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24 'Hidden' Symptoms of Living With Marfan Syndrome

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Marfan syndrome is a genetic condition that affects the body’s connective tissue, which helps to hold the cells, organs and tissue together – impacting growth and development. Approximately one in 5,000 people have Marfan and 75 percent of people inherit the condition from a parent. The rest are the result of spontaneous mutations.

People living with Marfan syndrome have a range of features, including hypermobility of the joints, curvature of the spine, long legs, arms and fingers, and crowded teeth. Marfan can also affect the eyes and lungs. The most life-threatening part of Marfan is its effect on the heart and blood vessels, which is why diagnosis and treatment is so important.

While each person is affected differently, it is important to raise awareness about the outward signs of Marfan to help increase the chances for early diagnosis. The Marfan Foundation, an organization funding research, raising awareness, and providing support to people and families with Marfan and related conditions, estimates that nearly half of the people who have Marfan syndrome don’t yet have a diagnosis.

In honor of Marfan Syndrome Awareness Month this February, The Mighty collaborated with The Marfan Foundation to ask our communities: “What’s one ‘hidden’ symptom of living with Marfan syndrome?”

Here’s what they told us:

  1. “People don’t realize I have to explain to friends and family that the ability to get up, get yourself cleaned and dressed for the day was all the energy you were allotted for the day.” – Karen B.
  2. “Dural ectasia (the widening of the dural sac in the spinal cord). I get too many ‘pain in the butt’ jokes, and not enough understanding of the misery of being unable to sit without pain.” –@bassett5fe_ruth
  3. “I wouldn’t call it a hidden ‘sign’ of Marfan, but more of an invisible side effect: the anxiety after surviving a dissection. You feel betrayed by your own body, and over analyze every ping, pang and twinge of pain thereafter. I joked with my husband that it felt like like I was moving through the stages of grief over my pre-dissection life (sadness, anger, bargaining, acceptance), but it really felt that way and it was hard for others to understand.” – Dawn S.
  4. “My 5-year-old is so much taller than her peers that she’s often mistaken for an older child –which comes with the expectation of an older child’s maturity.” — Stephanie H.
  5. “The large amount of time and physical/emotional energy I spent interacting with healthcare providers and the rigor it takes to maintain my health. It’s enough time to earn a degree, become proficient at a new skill, or connect with new and fulfilling communities. And for me, that opportunity is lost.” – Christopher H.
  6. “I experience random joint dislocations and subluxations (sometimes just from sleeping). There’s constant pain, just at lower or higher levels. There’s dysautonomia, digestion issues… anxiety. There’s exhaustion, yet also a lack of sleep from dealing with all of these things and the accompanying medical appointments.” – Michelle H.
  7. “For my 5-year-old son, it would be his enlarged aorta, and three loose/floppy heart valves causing tiredness. This explains his nap schedule and behavior (acting out when he’s sleepy), which no one ever understands.” – Brandi S.
  8. “There’s a high level of pain with Marfan that can feel razor sharp — enough to make one stop dead in their tracks and gasp. Yet, we’ve learned to bury the pain, put on a false smile and carry on as though nothing is wrong. And, people wonder why we are not always bubbly. Let’s not forget the inner burning sensation of our long bones where the ligaments attach to the bone. I cannot find words to describe what level of pain that this feels like. No medication except morphine can reduce it to a dull ache.” – Joyce M.
  9. “My husband, John, died on October 11, 2018, and he always said the loneliness was the greatest pain of all. It’s being misunderstood and left out.” – Mary H.
  10. “The daily muscle and joint pain can worsen with stress, daily activity, new activities, etc. When others complain about headaches, aches and pains or muscle pulls, I feel we can empathize. But we also have a completely different perspective on it. We live and work through daily pain every day of our lives.” – Heather A.
  11. “My daughter’s battle with anxiety. She is 8.” – Sarah S.
  12. “It’s wanting others to understand how painful and difficult everyday tasks can be for me that are easy for them. A little bit of patience, understanding or small accommodations like just checking in on me goes a long way.” – Skully S.
  13. “The consistent fatigue, this has been ongoing since I was a child. I just get tired very easily and I have to put more effort into ordinary day to day activities, which people usually fail to understand. Others perceive me to be lazy. You feel you always need to provide justification, since you are in a state where you feel you are not really sick, but also never truly healthy, as a normal person would be. Unfortunately, MFS caused me to be bullied and affected my confidence. Still, I have learned to listen to my body more and not be ashamed.” – Soha S.
  14. “I have both pectus excavatum and pectus carinatum. It’s not noticeable unless some runs their hands across my chest. That’s mostly why I avoid physical contact with others.” –Braunzoe
  15. “Many people don’t believe the very real pain of dural ectasia, since it can’t be seen. They claim it’s all in your head.” – Haley D.
  16. “The physical back pain and being easily fatigued really hit me hard. I am an extra busy girl and wear a corset during the day to help straighten my posture some so my back doesn’t hurt all day, which helps to an extent.” — @Ladyaleister
  17. “I have pain from the curvature of my toes and constant back ache from scoliosis of my spine. People don’t see the numerous times I’ve found myself under the knife for another reconstruction surgery, and most importantly, they never saw how frightened I was to explain all of my physical anomalies growing up.” — @CerebralPalsyShredder
  18. “An aortic dissection is the most life-threatening thing that can happen to someone with Marfan syndrome. If someone doesn’t know they have Marfan, then they don’t know the importance of having their heart checked regularly. They can have an aortic dissection and be easily misdiagnosed by a doctor if they aren’t aware of the presence of MFS.” — @Marfanladynath
  19. “You develop a pretty wicked sense of humor… you have to. If I have to choose between laughing or crying, I’m going to laugh until I cry. We have a strong empathy for others. I feel my loved ones’ joys and pain.” – @Catzeye6886
  20. “I have an aortic dissection that was partially repaired, scoliosis, spondylisthesis, dural ectasia and a bulging disc that has caused me chronic pain. Not to mention the constant fatigue that I have to hide while I’m at work or the aches in my joints.” – @Ohnoitsbitty
  21. “First, they don’t see the pain. They don’t see the heart disease, aneurysm, osteoporosis, hyperlaxity and vasculitis. It’s a hidden disease. Generally when I tell others, they respond, ‘Oh, really? You look good and healthy. Are you sure you are sick?’” — @Paccotille
  22. “The simple wear and tear from life that doesn’t heal the same as others. I seem to have the same lack of elasticity in my arms, legs, hips etc. as in my heart valves and aorta. The harder I use them over time, the less strength and ability I have.” — @eveofdestruction
  23. I have difficulty with fine motor skills, like gripping a pencil. I also have anxiety and depression, and have experienced bullying due to physical appearance.” — Karyn F.
  24. “What most people don’t see is that individuals affected by Marfan syndrome have a very old and wise soul, and they are much more spiritually evolved. They [can] teach those around them life lessons about living life to the fullest with what you’ve got, being the best they can be without wishing to be someone else, and living in the present without fear of the unknown. They have to be ‘OK’ with whatever new pain and challenges may come, and embrace the chaos and life they were given. They inspire others with the strength of their beautiful spirit, fighting Marfan with a strong body and mind.” — Suely J.

Do you live with Marfan syndrome? What’s one ‘hidden’ symptom you experience? Let us know in the comments below.

Originally published: February 22, 2019
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