Discussions By Condition: Bone conditions

Son has Marfan's Syndrome

Posted In: Bone conditions 19 Replies
  • Posted By: Anonymous
  • June 9, 2006
  • 04:56 AM

Hello,
I just found this web site this evening while searching for something else on the net.

My son was diagnosed with Marfan's Syndrome about6-8 months ago. We have not gone to do genetic testing yet so we dont know where he gets this from, me or his father or if it was a genetic accident. I am adopted, no known birth info yet.

I just wondered if there was anyone else out there with similar things going on in their family.

Hope to chat soon!

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19 Replies:

  • Hello!May I ask, how old is your son? How did you first get an inkling that he might have Marfan, or did his doctor tell you?The reason I ask is that I have a 6 year old son who has many Marfan characteristics -- though at this point he isn't overly tall. I have been gathering information when I noticed that his chest was starting to cave in, (that on top of a buch of other characteristics got me looking on-line) and I'm just kind of waiting for his next check up because I don't want to jump conclusions. The National Marfan Association http://www.marfan.org/nmf/index.jsp has been wonderful in providing me information, and also suggested we get tested for Loeys-Dietz (he was born with a very long and narrow head, which we attributed to breech position and corrected with a molding helmet). Loeys-Dietz has a definite genetic marker -- unfortunately, Marfan doesn't quite -- it is on the 15th Chromosome, but it could be any number of areas on the gene unless there are others in the family who also have characteristics. That's one reason I haven't gone to the pediatrician yet. He's got several minor skeletal characteristics, but I'm not sure he has a "major" characteristic (at this time). My husband is also adopted -- but we do have contact with his birth mother, so I have asked her some questions about characteristics, just to see if there is possibly a genetic link -- though I'm thinking if he has it, it's probably a spontaneous mutation. I just sent her the information, so it may be some time before she gets back to me.Anyway, I was looking around, and found this forum. Hope to hear from you soon.Kali
    Anonymous 42789 Replies Flag this Response
  • hello.I was reading your email and it srtuck a cord with me.My son as pectus exevatum,mild scoliosis,lon limbs,stretch marks and is tall.He as been under the hospital were one doctor said he had marfans and the rest said he did not.This worries me now because it as not been diagnosed,he is suffering with pain in his shoulders and neck and i don't know what to do for him.He is 16 and fed up with being in pain all the time.Do you think he really could have marfans and would it be dangerous if left undiagnosed,I have took him to the doctors,but they say they can't do anything for him as it's his posture that is causing the pain.Please let me know what you think.
    Anonymous 42789 Replies
    • September 19, 2006
    • 05:57 PM
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  • echanceI posted above on your other question, but I really think that an evaluation with a doctor familiar with Marfan will benefit your son. There are so many unknowns with this syndrome, things that regular check ups don't pick up. There are also a lot of variations with the sydrome, which means that some people won't have all of the characteristics, but may still have Marfan.Marfan is seen as "rare" -- and so a lot of doctors discount it -- "a lot of people have this, that, not an issue, etc." but if they don't order an echocardiogram (especially by the time the child is a teenager), then, (in only my opinion, but from what I've learned so far), they don't know enough about the syndrome and shouldn't be discounting the possibility. Additionally, because of this, it might not be as rare as once thought (it used be seen as 1 in 10,000 -- recently I've seen this adjusted to 1 in 5,000 or even 3,000).How is his height/to wingspan (stand next to wall, arms outstretched measure middle finger to middle finger and compare that with height). My little guy (6yrs) is equal in this measurement right now. As a comparison I'm about an inch shorter in my wingspan. It's just another thing I'm "putting in my basket" . Can your stand and try to touch his elbows behind his back? Is he really loose in any of his joints? Those are also charateristics.Please let us know how things are going.
    Anonymous 42789 Replies
    • September 20, 2006
    • 00:04 PM
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  • Hello enhance..My son too has (had) pectus excavatum. over this summer he had the surgery to correct his chest. He was also diagnosed with "Endler Danlos Syndrome". Now recently, he might possibly have the "Morfanoid Syndrome"which I never heard off. Did your son have the same thing? My son is 15, he has low muscle tone and very under weight. He is almost 5'10 at only 94#'s. We are working on his upper body at the moment to develope his upper body. And he also needs a 3,000 calerie diet a day. He is not adopted, nor were me and my husband. There's no problem with any of our genetics in either side of our families. So this is rare to us. He also had no pain in his joints either. It's very confussing when you hear differant thing from the doctors. They all seem to have their own diagnosis. I"m just looking for some similarity's. I hope I can get a chance to talk with you, I will check this site out periodicly from time to time. Hope to talk to you soon..
    Anonymous 42789 Replies
    • September 24, 2006
    • 01:17 PM
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  • Hi Katscats3, this is Kali:How is your son doing since the surgery? I hope things went well.What kind of surgery did he have (the Nuss, the Ravitch or something different?) Did he have an echocardiogram during any of the tests he took prior to the surgery? How are his eyes? Did anyone suggest an eye test to look for dislocated lens?The "Marfanoid" Sydrome may be the doctor saying he has many characteristics like Marfan, but doesn't have Marfan -- or he may be saying it might be Marfan.Check here http://www.marfan.org/nmf/GetContentRequestHandler.do?menu_item_id=4 for characteristicshere for diagnostic characteristicshttp://www.marfan.org/nmf/GetContentRequestHandler.do?menu_item_id=3and here for related disorders.http://www.marfan.org/nmf/GetContentRequestHandler.do?menu_item_id=78if you can, you might want to find a doctor with familiarity with Marfan just for an evaluation if nothing else. The trouble with Marfan is that it occurs at various places on the gene -- and it might not show *all* of the characteristics that people associate with it. That's what makes it so hard to diagnose (especially when doctors are not looking specifically for it, since it is deemed "rare"). Additionally -- there are cross-characteristics that touch other connective tissue disorders (such as Ehlers-Danos and Loeys-Dietz, among others...) which makes diagnosis hard sometimes.hope this helps a little. Take Care.Kali
    Anonymous 42789 Replies
    • September 25, 2006
    • 00:16 PM
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  • My husband has marfans and was only diagnosed after his fater passed away from an aortic disection. To me it sounds like you are describing my husband to a "t". If you havent found anything out as of yet I really think that you should find a doc that knows a little something about it. Does your son have any eye problems? I knew little to nothing about Marfan's until I was in High school and had to do a genetics project and then meeting my husband I learn more everyday. If you have one at a hospital near you, I would suggest that you make an appointment with a genetics councler they can do what they can to tell you if your son has it or not. There is no like blood tests or anything they can do. I asked so many questions since its genetic and my children could have it. But I was told that even if my children dont have the same signs my husband does that they could have another form of it. It can mutate and there is no real way to tell until they are older to rule it out completely. I did get lucky with my first child, he is showing no signs of it and hopefully my second will be the same way, but until its born we wont know for sure. I hope that you can find some help in your search.
    Anonymous 42789 Replies
    • February 2, 2007
    • 05:04 PM
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  • I have had a doctor tell me my son has Marfan. I went to the genetic center at Ucla and they told me he does not fit the criteria for the genetic test. I had several eco's done on him and he is fine. Now Ucla want me to genetic test for Ehlers Danlos syndrome. I am reluctant because the only symptom he has in hypermobility in his upper body. He is skinny but not extremely tall he is equally balanced on his arms and legs. IHe does not have a problem bruising or healing. His skin does not stretch. I am so confused. He is 12 years old and has pain in his stomach at times and gets hot easily. He has a ear that drains dark ear wax. His eyes are fine. He did have surgury for flat feet. Has anyone ever heard about the ear wax being dark and draining excessive.Kim
    Anonymous 42789 Replies
    • February 28, 2007
    • 03:40 AM
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  • Hi Kim, There are several types of Ehlers Danlos syndrome and the symptoms can overlap one condition to the next even mimicking Marfans Syndrome. In some people the condition is not very noticeable until much older and if diagnosed when young and managed well it can sometimes be kept under control and not become too disabling. I would suggest going for the tests the doctor’s recommended.
    Anonymous 42789 Replies Flag this Response
  • My son was diagnosed with Ehlers-Danlos Syndrome, Hypermobility Type on January 31st, 2007. In the summer he started showing me extremely hypermobile joints (especially shoulders and wrists). When he was evaluated (had an echocardiogram and evaluation on the same day), Dr. Stretched his skin (something I didn't know he could do), and showed me a few other characteristics I didn't clue in on because he has never had excessive bruising, and any scratches, etc. he's had heal in a typical way. Since that dx, he's had some other issues -- some pretty intense joint pain issues, too. With this dx, I at least understood a little about what was happening. There are 6 types of EDS -- and there are a lot of crossovers from other connective tissue issues, so if anyone is wondering, I would suggest to get your child evaluated with a doctor familar with more than one connective tissue disorder. much peace.Kali
    Anonymous 42789 Replies Flag this Response
  • I recently noticed that my daughter had stretch marks going up her spine. She is extremely tall and thin, but has been diagnosed with scoliosis years ago. I researched "stretch marks" on the lower back of a young teenage girl and found Marfan's quite accidentally online. I was mortified. She has so many of the symptoms. The geneticist cannot see her for THREE months. I am getting a cardiology consult today and an opthalmology exam in two weeks. She does have one side of her chest bones that stick out further than the other also. Does anyone know if Marfans Syndrome is a progressively debilitating disease?
    Anonymous 42789 Replies Flag this Response
  • I hope you've had time to go to the National Marfan Association website to get information. ( http://www.marfan.org/nmf/index.jsp ) It's very possible that she doesn't have it at all, but it's good that you are getting the information you need to be informed at the appointments you have set up. They have a link to ask questions, and a nurse who is versed in Marfan will help direct you to where you need to gather information. They also sent me a bunch of information when I was just in my fact-finding mode. It's good that you are being proactive with the cardiology exam -- just getting a baseline is the most important thing. Depending on her age, and if they feel that she has Marfan, or is suspected to have a different connective tissue disorder, they may schedule another exam every year, or they may skip a year or two between. Because connective tissue is throughout our entire body, Marfan (and EDS (Ehlers-Danlos Syndrome)) are degenerative, BUT, every person is affected in a different way. It does help to be proactive (protect joints, etc.) and keep nutrition in mind (some people with Marfan have been found to be low in some minerals, etc. -- but again, this isn't necessarily the case with all who have Marfan). Things you need to watch out for, if she does end up having Marfan or another connective tissue disorder are surgery, dental work, anesthesia -- people with connective tissue disorders can get all of these things, but the doctors who perform the actions really need to know more about the disorder than "they studied it" in school. I hope you are able to find the information you want, and are able to get the resources you need. Let us know how things are going...Take care.Kali
    Anonymous 42789 Replies Flag this Response
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  • I recently noticed that my daughter had stretch marks going up her spine. She is extremely tall and thin, but has been diagnosed with scoliosis years agoThey are very common symptoms in Ehlers Danlos too. As I said in a previous post these connective tissue disorders have a habit of crossing symptoms. If you type into a search engine Ehlers danlos and stretch marks you will find many results pop up the same as it did with Marfans. I hope you manage to get your appointments through soon. The Marfans support groups will help all they can with any questions you need answering
    Anonymous 42789 Replies Flag this Response
  • I am a nurse and my cousin has marfans. she is a female which is extremely rare. she has twin daughters. both have ALOT of the characteristics of marfans yet the doctors say they are not sure if they really have it. to me it is totally obvious since the taller one is 9 years old and 5 foot 5 and 120 lbs. she wears women size 9 shoes(flat-footed), had a hernia,broke her femur, and has a curved roof of her mouth. The mother has every problem in the book also, she is 6'2, flat footed, anemic, aortic dissection, eye problems stretch marks, hernia, multiple broken bones etc etc. the crazy part is she was not diagnosed till she was 28 and broke her pelvic bone. a year later she also broke her hip. all this just goes to show how LITTLe the doctors really know. good luck to everyone searching for answers to this mysterious syndrome
    Anonymous 42789 Replies
    • August 29, 2007
    • 11:06 PM
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  • Hi, I am new to this site. My son has pectus excavatum. Was born with this actually and has had two surgeries to correct it. He had one when He was 4 yrs old (Ravitch procedure) and another in Jan of 2007 at 14yrs. (Nuss procedure) In getting ready for this surgery and seeing the specialists to clear him for the surgery, Marfans syndrome has come up. First as I was googling and upon asking questions to the doctors, ie; cardiologist and also the pulmonologist it was strongly suggested we see a genetesist. While his cardio checked out fine, he does have many of the other physical symptoms. It is my understanding that only a genetesist can give this diag, Is this true? And has anyone else had this experience. Also my son has thoracic dystrophy we have been told was caused by the Ravitch at an early age.
    pectus mom 3 Replies
    • September 3, 2007
    • 02:22 AM
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  • hello i feel that its worth getting him tested. My Grandfther died at the young age of 34, he was 6'9, in 1955. Back then they told my grandmother (then a single mother of an 11yr old and my father then only 2yr old) "that the top hart if his heart blow off." In 1993 then at the age 41yr old, 6'3 tall and around 230 lb, my father had to under go emergency open heart surgery. He had a aneurysm of the aortic arch. they had to take his body in to hyothermia. luckly he made it through it and told us he had marfan sydrome. In 2003, he under went another surgey to repair a thoracic aortic aneurysm. He made it through it fine. We though our battle mite be over untill..... Oct of 2006 my 34 yr old 6'll and 220 lb. older brother under went again emergency surgey to repair a aortic aneurysm. now not ever 1 yr later we travel from home in North alabama go to St. louis, Mo next week to meet with another surgeon he now has a thoracic-abdomial aortic aneurysm. The point is when my brother was 16 he was tested for marfans and said he was okay at that time but he need to be checked later. when my father had both of his surgerys he was told again to be tested and he didn't. Now he has a 15 yr old son who is 6'5. and has the charastics of marfans and hes big tested. Please Don't wait till it has to be an emergency to have your child checked. I almost lost my father and brother to this. my father also has another aneurysm that is being watches so this will never end in my family. I have a4 yr old son and a6 yr old daughter and they are giong to be checked just so i can sleep better knowing i'm doing everthingto protected them.
    Anonymous 42789 Replies
    • October 14, 2007
    • 08:35 PM
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  • Kim, Could you please let me know the names of the doctors you are dealing with at UCLA? I am 30 and have been unofficially diagnosed with Marfans and need to switch doctors. I am trying to figure out if UCLA is knowledgeable enough.Thank you!-Erik-
    Anonymous 42789 Replies
    • January 15, 2008
    • 06:58 PM
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  • My daughter was just diagnosed with Marfans at age 27. During the six years she was in the Navy nobody discovered it and all the years she went to a pediatrician he never noticed it although she was extremely tall for her age. She is now 6'1" and weighs about 125 soaking wet. She had a lot of pain growing up and the pediatrician said it was growing pains and that she might have "elephant syndrome". She too has stretch marks and problems with her joints and an irregular heartbeat. She is going to have an echocardiogram in a week or so. I am really concerned that she won't be able to have children because she wants a house full so badly. Her sister has even offered to carry a child for her if she cannot safely have one on her own. As a parent I don't know how to deal with this. From what I understand, there are some treatments but no cure. As for where she got it from, I was adopted, but she has an aunt who has the same build as her on her father's side and her father has heart problems. At any rate, it really doesn't matter how she got it, I would just love it if there were a cure for it.
    Anonymous 42789 Replies Flag this Response
  • Hello,I just found this web site this evening while searching for something else on the net.My son was diagnosed with Marfan's Syndrome about6-8 months ago. We have not gone to do genetic testing yet so we dont know where he gets this from, me or his father or if it was a genetic accident. I am adopted, no known birth info yet.I just wondered if there was anyone else out there with similar things going on in their family. Hope to chat soon!My 19 year old daughter has every Marfan characteristic, but has not had the genetic testing. Her echocardiogram was negative, but I understand that can change at any time, and it is advised she get tested yearly for signs of aortic enlargement. There is a Marfan site that should give you all the information you need about the disorder. As for inheritance, the belief is that it is a random event, but from what I have learned, I belive their is a genetic component. My father had Marfan characteristics, but was not tall. My daughter is almost six feet, and weighs 123 lbs. That is typical for Marfan's. Not everyone with the disorder suffers from aortic problems, so I keep hoping it won't show up on her. My advice is to learn as much as you can and find a specialist. There aren't many.
    Anonymous 42789 Replies
    • October 30, 2008
    • 04:09 AM
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  • I am a 17 year old boy, fedup with the pain..it's literally EVERYWHERE...I feel weak and my joints ache..every motion is uncomfortable..I really want to work out to build myself up..what gym exercises can i do to facilitate this? I would really appreciate help and suggestions..I've consulted seven doctors, all unfamiliar with it and dismissed it as "rare" and they did not help at all..thank you..
    Anonymous 42789 Replies Flag this Response
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