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.
Monday, March 21, 2011
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.
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.
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.
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.
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