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HAnn521
07-13-2005, 12:00 PM
Does anyone else recongnize the condition called Marfan's? Well, I believe if you haven't yet, you very well could!
After hearing that several of you have heard many times that the "average" Scoliosis patient is normally tall and thin...I recalled having Marfan's linked to my scoliosis about the time it was discovered when I was 13. In addition to my scoliosis bracing and treatment, I was sent to a Genetisist and tested for Marfan's...mostly because, as I recall, I had the perfect body type of someone with Marfan's, and having Scoliosis bumped up my chances.
I later learned that they go hand-in-hand. Luckily, I was not diagnosed with Marfan's in the end, but continue to carry characteristics of it....which I've noticed are some of the topics brought up frequently here on the forum, so some of you may want to be aware of this condition...
Characteristics to look for: Scoliosis (of course), long arm length (my arm-span is 4 1/2" longer than my height), being tall and thin (I weighed barely 100 lbs. at 14 with a height of 5' 4"), high flexibility, mild or high joint hyperextensibility (double-jointed), large palm and long fingers. Finally, an echocaridiogram is performed to indicate any heart mumurs or abnormalities, which is a symptom of Marfan's. (this being the only characteristic I did not have)...
So, I'd like to hear from others who may have had had an experience with Marfan's? or I'd be happy to add some info from my personal experience if any of you need to know more about Marfan's and it's link to Scoliosis...

Bamaro
07-14-2005, 10:05 AM
There are the same concerns with my 12 year old daughter. One doc noticed some marfan tendencies - foot reflex test, long fingers that could wrap around wrist, somewhat high palet etc. Had tests done (MRI, echo) but so far, a diagnosis of Marfans can not be confirmed. Still waiting to go to genetisist

HAnn521
07-14-2005, 10:16 AM
Realized I left out a simple definition in my first post... (I did describe it pretty well with the list of characteristics I gave)...
But this should be more helpful: The Marfan syndrome (as it is actually named) is a connective tissue disorder. Connective tissue provides substance and support to tendons, ligaments, blood vessel walls, cartilage, heart valves and many other structures. In the Marfan syndrome, the chemical makeup of the connective tissue isn't normal. As a result, many of these structures aren't as stiff as they should be.

The Marfan syndrome is inherited and affects many parts of the body. There's no single conclusive test for diagnosing it, but people who have it often have many similar traits. Besides perhaps having heart problems, people with the Marfan syndrome are often tall and thin. They also may have slender, tapering fingers, long arms and legs, curvature of the spine and eye problems(which I left out earlier, and I have also had glasses/contacts since childhood). Sometimes the Marfan syndrome is so mild that few (if any) symptoms exist. In the most severe cases, which are rare, life-threatening problems may occur at any age.
Also, try this link to read more about Marfan's and Scoliosis:
http://www.scoliosisassociates.com/...pn=practice1030

Added note: I did just realize that there have been posts on this subject before, so perhaps do a search for those also...

mzl
07-21-2005, 10:25 PM
There is actually a great deal of research and information available about Marfan's Syndrome. Yes, Scoliosis is indeed one of many possible characteristics of Marfans syndrome, as are: high palate, pectus excavatum, hyper-flexibility, double jointedness, long arm span, long tapering fingers, long jawbone, possible subluxation of the lenses of the eyes, possible enlargement of the Aortic Root, etcetera, etcetera, etcetera. There are genetic studies being conducted to see if there is a correlation of this syndrome (or collection of characteristics) with a specific gene. I believe that they are as of yet not completely conclusive. You can "google" this and look at the websites in existence. It would be interesting to see what correlations do exist between scoliosis patients and those with Marfans characteristics or syndrome. I once did a search to see if there was much information on both, but was not able to find enough to explain anything. Of course: research requires funding, and a need for such... an interesting tidbit: Abraham Lincoln was said to have had Marfan's ... I wouldn't call it a disease, though... it is a syndrome... a collection of physical characteristics which statistically tend to occur together.

BeachinIt66
07-22-2005, 10:30 AM
okay so i have shortness of breathe sometimes ive noticed, im 5'9.5 and slender, my one rib i think is protruding outward more then the other, and obviously scoliosis--could i have it? my dr has never at all mentioned it..

Littleone1016
07-25-2005, 08:26 PM
many of those symptoms also can relate to a neuro muscular disorder called Charcot Marie Tooth. There is the link if anyone is interested in finding more information about CMT. http://www.charcot-marie-tooth.org

BeachinIt66
07-30-2005, 06:51 PM
so you think it may be a neuro muscular disorder? im so scared are you serious? is it anything i should be worried about?

mzl
07-30-2005, 11:12 PM
I see where this is leading, and it is making me uneasy. With all due respect: I think that people need to gain a better understanding of Marfans before deciding that they or their children "have it". There is no cause for panic!!! PLEASE GO TO THE NATIONAL MARFAN FOUNDATION WEBSITE
: WWW.MARFAN.ORG before blowing this all out of proportion! And please, consult with a physician if you have any questions about yourself or your child!

There are many people with Marfans characteristics who do not have scoliosis, and there are many people with scoliosis who do not have Marfans syndrome, and there are those with Marfans characteristics but NOT with Marfans syndrome... !!! It's not as clear-cut as having scoliosis or not having scoliosis. The only good thing about the "characteristics" being delineated, is that you have the ability to monitor your aortic root and ocular lenses at an early age just in case there IS presence of Marfans. Many people do NOT have complications of this sort. Do not panic!!

HAnn521
08-01-2005, 09:52 AM
My purpose for starting this thread was primarily to ask if anyone had heard of Marfan's before during their visits to the doctor for Scoliosis. It is DEFINATELY not a given that anyone with Scoliosis has Marfan's...as I stated before, after I was examined by a Genetisist, we ditermined that I have many of the characteristics, but do not have Marfan's at all. Aside from having long fingers, being tall and thin, wearing glasses, and having Scoliosis I am far from having Marfan's.
Please do not take my post as a warning that you most likely have this condition!! I did not mean to cause panic....I was simply introducing the condition to see if anyone else had come into contact with it like me...to see if anyone had had a similar situation with it...and I think that some of the parents with children (like I was at 13) may come into contact with a situation like mine, this way, they have heard from someone who has already personally experienced it...but did not have it!
Hang in there Beachin, if your seeing a good physician, they'll take good care of you! :)

rcsmith
02-10-2008, 04:21 AM
our daugther has Marfan syndrome... and has just had growth rods inserted to correct her scoliosis...

http://uk.youtube.com/watch?v=KANauFWe8y8

The Slice
02-11-2008, 05:39 AM
HAnn, I would seriously think about the possibily/feasibility of surgery sooner rather than later. It's going to be a lot easier to tolerate the surgery and recovery now than it will be 30 or 40 years from now (or more). The problem is that while your curves are stable now, they may not be stable later in life, and when it comes to the point where surgery is necessary because of back pain, or comprimises to your heart or lungs. I don't know enough about Marfan's, and it seems like you've done a fair bit of research on it, I am skeptical of this genetic study ruling out that you have Marfan's. If it walks like a duck, quacks like a duck......... I would consider regular screening for aortic stenosis.

As you wrote yourself: "There's no single conclusive test for diagnosing it,". If that's true, how can genetic testing rule it in or out? I'm not at all challenging what information you have put forth, but perhaps giving you a different perspective and something to consider. I wish you the best.