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Does anyone know if a child of a EDS type 3 could have Marfan’s, or would it be more likely the child “just” has a Marfan’s appearance and is also a type 3?
It has recently become obvious to me that my 17 y.o. son is looking more and more like he has Marfan’s (and none of my other children have this look, even though several have the signs/symptoms of EDS). He is 6’2 and his arm span is 6’4.5. He is very thin with a short torso and long legs, arms, feet and fingers. His chest has that caved in sternum look and his ribs poke out quite a bit. He is hyperflexible, has the widening scars and slow/poor wound healing. He has had one finger dislocation. Blue sclera. The list goes on and on. But the main difference between he and my other EDS kids is the arm span being longer than his height.
Is it typical that the only way they DX Marfan’s if there is no family history of it, to do an ECHO and if they find a problem then it is Marfan’s and if they don’t find a problem then it isn’t Marfan’s?
Thanks for any info you all can share with me!
It’s more likely to be “just” appearance, but always be wary. The conditions are quite related in presentation, but “the fragile tissues and skin and unstable joints found in EDS are due to faulty collagen, while the features of Marfan syndrome are due to faulty fibrillin-1 and an over-expression of TGFβ.” I’m borderline with my clinical presentation. In the end, aortic and eye problems decide whether it’s Marfan or EDS.
“Many individuals have skeletal features that are similar to Marfan syndrome, but do they not have the aortic and eye problems that are characteristic of Marfan syndrome. This is called Marfan Habitus (or Marfanoid or Marfan-like Habitus). Often the skeletal features are inherited in families and can result from mutations in the same gene that causes Marfan syndrome.”
“It is recommended that individuals with major skeletal manifestations of Marfan syndrome have a thorough evaluation for the condition, including echocardiogram and ophthalmologic examination. Continued cardiac follow-up with echocardiograms every few years is recommended.”
Thank you Maffin for your response! I was thinking with as many physical features they would at least want to do an ECHO to be sure, so your response reassures me.
I am trying to find a new pediatrician that is actually knowledgeable about EDS, and/or is willing to study up and learn to be our doctor. Got a call back from one that says she knows about EDS and willing to meet with me/us and find out what type we have and research anything she needs to. That was encouraging. I have a “meet the doctor” appt with her on Thursday. Our current pedi just looks at me blankly when I mention EDS and that EDS effects ______(fill in the blank). It is either the blank look or she just wants to send us to a specialist. My experience with specialist’s is that they don’t know much about EDS either. Have had two gastro doctors with NO knowledge whatsoever of EDS and these were older doc’s. I have a hard time wrapping my head around the apparent fact that I am the first EDS patient they have ever seen? Or is it that they just don’t care/don’t listen? When you are putting your body in someone else’s care in a surgical setting and you try and try to make them understand you are a bleeder/poor wound healer/pain meds don’t work, etc. and then they tell you later that there were bleeding issues, etc. while scratching their heads, you realize they weren’t listening to you at all. :shut:
I know, I’m preaching to the choir. Finding good doctors for us special folks is just so HARD. Or, at least it is here on the west coast.:roll:
Our healthcare is great for critical care and acute illness. If you get stabbed a few times, they’ll patch you right up and send you on your way. Dx/Rx for chronic illness, however, is sorely lacking. Maybe within our lifetime? =D
Does anyone know if a child of a EDS type 3 could have Marfan’s, or would it be more likely the child “just” has a Marfan’s appearance and is also a type 3?
It has recently become obvious to me that my 17 y.o. son is looking more and more like he has Marfan’s (and none of my other children have this look, even though several have the signs/symptoms of EDS). He is 6’2 and his arm span is 6’4.5. He is very thin with a short torso and long legs, arms, feet and fingers. His chest has that caved in sternum look and his ribs poke out quite a bit. He is hyperflexible, has the widening scars and slow/poor wound healing. He has had one finger dislocation. Blue sclera. The list goes on and on. But the main difference between he and my other EDS kids is the arm span being longer than his height.
Is it typical that the only way they DX Marfan’s if there is no family history of it, to do an ECHO and if they find a problem then it is Marfan’s and if they don’t find a problem then it isn’t Marfan’s?
Thanks for any info you all can share with me!
Hi,
I am curious about this too, I am EDS lll, only 5’3″ tall(now!) with short body, long arms and long legs, my girls are a little taller but more or less how I was at their age (average build) and both have signs of hypermobility. My son however is 6’3″, tall and thin with long arms and legs and has a few problems that made me wonder whether he was Marfan or not.
Regards
Barbara
(UK)Marfanoid appearance in Hypermobility type is not uncommon. It is also not out od the realm of possibilities that it is Marfans. A genetic test could give insight. I personally believe there is way more muddy water between EDS and Marfans than is generally accepted. I have also heard stories of “short” people having a positive genetic test for Marfans. I don’t height is necessarily a requirement for Marfans but more research needs to be done in believe.
I understand that it is possible to have both Marfans and EDS. This was explained to my by someone having ties to Hal Deitz, Clair Francomano, etc. I would deem the source from which I heard this to be reliable. I am unable to provide specific details unless I were to ask again and meticulously document what is told to me.
I understand that it is possible to have both Marfans and EDS. This was explained to my by someone having ties to Hal Deitz, Clair Francomano, etc. I would deem the source from which I heard this to be reliable. I am unable to provide specific details unless I were to ask again and meticulously document what is told to me.
Hey thank you for the info on Hal Deitz. I am familiar with some of Claire Francomano’s excellent work but not this guy. I’m just checking out his video’s, seems encouraging, should it turn out that our relatives do have Marfan.
Regards
Barbara
(UK)
Head & Neck Injury (June 2002); Mild Concussion; Post Concussion Syndrome; Postural Orthostatic Tachycardia Syndrome (POTS); Peripheral Vestibular Dysfunction; Mild Radiculopathy & Small Fibre Neuropathy (right leg & foot resp.); Partially Empty Sella (Oct 2002) Fully Blown Empty Sella (Oct 2004); Whiplash Associated Disorder (WAD); Cranio-cervical Instability (CCI) with Posterior Gliding (PG) & Cranial Settling (CS); Retroflexed Odontoid; Stretched/Elongated Brainstem; Vitamin D deficiency; Ehlers Danlos (EDS) type 111; and now Osteoarthritis!Hi Barbara,
Thanks so much for taking the time to reply. I’m so overrun by disabilities (EDS for one) and it’s been so emotionally and psychologically traumatic (of course, not to mention physically) for me that I almost always feel as though I don’t know my head from my behind. Dreadful! I’m so needy and under-educated about the complexities and dumbfounding magnitude of my rapidly declining health that I would not have imagined that I could possibly have made a diff to anyone else. I appreciate you saying what you did. It wasn’t so long ago when I was uber independent and had a life that I truly enjoyed and was quite content with – boy, am I in stark contrast to that now. Ultimately, I think that I’ll be able to ‘survive/thrive’, in whatever way my body will allow, once I am able to figure out a way to be a helpful/meaningful/competent person in whatever way God sees fit. Of course, I’ve also got the daunting task of figuring out how (my personal concoction) to manage/maintain my already ridiculously low level of physical function. Thank you, again, for letting me know about the potentially helpful info in my post. Means a LOT to me right now. God Bless.
Thanks for all the valuable input everyone! Today I go to interview a potential new pediatrician for the kids. Praying this doctor will be able/want to work with us. My doctor keeps reminding me that working with us folks with rare diseases/genetic disorders/etc. takes more work and time and that is why “most” doc’s just brush us off.
Give My Daughter The Shot,
I know what you mean! I too struggle with what has been lost, trying to find help and my personal concoction for my issues and trying to get help for my kids, on top of just the struggle of everyday life (cooking, grocery shopping, etc.). It is a hard road, but not without times of joy and meaning. Hang in there, one day at a time. :coolsmile:Hi Barbara,
Thanks so much for taking the time to reply. I’m so overrun by disabilities (EDS for one) and it’s been so emotionally and psychologically traumatic (of course, not to mention physically) for me that I almost always feel as though I don’t know my head from my behind. Dreadful! I’m so needy and under-educated about the complexities and dumbfounding magnitude of my rapidly declining health that I would not have imagined that I could possibly have made a diff to anyone else.
Hey, we all make a difference to each other, we’re a family (LOL! could be in more ways than one!). We’re all travelling down the same path, some are in front of us and some are behind us but there’s one thing for sure, we’ve all felt that level of despair you reach when your health is rapidly declining and even those in the medical fraternity who do have the decency to listen, don’t have any answers. I’m hoping all that is about to change. So, in the meantime, I send you a BIG HUG, hang on in there.
Regards
Barbara
(UK)
Head & Neck Injury (June 2002); Mild Concussion; Post Concussion Syndrome; Postural Orthostatic Tachycardia Syndrome (POTS); Peripheral Vestibular Dysfunction; Mild Radiculopathy & Small Fibre Neuropathy (right leg & foot resp.); Partially Empty Sella (Oct 2002) Fully Blown Empty Sella (Oct 2004); Whiplash Associated Disorder (WAD); Cranio-cervical Instability (CCI) with Posterior Gliding (PG) & Cranial Settling (CS); Retroflexed Odontoid; Stretched/Elongated Brainstem; Vitamin D deficiency; Ehlers Danlos (EDS) type 111; and now Osteoarthritis!
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