My Weekend In Portland

After a decent night’s sleep, as promised I’m going to write a bit about the NMF Conference and post some of the pictures that I took.

The first thing that I need to say is that throughout the entire experience I was embraced with an overwhelming sense of belonging. This was family, this was unconditional acceptance and understanding, and a sense that we all had our own unique battle scars, and that we were all the more beautiful for it. I had found my place for the first time in my life. It felt more like home than anywhere else I’ve ever been. Finding that after so many years of isolation is beyond my ability to fully describe. It’s a feeling that I will hold onto tightly for the rest of my life. For those exact reasons the trip home felt bittersweet. I felt relieved that the long days and early mornings were over and that the increase in my pain because of it would soon subside, but that relief was overshadowed by how much I would miss this atmosphere and the people in it who have taught me so much in so little time. They renewed in me an eagerness and knowledge of how many possibilities are still in my future no matter what obstacles are thrown my way. I don’t feel so alone anymore and when I start to forget that and feel as if I am then all I have to do is look back on this weekend. So many other people are facing so much and overcoming it. They fight through it with a grace and a perseverance that has taught me to try to do the same.

As far as my doctor’s appointments the results were mixed. First off my echo-cardiogram showed no aortic growth since last October which is very good news. Because of those good results I can still go on without beta blockers or losartan. He suggested a follow up echo sometime later this year. There was a new heart murmur but nothing to worry about. My lungs sounded fine and there is still no sign of mitral valve prolapse. Upon discussing the chest heaviness I’ve been experiencing for the last 8 years he said that they don’t know why but the same description had been given by many other people with connective tissue disorders.

Then there was my eye exam. The ophthalmologist noted that my left lens implant was still a little dislocated, as was the right but to a lesser degree. This is what’s causing my visual disturbances and double vision. For the left eye he suggested trying a drop that would restrict my pupil and keep it from dilating. This being in the hopes that with less light being able to enter the pupil that it then won’t refract off of the edge of the lens and cause my double vision. He said that if the drop is successful that there is an operation that can be done to keep the pupil restricted without the use of drops. He doesn’t recommend surgery to try to get the implants in the right place as it’s not safe to keep messing with already faulty eye tissue and there’s no guarantee that it wouldn’t be the same or even worse afterwards.

The orthopedist had nothing that I didn’t already know to say but my reason for wanting to see him in the first place was only for a second opinion so that was fine. He did say that I needed to have a back MRI to check on my scoliosis and make sure it hasn’t gotten worse as well as to make sure I don’t have dural ectasia. The geneticist was a bit of the same. He said as I’ve already been told; that I clearly have a genetic connective tissue disorder. He said in some ways that it definitely looked like typical Marfan Syndrome and in others it did not.

My dental appointment was interesting. They suggested a surgery that could potentially lesson some of my orofacial pain. Because of my crowded teeth and high/narrow palate they recommended possibly looking to medical to cover braces. This is normally not something medical would cover but they wondered if that because braces would be necessary in order to do the surgery if that would be reason enough. The surgery which they didn’t get into too much detail about would somehow widen out my palate hopefully helping a few of my dental problems and maybe lessening some of the pain.

The more I learned in the genetics workshops and the Q&A the more obvious it became to me that of course my FBN1 test would come back negative for Marfan Syndrome. The best I can explain what I learned was that the way they figured out what the mutations in clinical/typical Marfan Syndrome looked like was to test those who have the classic Marfan look and disorder along with those who’s mutations have been passed down throughout their families. But I don’t have a typical Marfan disorder. I have many features but I also have some very key differences. I was taught that the genes responsible for the connective tissue are so complex and that diagnosis via genetic testing still has such a long way to go. There are so many different possibilities when looking at genetics. So many different genes have the ability to cause so many different problems and disorders. They are still finding new mutations that look to be the cause of these tissue disorders. Some of the doctors still think that I have Marfan Syndrome. But for me that label isn’t so important anymore because I have a new understanding of my disorder -whichever one it may be. I’m not so concerned with knowing the name of it anymore. I’ll deal with each problem as it comes, just like I’ve been doing. If it turns out that I do have Marfan Syndrome then that’s what I have. But either way I’ll still have the same types of problems arise and I’ll still have to deal with them just like everyone else.

All in all I’ve learned a lot by being able to go to the NMF Conference. I met a lot of really great and inspiring people. I hope to be able to come back one year and do it all again.

{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.}

Thank You Shriners!

One thought on “My Weekend In Portland

  1. Pingback: Sunshine Award « Connective Tissue Disorders: My Journey

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