. Jacob was taken to the hospital – 4 days prior to his death – because of severe chest pains and a black swelling on his neck. Staff at the Wharfedale Hospital were so concerened that they sent him by ambulance to Leeds General Infirmary – the largest teaching hospital in England – suspecting that he had a bleed in his chest. Once there though, he waited 3 hours to be seen, despite phone calls to the hospital warning of his arrival. When he was seen he was told that he had a chest infection and was sent home with painkillers by a junior doctor without further medical review. 4 days later Jacob passed away.

There are so many things wrong with this story. Why would you make a 15 year old with suspected chest bleeding wait for three hours just to be seen – by a junior staffer none the less. And yes, knowing he had Marfan Syndrome could’ve likely made a huge difference, but there are so many things the doctors could’ve done differently that may have also saved his life. For one, why didn’t they check the blood pressure in both of his arms? Such a simple step. It should’ve been determined with 100% certainty that there was no bleeding, how hard can that be, when this boy’s life had depended on it. Why was a guarantee of his survival not worth a quick imaging study of the chest? 

It’s a sad and sober reminder of just how critical it is to be diagnosed with Marfan Syndrome at an early age and how important it is to raise awareness to not only those who may have the disorder themselves, but those who are responsible for treating us. If we keep talking about it, writing about it and spreading the word, then maybe one day the world will know what Marfan Syndrome looks like and tragedies like this one will cease.

I remember one of the last times I ended up in the emergency room, not one nurse there knew what MFS was, they had to look it up on the computer. I do live in a small town, but there is a chance that one day I’ll end up there at a critical moment and them knowing about my disorder could make all the difference. I always carry an emergency alert card in my wallet wherever I go, should I ever need emergency care and be unconscious and unable to tell them myself. I recommend you check out The Marfan Foundation’s tool kit or get a medical bracelet to alert potential doctors of your disorder.

I was lucky. I knew about Marfan Syndrome from an early age because of my dislocated lenses. Even when they falsely told me that I didn’t have it at 4, I was still aware of my early experience with the word throughout my life. If I hadn’t known what it was later on when unsettling symptoms began to arise, then I would’ve continued to play basketball and volleyball well into my life without giving a thought to it. I was lucky because I had the chance to find out for sure, before any real consequences arose. I’ve learned how important it is to rely on yourself and your instincts, how the word doctor is just a title and that you can’t put too much faith in a title. It was me and my family who had the sense to suspect that I did in fact have Marfan Syndrome despite what I had been told indefinitely so many years ago. Then we learned that the disorder can’t be ruled out at such a young age. A few years after we started exploring the possibilities my aorta started to dilate, and I shutter to think about what could’ve happened had we not taken my care into our own hands and into the hands of a new group of trustworthy professionals.

[Any medical terms and/or definitions featured on this blog have been thoroughly researched by me as to not lead to any false consumption of information by the reader. Though, that aside; I am not a doctor and the medical information on this site should not be taken as a substitute for the advice of medical professionals. If you’re experiencing any health issues don’t hesitate to contact your doctor.]

Marfan Syndrome Clinical Study

During my cardiologist appointment at Children’s Hospital the doctor asked me if I’d like to participate in a clinical study they’re conducting. The title of the study is: Cellular mechanisms underlying vascular dysfunction and aortic aneurysm in Marfan Syndrome. It  involves testing the blood of various people who are either affected with Marfan Syndrome or Loeys-Dietz. By doing this they’re trying to identify potential chemical markers in the blood and tissue that can be used to diagnose and treat MFS earlier than we can now. This study is part of a larger study designed to better understand how the aorta is damaged in patients with MFS.

They’re asking for anyone between the ages of 8-60 who meet the diagnostic criteria for MFS or LDS and would like to participate. The entire thing would involve being measured, weighed and having your blood pressure taken, followed by a physical examination and a detailed cardiovascular evaluation. Approximately 2 tablespoons of blood will be drawn, and an echo and ecg will be performed.

This is all taking place at the Children’s Hospital in Vancouver BC over the next 4 years. The entire thing should take about two hours.

I’m going to participate, so, I guess I haven’t officially said goodbye to the Children’s Hospital yet after all. I’ll be going back to Vancouver for my yearly echo and eye checkup next year and will likely be doing it then. I think it’s really interesting and I’m definitely eager to see the results. If anyone reading this who meets the criteria for MFS or LDS is also interested in being involved in the study just email me at katie.robertson@live.ca and I’ll give you the information you need.

My Vancouver Trip: Heart & Eye Updates

I’m back from our little Vancouver trip. 4 days later and I’m still very lacking in sleep. Last night I was lucky if I got an entire 45 minutes before we were up and on the bus – which I also couldn’t sleep on. I attempted a nap a bit after we got back and wouldn’t you know it? That didn’t work either.

Anyways, despite what it may seem I’m not actually writing this post just to complain about my desperate need for sleep – though I’m not gonna lie, it’s nice to vent. I’m here to tell you how my eye and echo-cardiogram/cardiologist appointments went. My eye is still being a tad unsettling. I still have the “ring of doom” as I call it along the outside where I can see out of my lens a bit. But the ophthalmologist has no way of seeing whether or not the lens is about to dislocate so I’m still waiting it out. He lasered off the suture sticking out of my eye, which I have to tell you was highly unpleasant but luckily fairly quick. For one, there was a mix-up and they forgot to freeze my eye, which isn’t too big of a deal because last time my eye wouldn’t hardly freeze anyways. It felt like someone literally burning my eye, which is what was practically being done. The bouts of one laser weren’t too bad – though not enjoyable – it was when he would do shots of three in a row that became pretty painful. It’s still a bit sore but no worse now than when the stitch was rubbing and it should be healed in no time. So, I’m glad that’s all done, it’s a relief to have it dealt with.

Then there was my last *tear* official appointment at the Children’s Hospital before I age out. It was nostalgic, 14 years later, to be saying goodbye to such a familiar place. I’m so grateful to everyone there who’s been so integral in the journey I’ve been on with my disorder. The woman who did my echo was a real peach – sarcasm implied. She was very nosy and judgmental about anything having to do with my life and my dealings with pain and health issues. Her entire demeanor oozed judgement and shallowness. I’m always astounded at people who cast their ignorant opinions on my life with so little understanding or compassion when in all honesty I probably suffer through more in one month than she has in her entire lifetime. Anyways, I couldn’t understand why she kept asking me so many personal questions just so she could belittle me when I answered. I should’ve stood up for myself or put her in her place but confrontation doesn’t come naturally to me and she caught me a bit off guard. Plus I just wanted to finish without making it more awkward than it already had gotten. Note to you echo lady: if you can’t behave better than that you have no business working in a Children’s Hospital with children who have or may have heart problems!

Okay, sorry, I’m done my rant. The results of my echo were alright. I now have mitral valve prolapse with slight mitral valve regurgitaion, which doesn’t surprise me. For those of you who don’t know, in simple terms MVP is when the mitral valve of the heart doesn’t quite close all of the way when pumping out blood, thus potentially allowing blood to flow from the left ventricle back into the left atrium of the heart.

We spent the majority of the 3 hour appointment going through my various Marfan-like features with the cardiologist as well as whether or not I should begin beta blockers soon to potentially slow the rate at which my aorta dilates. A nurse in the building who specializes in various connective tissue disorders like MFS and ehlers-danlos was also kind enough to participate in the appointment on her own free time. They went over the ghent criteria (criteria for being diagnosed with Marfan Syndrome) one by one checking which points apply to me. The end result said that taking the major feature of my aorta dilation along with many of my minor features it would appear that I meet the criteria for a Marfan diagnosis even without counting the major feature of my dislocated lenses. Both of them also said that they personally think that my tissue disorder is in fact specifically Marfan Syndrome. It was nice to finally have a proffessional involved in my care acknowledge the fact that I meet the ghent criteria.

As for whether or not I should begin beta blockers the doc said it’s entirely up to me at this point. He said that they can’t keep the aorta dilation from growing, they can only potentially slow it down perhaps pushing back the need for surgery farther than without. But, he also said many people have a very hard time on them and knowing my history with all medications, I can only assume that’ll more than likely include me too. So, basically my options as of right now are: start taking beta blockers and hope that I can put off surgery for a longer amount of time and live with whatever unpleasant effects they may have on me, or, live life normally (not recklessly, mind you), monitoring my aorta as usual (I’d have to do that either way) and when I’m in more of a danger area in regards to aorta root size consider beta blockers then. At the size my aorta is right now the risk of dissection is very low, though, not non existent. For now I’m going to stay off of the beta blockers. If, in a few years time, things start changing faster then I’ll reconsider. For now I’ll just continue to be careful and follow the appropriate safety guidelines. This is an entirely personal decision. If my cardiologist had said “I think you need to be on beta blockers” then of course I would take them, but, things are stable right now and I’m going to enjoy that while it lasts.

I know this has been a long post and I’m glad that I haven’t lost you yet. This is the last of my updates. Since my cardiologist doesn’t see patients above the age of 18 and he made very clear that he’s not comfortable leaving me in the care of anyone who isn’t highly familiar with the effect of tissue disorders on the heart, he is referring me to another specialized hospital in Vancouver for my yearly echo. And I thought my annual Vancouver trips would be history after this! That’s okay though, I’m really glad that I won’t have to leave such an important part of my care to someone who doesn’t know all of the ins and outs of Marfan Syndrome. It’s a relief to know that he wouldn’t just let me fall off of the map after this. He’s been a good doctor throughout the years and I’ll always be grateful for the care that I’ve received as his patient. So, thank you a million doctor S!

[Any medical terms and/or definitions featured on this blog have been thoroughly researched by me as to not lead to any false consumption of information by the reader. Though, that aside; I am not a doctor and the medical information on this site should not be taken as a substitute for the advice of medical professionals. If you’re experiencing any health issues don’t hesitate to contact your doctor.]

17 Years Old: Aortic Root Dilation

Throughout this entire journey, through all of the eye surgeries, unexplained health problems and pain, I still held out hope that maybe this was all a coincidence. Maybe I wouldn’t be in pain forever and they’d find something wrong with me other than a Connective Tissue Disorder…something curable. I know that I have a lot of the symptoms of one and that this would explain things nothing else could, and I think that deep down I knew that this was unavoidably my reality, but like I said; I still had hope.
 
A lot of people know that the biggest worry with some of the CTDs like Marfan Syndrome is the problems they can cause with your heart (and if you didn’t know now you do!). Since they know with 100% certainty I have one of these disorders they have kept a close watch on my heart to make sure that it hasn’t begun to be affected. The main concern is dilation of the aorta. This is when the wall of your aorta (your body’s largest artery) begins to weaken and stretch. This is dangerous because the more dilated your aorta becomes the higher risk you’re at for an aortic dissection, often referred to as an ER staff’s nightmare. An aortic dissection is a potentially fatal medical emergency resulting from a tear in the inner wall of the aorta which allows blood to flow between the layers of the wall of the aorta and force them apart. If the blood tears through all of the aortic walls massive blood loss will occur and the chance of survival becomes slim. Some people may remember John Ritter’s death a few years back as the result of an aortic dissection. That is why diagnosis and proper observation is vital for those with Marfan Syndrome and similar disorders. Though it is still possible those of us who are being monitored will more likely never have to face aortic dissection. Once your aorta is dilated to the point where it may become dangerous open heart surgery to replace the damaged portion is performed. Some famous figures have undergone the same type of surgery (but for other reasons), such as Barbara Walters, Robin Williams, Bill Clinton and David Letterman.
 
I’ve undergone an echocardiogram once every year since I was diagnosed with a tissue disorder to measure my aorta. It is like having an ultrasound on your heart. I am never nervous because for some reason or other -in that department- I’ve always sort of felt invincible and could never imagine the results coming back any other way than fine. I had never even thought for a second something would show up. But I was pulled back into reality last fall when my echo did in fact show that my aorta had become slightly dilated. This is no immediate concern, but it painfully shattered my denial and smacked me into reality -so to speak. I couldn’t look at my mom while we were receiving the results. I knew one look at her reaction and I wouldn’t be able to keep myself composed long enough to get the important information that I’d need and want to know. A few times while the meaning of the results was being explained to us I had zoned out. I wanted to be outside where I could scream. It felt so odd to get such personal, life altering news while confined to a room with a practical stranger. I kept thinking about my mom and how I had to be strong because I knew this news would hurt her more than me. The things I had the hardest time with was knowing that like I said; I wasn’t invincible and the fact that I might one day need heart surgery (which I should mention has a very high success rate), but regardless it is still open heart surgery. Those are some terrifying words when uttered in regards to your future treatment. I will also need to be placed on beta blockers or Losartan at some point to hopefully slow the rate at which my aorta does weaken and dilate. This will slow my body down and take some of the stress off of the artery.
 
As of now I still have a few months left before my next echo and before they will put me on one of those medications. I haven’t been fretting the next echo. I choose not to think of whether or not it will be even more dilated. I just know that for now it is only slight and I should enjoy that for as long as I can. Sometimes the aorta will stay on the outer limits of normal, or in otherwords it will become slightly dilated but never really progress further. And there are enough things ahead of me to worry about when I come to them, so for now I will try to focus on the positive. Though, at times it does sink in, for now I am living as if I had never received this news. My next appointment will arrive soon enough so until then I will pretend all is well. I’m not in denial, I’m just coping. And I think this is a positive way to do so. 
The diagram to the left is one I edited based on my cardiologist’s description of aortic root dilation. He drew where the widened part of my aorta was (in my case the root) and how it would look compared to a normal person’s. The measurement in centimetres are just to give a basic idea of the average root size and the size of one that would be considered dilated. However the size of your aorta is based on height, age, weight etc so what would be dilated to one person may not be to another. All of this is taken into consideration and calculated when measuring the aorta to help determine whether it is a healthy size or not. Mine is just outside of the average limits which is why I say it’s slightly dilated. At the moment it is 3.8cm which is larger than it should be for someone my age height and weight. Usually an aorta is not operated on until it’s 5cm-5.5cm, although it’s becoming more common to have the operation at 4.5cm to reduce the chance of dissection and aneurysm. Either way it would seem I have quite a while before I have to worry about that, depending on if and how quickly my aorta continues to expand. The speed at which it does so is unpredictable so like I said before; I try not to think about it. It isn’t the end of the world, though at first it felt like it. But I have come to accept that this will be a part of my future. 
 
{I am not a doctor and the medical definitions and descriptions featured in this blog post do not and should not replace those of a medical professional. They are merely there to help give an idea of my situation and experiences.}