A Positive Diagnosis?

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 disorder without having the genetics test done.

I feel as though 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.}

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