Eye and heart updates (again).

With everything that has been going on with my optic discs and brain lately, I never took the opportunity to write about the outcome of my cardiologist and ophthalmologist appointments from last March.

Wind blown.
My cardiologist appointment didn’t go as well as we’d hoped; my aorta had grown a bit since my last visit, which is never the greatest thing to hear, but it was also still quite stable overall. To get a better idea of how quickly it may or may not be progressing—and to maybe start me on treatment with Losartan if necessary—the cardiologist wanted to see me again in 6 months for an MRI. And, the MRI results showed that in those 6 months my aorta hadn’t grown any further, so for the time being it’s still safe to leave it be. I’m due for my next checkup in about 2 months, so we’ll see how things are looking now. I’m quite relieved at the results, and as far as I know my aorta is doing pretty well for someone my age with MFS, so, no complaints there.

As I’ve mentioned before on here (in “It’s hard to go through it again.” and “We always carry on, and sometimes it gets easier.“), the lens in my right eye suddenly shifted early one morning as I was getting out of bed. This was the third time that I’d experienced something like this with my lenses, so I was pretty certain I knew what was going on. It was somewhat devastating at the time because both times this had happened before, I would end up needing surgery soon after, and my vision would never be the same. But, thankfully it was (and is!) still hanging on because of some factors we weren’t aware of.

When we got to my ophthalmologist in Vancouver he told us that my lens was indeed holding on by one suture instead of two, which was why it had shifted and was now relatively (but not completely) loose. What we didn’t know was that during my last lens reattachment surgery, only one suture had come loose, so he only had to replace the one. We had always assumed both had been replaced. So now, the new suture is still stable and hanging on, but the original suture from my lens implant surgery—13 years ago—has finally let go. This can help account for why this lone suture has managed to hang on two years longer than last time—it’s relatively new and strong.

The trouble is, with only one suture holding all of that weight—in combination with the weak tissue from my disorder, trying to support it—we were told that it’s not a matter of if it fully dislocates again, but when. Sometimes it’s hard to sit here waiting for the other shoe to drop, not knowing when we’ll have to rush back to Van for yet another eye surgery and all of the difficulties that entails. But, I was already expecting another eye surgery, and having these extra years in between has been a gift, so the news wasn’t too bad.

My ophthalmologist was (and is) a bit concerned about some of the complications that a loose lens can cause regarding inflammation, hemorrhages and retinal swelling, so,— as long as the lens is hanging on—we’ll have to go back to Van every 6 months to check on all of those things. On a positive note, the lens in my right eye has had both of it’s sutures replaced, so it should be much more stable and less likely to subluxate like this one did, which is an incredible relief.

So, those are my—as per usual—long overdue eye and heart updates. I can’t believe it’s been nearly two years since everything with my lens kicked off. I’m so surprised and grateful that it’s still holding on.

Thanks for reading!
– Katie

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!

A new step: Beta blockers.

As I’d mentioned a few posts ago, I had a doctor appointment last Friday. I told my gp about the change in my heart rate, and we made the decision that it was time for me to start beta blocker treatment. In many ways this was a bitter step for me. It was an affirmation that there is something wrong with my heart, it’s reality. It’s a scary thing to think about. When I write and talk about the aspects and dangers of my disorder in regards to my heart there’s a certain technical feel to it, I feel like I’m just talking facts and medical jargon. It’s important to me that I switch of any emotions that might personalize what I’m saying because I feel stronger and safer that way – it helps me cope. But, there are certain moments and milestones that hit home hard for me. Being reminded three times a day when I take this pill that I may very well need heart surgery someday or that I’m at 100 times greater the risk of aortic dissection makes it that much harder to keep those thoughts out.

The beta blocker my doctor decided on is Propranolol. It is also prescribed to treat many different types of headaches so she was hoping that it may help mine. To start with I had been taking 40mg three times a day, equaling out to 120 mg, but my heart rate started to climb again, so we upped the dose to 60mg three times a day. They definitely do make me more tired and weak, some days being worse than others. They’ve also made my circulation and Raynaud’s syndrome worse, where my thumb and sometimes other fingers and toes turn dark purple and become freezing cold. I’ve been experiencing the vivid dreams that can come with this particular beta blocker, but so far not the nightmares that they warn of. As for insomnia, I don’t know whether the pills are making it worse or if I’m just going through another bad spell. My headaches haven’t gotten any better, but I don’t know if I’m on a high enough dosage yet for that. My current dose is still not as high as I’m meant to get it up to, but they recommend a steady, slow increase so that you can safely monitor your blood pressure.

I feel very overwhelmed today. Family and social stresses in combination with the fact that my body is wreaking havoc is beginning to take it’s toll. I’m exhausted and in a lot of pain. I’ve been very lethargic while on the beta blockers and if it weren’t for the intolerable heat I’d be trying to nap right now. I truly, truly hope that those who are healthy do not take it for granted. I’d give anything in this world to have that one thing.

On an entirely different note, here’s a photo that I took at the height of flooding season. I loved the way that the reflection on the water looked with the beautiful sky.

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?

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.]

MitraClip for Mitral Valve Regurgitation?

Hey readers, I recently stumbled upon an article that may be interesting for those of you within the Marfan community. It focuses on a new minimally invasive form of treatment for those who suffer from Mitral Valve Regurgitation most commonly caused by Mitral Valve Prolapse. For those of you who don’t know and still happen to be reading this Mitral valve regurgitation is a defect in the heart in which the mitral valve fails to properly close as the heart pumps out blood. Thus allowing abnormal leaking of blood from the left ventricle through the mitral valve back into the left atrium (yes, I’m speaking English… sort of). Like most medical procedures the MitraClip seems to have both it’s pros and cons. 

Anyway, for those of you interested instead of just relaying the entire contents of the article back to you here’s the link so you can get the proper gist of it. It sounds like they’re onto something good.

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.}