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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Marfacts 7, 8 and 9

Hi everyone, sorry for the late facts. This weekend was pretty miserable pain and sleep-wise so I got a bit behind.

In honor of Marfan Syndrome awareness month, here are some Marfact for the past 3 days (provided by the wonderful Marfan Foundation).

Marfact #7: Marfan syndrome and related disorders affect about 200,000 people in the United States. These disorders are not nearly as rare as we think!

Marfact #8: Marfan syndrome and related disorders affect men and women of all races and ethnicities equally!

Marfact #9: Diagnosing Marfan syndrome requires a multi‐system clinical exam; that means an examination by a heart doctor, a bone doctor and an eye doctor. Genetic testing can sometimes be helpful.

Visit www.marfan.org for more information.

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Marfact #6

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

Marfact #6: If Marfan syndrome is suspected, talk to your doctor and seek an evaluation. You can get more information at the Marfan Foundation, Marfan.org or 800‐8‐MARFAN. And remember, Marfan Syndrome can cause serious heart issues, with little or no symptoms until it’s too late. So, if you suspect you may have the disorder; tell someone! It’s always better to be safe than sorry.

Visit www.marfan.org for more information.

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Another huge thanks to the wonderful Ben who’s been re-blogging these for Marfan awareness! I highly recommend that you stop by Ben’s blog and have a read, it’ll be well worth it!

Also, thank you so much to Women Who Think Too Much for their reblog of yesterday’s fact. You rock!

Marfact #5 + My heart health.

First off I want to give sincere thanks to the amazing Benjamin Prewitt and Sonda’s MCS Chatter for kindly re-posting Marfacts on their blogs! Thank you both so much for helping spread the word!

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

Marfact #5: The life‐threatening part of Marfan syndrome is it’s effect on the aorta, the large blood vessel that takes blood away from the heart. In affected people, it can enlarge, leading to a tear or rupture. With monitoring and treatment, this does not have to happen!

Visit www.marfan.org for more information.

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I was 17 years old when my cardiologist at BC Children’s Hospital sat my mom and I down and told us that my aorta was starting to enlarge. It was a hard thing to hear. This wasn’t my first echocardiogram; I’d been having them once a year, every year – as recommended – since I was diagnosed, in order to monitor the size of my aorta. Every year everything looked normal, and so that’s what we came to expect. I was never worried in the minutes between having completed the echo and getting the results, not even in the slightest.

Even though that’s a major feature of Marfan Syndrome – enlarged aorta – I always just had this feeling that it wasn’t going to happen to me. And that feeling grew after every normal echo, enough that I kind of felt invincible in regards to my heart and aorta. I felt even safer about it due to the fact that I was more of an atypical case of Marfan Syndrome to begin with. It was a nice feeling too, when so much of the rest of my body was continually breaking down or falling apart *I’m talking to you, eyes!*.

Needless to say that this sit-down conversation with my cardiologist was sufficient in bursting my bubble of aortic invincibility. The news wasn’t devastating so much, considering that overall my heart was still doing really well, but it was another manifestation of my disorder and it’s growing impact on my body and that’s never easy to swallow.

Three years later and though I’ve now been diagnosed with mitral valve prolapse, my aorta is doing really well. It hasn’t grown anymore since that initial change and the current measurements show that it’s still only slightly enlarged. Considering what some people with Marfan Syndrome have been through with their cardiovascular systems I count myself very lucky in that regard.

I don’t think of my annual echos as quite such a non-issue anymore, and every so often I give a worried thought to how things are going to look at my next cardiologist appointment, but mostly I try my best to just take things as they come and not dread or dwell on the “what ifs” of it. Marfan Syndrome can be a pretty terrifying thing if you’re looking at it through the potential worst case scenarios, but then again, life’s like that too. :)

Marfact #4 + The importance of a diagnosis.

In honor of Marfan Syndrome awareness month I’ll be posting one Marfact each day to raise awareness. All facts – unless otherwise stated – have been provided by the wonderful Marfan Foundation.

Marfact #4: Knowing the signs of Marfan syndrome can save lives. Common outward signs are long arms, legs, and fingers; tall and thin body type; a curved spine; and a sunken or protruding chest bone. 

Visit www.marfan.org for more information.

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Many  people with Marfan Syndrome had never heard of the disorder until a doctor, a friend, a coach, or even a stranger noticed their symptoms and mentioned Marfan Syndrome to them. That is exactly why knowing the signs really can save lives. Due to ongoing research, advanced medical treatments and medications, the life expectancy for people with Marfan Syndrome is now the same as for those without. That’s incredible! When my mom was first told that I might have MFS the only information anyone in my family could get their hands on said that if I did in fact have the disorder I would likely only live into early adulthood. Things have definitely come a long way since then. But, as amazing as this improvement is, it’s entirely dependent on having the proper diagnosis, therefore being able to receive the proper medical  screening and treatments before a life threatening emergency occurs.

Another reason diagnosis is so important is that if an emergency does occur for someone diagnosed with MFS – such as an aortic dissection – knowing that person has Marfan Syndrome and is therefore at a 250 times greater risk of having an aortic dissection can help make sure that the proper tests are done first and that the correct diagnosis is made faster – which can make all the difference in that kind of emergency situation.

I’m very grateful to have a diagnosis. It was a long and very difficult road to get there but knowing what type of disorder I have has lifted a huge burden of uncertainty off of my shoulders. I don’t have to wonder about it anymore and that’s a huge relief. And I think that the difficulty in getting there only made finally having answers all the more meaningful. Not to mention getting diagnosed allowed me to find the amazing, loving and supportive community of people with connective tissue disorders that I’ve been lucky enough to connect with. They’ve seen and gotten me through a lot of the more difficult aspects of being chronically ill and I can’t imagine life without them. We’re one big, bendy family. ♥

Marfact #3

*My apologies ahead of time if this post is poorly written. I’m functioning on such a small amount of sleep that it’s a wonder I can type at all.* ☺  

Most of you probably remember how this goes from me doing it last year, but for those of you who are new to Tissue Tales: In honor of Marfan Syndrome awareness month I’ll be posting one Marfact each day in the hopes of helping to raise awareness. All facts – unless otherwise stated – have been provided by the wonderful Marfan Foundation.

For anyone who would like to help raise awareness, the MF has also put together a really handy social media toolkit that you can find by clicking here. The toolkit has ready-to-use tweets, email signatures, and more.

So, without further ado – and before I can’t even prop my eyelids open with my fingers – here’s today’s Marfan-related fact:

Marfact #3: Without a diagnosis and treatment, people with Marfan syndrome and related disorders are at risk of a sudden early death. But with an early diagnosis and treatment, they can live a normal lifespan.

Visit www.marfan.org for more information.

Have heart for Marfan Syndrome!

Hopefully tomorrow, once I’ve gotten some sleep, I’ll be able to update on how my doctor appointment this morning went.

For now, thanks for sticking around to learn more about MFS and how it effects me!

Much love ♥

-Katie

My introduction to Marfan Syndrome + Marfact #2

First things first, here’s your Marfact for the day (provided by the Marfan Foundation)!

Marfact #2: Marfan syndrome is a disorder of the connective tissue, which holds all parts of the body together and helps control how it grows.

Today I want to talk a bit about how and why the words Marfan Syndrome first came into my life.

1st Eye Surgery

I was 4 years old the first time a doctor ever suspected that I had Marfan Syndrome. To be more specific, it was my optometrist the moment he found out that I had ectopia lentis, or in other words: dislocated lenses. This is a fairly rare ocular finding overall but is commonly found in cases of Marfan Syndrome and a few other connective tissue disorders. My mom had taken me to the eye doctor thinking that I may have had lazy eye. Little did she know the foundations of her world were about to be shaken.

Not long after that initial finding we were being sent 8 hours away for surgeries and I was undergoing evaluations at BC Children’s Hospital for a rare genetic disorder no one in my family had ever even heard of before.

Looking back now, the part that seems the most frightening to me is the outcome. Even at that young age I did have a few alarming characteristics of Marfan Syndrome, most notably the dislocated lenses. As always, a cardiologist did an echo-cardiogram to see if my aorta was enlarged (another common finding in MFS). Thankfully, at the time my aorta was perfectly normal, which at such a young age isn’t all that uncommon in MFS.

The scary part was that based on this finding we were told by the geneticists evaluating me with 100% certainty that I did not have Marfan Syndrome and that I wouldn’t need any future follow up care or screening. And, that was that. We were never told that I should get echo-cardiograms as I aged to make sure things continued to look normal, or that sometimes a negative diagnosis at a young age can change into a positive one as you grow and more symptoms appear. We were simply told that I did not have Marfan Syndrome, end of story.

At the time this was obviously fantastic news. But it could have ended tragically had my aorta not been so stable during my childhood and early teens. I was always on our school’s sports teams and participating in anything gym class threw my way, never having any followup screening done on my heart. And, it wasn’t until almost 11 years after we initially heard the words Marfan Syndrome that I was properly diagnosed with a connective tissue disorder.

It’s frustrating looking back on it. I spent so many years scared and in pain with increasing amounts of unexplained medical problems. I saw countless doctors and out-of-town specialists, went through endless tests and sleepless nights. All for the sake of so desperately trying to figure out what was wrong with me and why my body seemed to be falling apart, when the answer had been there all along.

And, my hope is that with increased education and awareness that instances like this will become less and less. Doctors, specialists and even patients will see the signs and symptoms of a connective tissue disorder and recognize it for what it is and get the proper help. I’ve heard so many stories of people who’ve spent years – decades even – in unexplained pain with countless medical issues, before they were properly diagnosed. Hopefully those stories will become fewer and fewer.

To learn more visit the Marfan Foundation at www.marfan.org