Marfact #20 + My lens journey: Part 1

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #20: Eye problems associated with Marfan Syndrome include early nearsightedness, early glaucoma, lens dislocation and retinal detachment. Treating eye problems early is key to maintaining quality of life.

Visit www.marfan.org for more information.

*I’m splitting this post into two parts because it’s a bit of a long story.

Lens dislocation and the complications that come with it is something that I’ve dealt with in some capacity my entire life. I was 4 years old when I was diagnosed with ectopia lentis and not long after that I was undergoing the first two of seven eye surgeries because of it. These early surgeries were done in order to remove the lenses and fit me with highly magnified bifocal glasses. I hated those glasses with a passion for how they made me look, but at the same time I was actually seeing the world for the first time in my entire life.

When I was 10 years old my dream of ditching the glasses and being able to see out of my own eyes, without any vision aids, finally came true when it was decided that I was a good candidate for lens implants. And so, it was with surgeries number 3 and 4 that I received one of the most amazing gifts I could have ever imagined. Things were relatively calm for the first few years afterwards but then I gradually began getting unexplained bouts of Iritis and Uveitis that would cloud up my vision, as if I was looking through a frosted window. These episodes were gradually becoming more frequent and severe, until one day I woke up without being able to see anything out of one eye and subsequently landing in the ER, wondering if I had gone permanently blind in that eye.

It turned out that my lenses were rubbing on my irises, causing tiny pieces of them to flake off. This would then clog my pupils, disallowing any fluid to escape and causing the pressure within my eye to skyrocket. To remedy this without trying to re-position my lenses my ophthalmologist decided to use a YAG laser to make a small hole in each of my eyes, underneath my upper eyelid (too small to see) so that if my pupil did become blocked there would still be a way for the pressure within my eye to escape. And, although the procedure itself was really unpleasant because my eyes wouldn’t freeze properly and I could feel the holes being burned, it ended up working really well and afterwards the episodes dissipated entirely.

Part 2

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Marfacts: 18 + 19

Marfan Awareness

This story tragically highlights why it’s so important to raise awareness about Marfan Syndrome: so no other families have to suffer this same devastating loss, and so no more lives are cut short needlessly. I dream of a day when there are no more stories like this one. My heart goes out to Stevie’s family and friends, as well as all of the other families who’ve lost a loved one this way.

In honor of Marfan Syndrome awareness month, here’s yesterday and today’s Marfacts (provided by the wonderful Marfan Foundation and Marfmom).

Marfact #18: While there is no cure for Marfan syndrome, continuing advances in medical care and research are helping people with the disorder live longer and enjoy a better quality of life.

Marfact #19 (courtesy of the awesome Maya over at Marfmom): Consistent monitoring of the heart and aorta is vital for patients with Marfan syndrome. This leads to a greater likelihood of preventative surgery, which has better outcomes than emergency surgery after a dissection (tear of the aorta) has taken place. Most people with Marfan are on some sort of medication to keep their blood pressure very low in order to slow the growth of the aorta. Typically this is a beta blocker, but ARBs like losartan and irbersartan are currently being researched as well.

If you suspect that you or a family member may have Marfan Syndrome or a similar connective tissue disorder, please get evaluated by a medical professional (who is familiar with these disorders). Visit www.marfan.org for more information.

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Marfact #17 and if I had known earlier.

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #17: People with Marfan syndrome should not play competitive or contact sports because of the effect on the fragile aorta, as well as the pressure they put on the fragile bones and joints

Visit www.marfan.org for more information.

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This is something that would have been different for me growing up, if I had gotten the diagnosis of Marfan Syndrome earlier in life. I loved sports in school and participated in any school sports team that I could. I also played a lot of games of dodge-ball that probably should have been avoided for someone with my tissue disorder.

Looking back on it, even without the diagnosis of Marfan Syndrome, my history of lens dislocation and implants should’ve taken things like dodgeball out of my physical education curriculum. But, even the eye surgeon who did all of my previous surgeries never suggested that I avoid sports, contact or otherwise in the long run.

I can remember getting hit in the head more than once with a dodge-ball or volleyball in school, and on one particularly rough occasion that it precipitated one of my earliest instances of Iritis. I think it was either later that night or the next day that the vision in one of my eyes began to cloud over and fill with thousands of tiny floating dots.

Obvious risks aside, because of how much I loved sports in school and how much they meant to me, I can’t help but be glad that I was able to participate in them growing up. Don’t get me wrong, if I had known the risks I wouldn’t have done it and I’m extremely thankful that nothing too bad came of it, but it was still nice while it lasted.

I do often wonder though, if those instances and injuries may have contributed to my lens implants dislocating later in life. Or even some of the particularly weak tissue I have in certain joints. It was right around when I started joining the school’s basketball and volleyball teams that my first tissue injury and chronic pain started (a painful ganglion in my left foot at 10). But I guess I’ll never know for certain how things would’ve or could’ve turned out under different circumstances.

Marfact #16, quality of life, and thanks!

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #16: There is no cure for Marfan syndrome. However, a range of treatment options can reduce and sometimes prevent complications.

When the words Marfan Syndrome were first mentioned to my parents as something that I could potentially have they carried with them a very bleak and devastating outcome. It was thought that should I have the syndrome I would likely only live long enough to become a young adult at best. Today however, because of the treatment options offered – mainly where our cardiovascular systems are concerned – and the ever-expanding knowledge of connective tissue disorders, our lifespans are now on average the same as those in the general population.

It’s truly amazing how much things can change in the span of 20 years. Length of life isn’t so much of a worry anymore, but with that instead comes the increasing fear of quality of life. Our faulty connective tissue now has far longer to carry us than it ever has before. It’s scary to think about what kind of shape I’ll be in physically or how much more the chronic pain will have increased a year from now, never mind 40 years from now.

But, fears for the future aside, I’m extremely thankful that I live in a time where so much is available to us medically. And, if that much can change in 20 or 30 years who knows what treatment options we’ll have in another decade or two.

Visit www.marfan.org for more information.

I want to thank the Marfan Foundation for supporting Tissue Tales and sharing it on their Facebook page. I have so much love and appreciation for all that they have done and continue to do for those of us who live with connective tissue disorders and to have their support where this blog is concerned is an enormous honor.

And a ton of thanks to the wonderful Ben for his reblogs of the Marfacts! Please do stop by Ben’s awesome blog and have a read – and a look at his art. You’ll be glad that you did!

Marfact #15, genes, and connective tissue disorders.

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #15: Marfan syndrome is caused by a defect (mutation) in the gene that tells the body how to make fibrillin‐1 ‐‐ a protein that is an important part of connective tissue.

While Marfan Syndrome affects connective tissue through it’s influence on fibrillin, the connective tissue faults found in Ehlers-Danlos Syndrome are instead due to mutations affecting the body’s collagen. Both fibrillin and collagen are very important in the function of our body’s connective tissue.

Also, connective tissue disorder causing genetic mutations have been found and identified on the gene that tells the body how to make fibrillin-2. This ties into what I was saying before about the complexity of our genes and connective tissue and how we’re still in the process of learning so much about both.

When I had my genetic test done they only looked for mutations affecting fibrillin-1. The test is pretty expensive and in my case the cost was only covered for that specific gene (and only after my aortic root started becoming enlarged). That’s one of the reasons that we weren’t overly surprised when the test came back negative.

For now I’m alright not having the test done on any of the other genes but it’s definitely something that may be worth considering more in the future.

Visit www.marfan.org for more information.

Know the signs; save a life.

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Marfact #14 and MFS in my family.

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #14: About 75% of people with Marfan Syndrome inherited it from a parent; in the other cases, it was the result of a “spontaneous mutation”, meaning that it happened randomly.

My family and I always thought that I had gotten my tissue disorder spontaneously and not by inheriting it from a parent; but, as the years go by I often wonder if I may have inherited it from my mom. Throughout her life – especially into adulthood – she’s suffered from a lot of unexplained health and chronic pain issues and some of them – like her sporadic knee dislocations as a teenager – could very well be connective tissue disorder related problems. Because of this possibility and the serious dangers of unchecked heart issues in tissue disorders she did undergo an echo just to be safe – which thankfully came back fine. But, despite her heart and eyes being okay to date, I will always wonder if she has the same disorder as me.

No one else in my family has symptoms suggestive of a tissue disorder, so in any case it seems to have either started with me or my mom. That’s one reason I wish that my genetic test for Marfan Syndrome had come back positive: so that we could’ve then tested my mom for the same  gene mutation, and maybe finally given her some answers as to why she’s had so many health and pain problems. She’s gone more than long enough without getting any and I’d really like that to change. Not that I’d want her to have my disorder, but she’s dealing with chronic pain and health issues regardless and at least then we’d know why. ♥

Visit www.marfan.org for more information.

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Happy Valentines Day everyone. ♥

Much love to you all and thanks for checking in for another Marfact.

– Katie

Marfact #13

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #13: A person with Marfan syndrome has a 50% chance of passing it on to each child. It does not skip generations.

To add to this fact: There are no unaffected “carriers” of the Marfan causing gene mutation, due to the fact that it’s an Autosomal dominant disorder. This means that if a parent has the disorder you will have a 50% chance of either inheriting Marfan Syndrome from them and having the same 50% chance of passing it on to your own future child/ren or you won’t have the disorder and there will be no risk of your child getting it (at least no more risk than in the general population).

Visit www.marfan.org for more information.

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Hopefully all of the above makes sense – I’m not too great at explaining anything genetic on the best of days and right now I’m running on almost no sleep.

Hugs to you all,
Thanks for reading! ♥

– Katie

Marfact #12

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #12: When getting evaluated for Marfan syndrome, the possible outcomes are: a Marfan syndrome diagnosis, emerging Marfan syndrome, another genetic disorder of connective tissue or no specific diagnosis. Regardless of the outcome, medical treatment and follow‐up care for the existing symptoms are critical.

“In My Hands” clip:

Visit www.marfan.org for more information.

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Marfact #11 + My experience with the tissue disorder family.

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #11: Several conditions exist that are related to Marfan Syndrome that cause people to struggle with the same or similar physical problems. Early diagnosis and treatment are key for these disorders too! 

To add to this fact: it’s also not all that uncommon for people with connective tissue disorders to have originally been diagnosed with one disorder only to later have their diagnosis switched to that of another one. For example: you may be diagnosed with Marfan Syndrome initially, but as more symptoms present over time (or more is learned about said disorders) your diagnosis may eventually shift to something like Ehlers-Danlos Syndrome or Loeys-Dietz and vice versa. There are also many people with connective tissue disorders who present with what appears to be a mix of several disorders, or, don’t fit into any of the known or named ones but still clearly do have some kind of connective tissue disorder.

I happen to be one of these people. While I do meet the clinical criteria for a Marfan Syndrome diagnosis, at the same time I have a lot of medical issues related to my disorder that are atypical of MFS and resemble more closely Ehlers-Danlos Syndrome. My genetic test also came back negative for any known MFS causing genetic mutations. Over the years I’ve met with a 50/50 verdict from my doctors; half seem to be pretty sure that I have Marfan Syndrome while the other half think I definitely have a different tissue disorder.

The older I get and the more my disorder presents the more obvious it becomes that I don’t just have Marfan Syndrome, if I have it at all. I have something very similar to it in many ways but it’s not the same. I often wonder if the disorder I have just has yet to be discovered and named. There’s still so much to learn about not only connective tissue disorders but genetics themselves. It hasn’t been all that long since Loeys-Dietz Syndrome and the genetic mutations that cause it were even discovered.

I used to struggle with not knowing for certain what disorder I have. But, it doesn’t bother me so much anymore. For now we just call it Marfan Syndrome and take all of the necessary precautions and undergo all of the preventative screening needed with any tissue disorder. Just knowing for certain that I have a connective tissue disorder after spending so long in unexplained pain, fighting and searching for a diagnosis, while so many doctors were more than happy to tell me there was nothing wrong at all and it was in my head, is more than enough. It’s estimated that 50% of people with Marfan Syndrome don’t know that they have it, and the number’s even higher for people with Ehlers-Danlos Syndrome. That’s another reason why it’s so important to spread the word – it could help give someone who’s been suffering for years without any answers that life changing diagnosis.

Visit www.marfan.org for more information.

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One thing that I’ve learned throughout my journey with my tissue disorder is that diagnosis is not a black and white thing, especially with such complex disorders. Genetics themselves are extremely complicated and connective tissue influences every major part of our bodies in endless ways.

Marfact #10

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #10: Family medical history is an important consideration when seeking a Marfan diagnosis. Even if Marfan syndrome was not diagnosed, look for parents and grandparents who died from an unexplained, heart-related death before the age of 50. 

There’s also a really great, educational documentary about living with Marfan Syndrome called “In My Hands“. The Marfan Foundation has posted some clips of the movie on Youtube and I’d like to share them again with you this year (or for the first time for those of you new to Tissue Tales!). They provide some really accurate insight into the life of someone who has MFS and the different things that we face – medically, emotionally and physically – because of it.

Visit www.marfan.org for more information.

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