Genetic Test Results

 I’ve been waiting for the results of my genetic test forever and I finally got them earlier this week. The test checks the FBN1 gene for any mutations that would cause Marfan Syndrome. Like I’ve said before the test doesn’t completely rule out MFS. The NMF website states that use of the genetic test is limited and that the test alone can not tell you if you do or do not have Marfan Syndrome.

 The test has been of major importance to me. Mostly because I’ve spent so many years now wondering what is wrong with my body and why I am in so much pain. I know generally why but the significance of finally having an answer is huge to me.


 That being said, the results were negative. It sort of felt like a punch in the stomach. In a way I always felt that in my heart the results would be negative. Mostly because I just couldn’t envision finally having the answer I’ve waited so long for. Most people would assume a negative result would be a good thing. But because whether it is MFS or not, I have one of these disorders and I’d prefer it be one of the well known ones instead of one that there is no info on, then I’d at least have some idea of what to expect.
 They basically said that they don’t think that it is Marfan Syndrome and that they think I have a new or undiscovered connective tissue disorder. But they said it doesn’t make a difference to my treatment at the moment. An echocardiogram is still necessary every 6-12 months to monitor the progression of aortic dilation and I should still see my doctor to try to find medications that work for the pain. They also said to come back to genetics in a few years in case they have made more progress in the discovery and understanding of these disorders because maybe by then they will have a better idea of what this is.


 I posted about how I officially meet the criteria of MFS without the test and so we will be calling genetics later today to ask them about that and why they would still rule it out. It does say that they will not diagnose Marfan Syndrome even if you meet the criteria if you show signs of another disorder. I’m assuming this is why they don’t want to stick me with an MFS diagnosis. They said some of my symptoms are less common and more extreme than those seen in typical MFS. They said something along the lines of although it is possible and seen in some patients, it isn’t all that common to see such bad and constant headaches as well as such debilitating rib pain. This makes them wonder if the cause is something else. It’s hard because you are told you likely have something, you research for hours and learn everything there is to know so you can semi predict how your life will be affected, and then your told you don’t have it and you have to start from scratch.


 At first I had contemplated locking myself in my room for a few days and having a good bout of depression after getting the results, but when I woke up the day after I felt okay again. I just needed to remind myself that this won’t make much of a difference in the grander scheme of things. I did want to finally know for sure, but maybe one day in the near future I will.

Lucky To Be Here

 So in the wake of the tragic events occurring in Japan right now I find these past few days that I am taking extra comfort in the little things and making sure to be thankful for what I have. When I lay on my bed I am sure to remind myself of how lucky I am to be where I am because there are so many people who have lost so much. They are all in my thoughts and in my heart.


 That being said, you can donate money towards disaster relief in Japan via the Red Cross by texting REDCROSS to 90999 (which is a 10$ donation), and for Canadians you can donate 5$ by texting ASIA or ASIE to 30333.  For more information visit their website: http://www.redcross.org/. Should you choose to donate through other organizations make sure that they are legitimate and not scams.

A Positive Diagnosis?

 So there is a genetics test done for some of those with symptoms of Marfan Syndrome but not enough for a positive diagnosis. What they do is take some of your blood and send it off to be tested. When I began being re-evaluated for the disorder at 13 my genetics doctor and my cardiologist both wrote to a provincial government group (not too sure who or what) to have the cost of the test covered. Without that we wouldn’t be able to get the test done because it is $1200 or so which we just don’t have. I was rejected the first time. They both tried a total of three times to get them to reconsider but they refused us each time. Their answer was “it won’t make a difference in her life and treatment” which I thought was completely false. Knowing why I was in so much pain and had all of these problems would’ve made all of the difference in my life.

 Last October when they found the enlargement of my aorta they were sure that the cost would finally be covered, which it was. I was ecstatic. But we were told that a negative diagnosis doesn’t mean you don’t have the disorder. Most people with MFS will test positive, but some do not. 10-15% of people will test negative, but will still have the syndrome. The test results will be in any day now. It’s taken 3 or 4 months to have it tested as opposed to the 6 weeks it should’ve taken. First there was a problem with the paperwork to get my blood across the border to the U.S. and then a few weeks later we were told they had “run out of my blood and needed a new sample.” So from there we were told it would be another 8 weeks. 

 I feel like none of that really matters though. The Ghent Criteria used for diagnosing Marfan Syndrome was revised and refined at the end of last year. Now all that I would need for a positive diagnosis is a z-score of 2 or more (the calculation of aortic dilation) and ectopia lentis. My z-score is 2.05 and I have ectopia lentis. So, I now meet the criteria for the syndrome without having the genetics test done.

 I think my doctors still wanted me tested just in case I may have one of the other connective tissue disorders as some of them mimic MFS in many ways. But either way, I feel a sense of closure now that I’ve seen the fact that I meet the requirements of the disorder. I don’t have as many doubts about my diagnosis anymore, where as before I always wondered if maybe there was a chance that they were wrong and that I didn’t have MFS or any CTD for that matter. I’m not at all happy that I have one of these disorders but it is better now that I finally know. No more wonder, no more not having a clue what to expect.

 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. If you are in need of medical advice see your doctor.

Brain Scare: New Perspective

Just to quickly mention; I started a new blog at http://connectivetissuedisorders.wordpress.com/. I'll be using that as my main blog from now on.

Here are some of my more recent posts from that blog.

So shortly after learning that my aorta was now beginning to dilate I had made an appointment to meet my new family doctor. I had heard good things about her and was looking forward to finally having a doctor that might make some progress in my pain management situation.

 I had been getting horrible migraines every once in a while starting a few weeks before I went in for the appointment. I have headaches everyday but these were different and on top of the headaches I already had they were pretty unpleasant. I was also at times sleeping for up to 22 hours at a time compared to my usual insomniac self. When I told my doctor all of this she immediately wanted me sent to the hospital for a brain CT to ensure that it wasn’t some sort of aneurysm causing the pain. As I’ve stated before Connective Tissue Disorders can weaken artery walls causing such things. She assured me she didn’t think anything would show up but wanted to be sure before she sent me home for the weekend (this was a friday). To put it blatantly she said she’d rather do the scan then have me drop dead during the weekend. I was sent to the hospital and a few hours later after the scan was complete I was free to go. She instructed us to wait at home and said that she’d call only if anything showed up. She said that any call from her wouldn’t be good news and to hope she didn’t call.

 I wasn’t even slightly worried. I had never heard of brain artery involvement in Marfan Syndrome and knew the test was a better to be safe than sorry sort of thing. I have all sorts of pain everywhere and was sure this was just another one of those things. Imagine my surprise when the phone rang later that night. “Abnormality” and “looks to be stretching” were pretty much the only words of that conversation that really registered. As soon as I had seen her number on the call display my heart had just about shot out of my chest. I hung up the phone and tried my best to keep it together long enough to explain what she had said to me to my family, but I could not find my words and soon broke down.

 I finished explaining what she had said to my mom and grandparents, as tears trickled down my cheeks despite my desperate attempts to stop them. Though, the crack in my armour only lasted until I looked around to see the heartbreak written on their faces. These, the people that love me more than anyone could ever ask for, drenched in disbelief and devastation. I decided immediately to pull myself together -show them that I was okay, that I’d be okay. To be honest I was in shock. There was a lot of this can’t be happening type thoughts running through my head. First my heart, now my brain. The two most important organs in the body and both were damaged.

 We were told a specialist at The Children’s Hospital would need to look at my scans before any talk of surgery or treatment or even what was really going on could happen, as the radiologist in our town was not as experienced in dealing with young people and tissue disorders. We were told to wait a week and if the radiologist hadn’t called by then to phone them. A week went by, no phone call. I sat there that week confused, sometimes devastated, sometimes terrified, but most of the time numb. Though sometimes horrifying thoughts crept in. I didn’t think I was going to die, but I didn’t know. Was there a chance? I felt as though I needed to write a small will of sorts. I began to regret all of the things I had missed out on and many of the choices I’ve made. I began to feel as though this was the end. Maybe not of my life as a whole, but my life as I knew it. My mind sometimes wandered to thoughts of brain surgery, brain damage, and yes, sometimes even death. We called only to learn that the radiologist had been out of town and that it may be a few more days before we would hear from him. Each day dragged on forever. I was like a shell of myself, keeping my mind blank as best I could in order to cope. The not knowing was the worst. It was maddening.

 Finally two weeks after initially learning this news we received the phone call. At first I had dreaded the phone call. It would solidify that this was real and that I was going to have to deal with it. But I knew that any news I was about to learn couldn’t be any worse than what I was imagining. After feeling as though my entire life had come crashing down I finally caught a break -a big one. My brain was fine. That’s right, I said fine. You would expect me to say that I was ecstatic. But the truth is; though I was thankful beyond comprehension, I was still in defence mode and felt numb. However, I had as I saw it been given a second chance in a way, accompanied by an entirely new perspective. I was baffled and frustrated that the last two hellish weeks of mine and my family’s lives were unnecessarily so. I was understandably confused as to why one person viewed the results of the scan so entirely different than another but I didn’t let any of those emotions consume me.

 I stayed numb for a few days until the reality of the situation finally set in and I felt I could really let my guard down. I was going to be okay. And that wasn’t just what I had to tell myself to get by this time, it was the truth.

17 Years Old: Aortic Root Dilation

So 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 symptoms and that this would explain things nothing else could, but like I said; I still had hope. 

Anyone knows the biggest worry with some of the CTDs like Marfan Syndrome is the problems they can cause with your heart.  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 are at for an aortic dissection. 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 have 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 would 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 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. 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 is 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 is 5cm-5.5cm, although it is 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 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.

16 Years Old: Right Lens Implant Dislocation, Another Surgery

While I was still healing from the last surgery a few weeks into December I got an early Christmas present (sarcasm). I noticed a ring around the outside of my right eye. I assumed it was the lens but when we went to my optometrist he said everything looked fine. I knew that even though he couldn't see a problem that there was one and it would only be a matter of time before we found out what it was. Finally after a few days of the ring increasing in length and thickness I new what was going on. I bent over to get some pajamas out of my dresser and my entire lens slid forward. I could see it sitting in my eye and remembering how I was instructed not to bend over last time so that it wouldn't lodge in my pupil I immediately stood up. It was different this time as it was slowly dislocated where as the left one had done so in an instant. Like the last time I had to wait a week before I could have surgery. This time I think my surgeon was already booked or something. So another long, long week of sleeping upright and worrying. Though I think this time I had every reason to fret. The last surgery had turned out less than what I'd hoped and my vision with my good right eye wasn't nearly what it used to be. If the same things happened again I wouldn't be able to see very well at all. Not to mention the pain. I was terrified I would have to go through all of that pain again. I just tried to remind myself that this would be the 7th time I've had to do this, and 5 out of those 7 times the pain really wasn't that bad.

My surgeon planned to reattach the lens as he had done with the left eye. The first thing I remember after waking up from the surgery is being in tremendous pain. When your in the hospital they tend to ask you to rate your pain on a scale of 1-10. First of all let me just say I hate that question because I tend to over think it. I've never been in the worst pain imaginable so how can I rate my pain in accordance to this? That being said I kept saying it was an 8. They kept me in the recovery room far longer than I'd ever had to be kept there and would return every five minutes to ask me if the pain had lowered -which it hadn't- so they would administer more pain meds via IV. After an hour or two of this they finally wheeled me back to the holding area. I just remember laying curled up in a ball on the bed clenching my fists and waiting for them to bring my mom in. Sometimes a girl just needs her mom. But they didn't bring her in for a long time after that and they still couldn't get my pain under control. See people in my family (me, mom, brother), tend to not respond much to pain killers as well as anesthetic. Like for instance if the dentist needs to freeze my mouth it takes a lot of freezing and a much longer time for it to kick in on me than most people and my mom doesn't freeze at all. And with Tylenol 3 which I take for pain most of the time I can take two at once and will feel nothing. So these heavy duty pain meds; morphine, demerol, oxycodone, and whatever else they attempted were doing nothing to relieve any of my pain. Meanwhile, I was told that my eye had hemorrhaged again -the reason for all of this pain? Eventually I just began vomiting all of the medication back up. My body had had enough of that, especially considering I didn't have any food or water in my system to help it cope. I was in the hospital for 9 hours after my surgery (as apposed to the usual 2 hours) but eventually I just wanted to go home and sleep and since nothing they tried seemed to help the nurses didn't oppose. I was still getting sick by the time we got home but despite everything I was wiped enough to fall asleep.

This recovery time was the longest by far. It took months and months before my vision had officially reached it's potential and the pain finally went away. Sadly for me, my vision didn't return to nearly what it had been. No double vision or floppy iris, which I am very thankful for, but for some reason now I can't see close to as well for distance as I used to be able to. 

This has all been very hard to adjust to. But I try to remind myself often that I am extremely lucky for the vision that I do have and that many others could only hope for such. I am not blind, I can see. And that will have to be enough. The hardest part for me is having been given that gift, only to have it taken away again. But I'm still thankful for the time I had with my implants when I could see so well and felt as if they had been mine all along. I still hold out hope that one day they will be able to fix my vision. But until I can be sure I won't go into surgery and have there be a chance of an even worse outcome I will learn to live and cope with my new vision.



Drawing I did recently. Seems fitting for these past few blog posts.
I have not let my change in vision stop me from doing what I love.



16 Years Old: "Floppy Iris Syndrome" & Another Surgery

I went to my local optometrist for a post operative check up and to voice my concerns about my new vision problem. He said that I had what he called "Floppy Iris Syndrome" (sounds made up, I know). Again he reminded us he could only offer speculation but he said it appeared that because my implant was placed further back this time to prevent it catching on my pupil and rubbing my iris that there was nothing to support my iris and so it was "flopping". This made perfect sense. Back we went to Vancouver to consult with my ophthamologist. He decided that this time he would implant a new lens. My eye was still red and not yet fully healed so the thought of them cutting into it again so soon didn't seem right to me. But he assured us it was best to do this right away as opposed to months or years later. So again -a month and a half later- surgery was booked for the following morning. I felt doomed this time for some reason. I felt that something would go wrong again and that I would not be able to see as well. Not long after I woke up from surgery my mom informed me that yet again at the last minute my surgeon had decided not to implant a new lens and to instead reposition the old one. I was really irritated and a bit disheartened, but reminded myself that he was the surgeon and he knows best. This time my pain level was a lot higher it had ever been with my other surgeries. Not unmanageable but higher.

The day after the surgery though, would end up being one of the hardest things I've ever gone through. I woke up in a tremendous amount of pain. It hurt to look anywhere, but if one eye moves so does the other. When we got to the eye doctors for my checkup (with a surgeon's helper, not my actual surgeon) I was very aggitated. I had done this 5 times before, I knew the drill. They were going to take off my patch and hold open my eyelid, shine a light in it, put drops in it. Usually I wouldn't flinch but this time I was in so much pain that the thought made my stomach turn -and for good reason. The pain I felt just from the weight of that tiny drop hitting my eye was enough to make me tear up and cry out. Of course the doc thought I was just being a baby he didn't know me or my history, until my mom promptly explained to him that even at four years old I had not complained once during all of this. This was not the same, something was wrong. I have a very high pain tolerance. After all I'd been living in pain literally everyday for the past 2 and a half years. And so she knew the amount of pain I must've been in. But things were about to get much, much worse.

To find out what was wrong I would need an ultrasound on my eye. At first I was certain they must have a different way of doing this one eyes. There was no way they were going to hold that thing down on my eye and move it around. My eye was still mushy and flat, there were stitches sticking out everywhere and fresh wounds, not to mention a drop hitting my eye was really painful and this thing would be much heavier. There was no way. But yes, that's exactly what they were going to do. I almost swallowed my heart as they explained the procedure. The 20 minutes it took seemed to drag on for hours. My fingers hurt from clenching the chair arms so hard. I could hear my mom sniffling in the corner. I was silent, -I was afraid to unlock my jaw and unclench my teeth- but she could tell by how I was holding my body how much pain I was in. Like I said, I have a high pain tolerance, and this was the most painful thing I've ever had to endure. It was like someone was splitting my skull with a sledgehammer and electricuting me at the same time. But, it needed to be done. The ultrasound revealed that my eye had hemorrhaged and was severly inflamed which was the cause of so much pain. This could be very damaging to the eye if left untreated. I was immediately put on a high dose of steroid drops four times a day (more pain!) along with steroid tablets to help the healing and zantac to protect my stomach from the steroids. I was also on a few other drops that I always take after surgery starting four times a day everyday. I was a bit traumatized the rest of the day, but proud that I had handled it -not that I had much of a choice. I was surprised to know how much pain we are capable of dealing with when left with no options though.

My eye (because of the complications) was taking a much longer time to heal than it had after the previous surgeries. I was edgy and wanted to know if my vision would be back to the way it used to be before the floppy iris. After all of the pain and worry, the drops, the traveling, the money, this surgery turned out worse than the last one. I didn't have the floppy iris now, but I had severe double vision. Along with that my vision itself had decreased considerably compared to before. I could no longer read nearly as well as I had been able to (my left eye is my nearsighted eye). I double vision I'm told is a hazzard of the type of lenses I have, along with the size of the lens. It is rare but sometimes people do end up with these visual aberrations. The name of the aberration that closest fits mine is Coma aberration.



Above is a photographic example of the coma aberration. On the far left is how a normal image would appear (in my case). The middle is how a slightly distorted image in my field of vision would look, and the far right is how bright things like lights, street signs, televisions etc, always look. This has and will prevent me from ever driving in the dark, though I suppose I'm lucky I can drive at all. Still I'm sure that not being able to get myself around after dark will prove to be an obstacle time and time again in the future.