Son has Marfan's Syndrome

[marfanmom]

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!

[Kali]

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

[echance]

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.

[Kali]

echance

I 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.

[katscats3]

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..

[Kali]

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/GetContent...menu_item_id=4 for characteristics

here for diagnostic characteristics
http://www.marfan.org/nmf/GetContent...menu_item_id=3

and here for related disorders.
http://www.marfan.org/nmf/GetContent...enu_item_id=78

if 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

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.

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

[Midge]

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.

[Kali]

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