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.

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