Discussions By Condition: Muscle conditions

Could my son have Marfans Syndrome?

Posted In: Muscle conditions 13 Replies
  • Posted By: RobinG
  • February 28, 2008
  • 04:57 PM

Hi ~ I was told by my the school nurse to ask my doc about my son having possible Marfans Syndrome ~
He is tall and thin, 5'6" and 94 lbs. He is 12.5 years old. His scoliosis is minimal, 4 degrees, he is flat footed, and the indented sternum. Complains of legs hurting alot (we thought just growing pains) and has had a murmur that has been heard on rare occassions. Is it possible to have these symptoms without it being marfans? Or are his chances of having it pretty high? His dad has sleep apnea, the very high pallete, the long toes that look like they have extra joints. I left a message with his doc to call me and I'm nervous that they will think I am just a mom who is over worried and silly to be asking and that it isnt it ~ His head is not thin, it is round actually. Would love any input ~ TX! Robin ~

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13 Replies:

  • He has all the skeletal characteristics of Marfans except for the head shape only well trained professionals can tell for sure i wouldn't worry about being labelled as an overly worried mum as you know the health of your child is much more important.Good luck Robin
    Anonymous 42789 Replies Flag this Response
  • TX so much ~ I forgot to add that my son is SO flexible ~ I always called him doubled jointed, lol. I've told many before this came up that he would make a great contortionist. Is the head shape characterisitc in all patients with it or are there different degress and some show all symptoms and some dont? Praying he doesnt have it ~ I spoke to his doc and he said if he does have it it would be many years before he has any heart concerns but what I've read online doesnt support that theory. I guess if he had it mildly that may be true ~ I plan to ask him to send hm to a cardioligist to help us confirm and put our minds at ease. I was talking to my SIL and she has a cousin who died at 9 years old from it but she was severe and she said there are some severe and some not so obvious so perhaps if he does it isnt so obvious. And his risks less ~ crossing fingers ~ He is schedule to have surgery on his wrist this month for a ganglion so hoepfully I can get him in soon. I'm going to measure his arm span today comapred to his height and see what I find out ~ TX an oodles! I think I'll post a photo of his face so you can see why the concern ~ Robin ~
    RobinG 3 Replies Flag this Response
  • This photo is of my two oldest ~ he is the older one ~ you can see his sternum here but you can see his size and head shape ~ crossing fingers XX TX again! Robin ~ http://img.photobucket.com/albums/v490/Griff252/141_4148.jpg
    RobinG 3 Replies Flag this Response
  • Hi again robin saw the photo they look like such nice kids i am busy at the moment but i will write a longer post soon wishing you lots of luck
    Anonymous 42789 Replies Flag this Response
  • TY so much :) I actually have three kids ~ My youngest is 4 months old, lol. I appreciate your help ~ I'm hoping that because he doesnt have all the characteristics he doesnt have it ~ or if he does it is very mild. I took another photo ~ this one shows his sternum ~ doc lead me to believe this was mild by saying he would just keep an eye on it ~ would you agree? TX!! Robin http://img.photobucket.com/albums/v490/Griff252/143_4360.jpg
    RobinG 3 Replies Flag this Response
  • Hello Robin, yes the indentation of his sternum does seem very mild, they say the condition is very rare, and it is important to find a doctor who knows about marfans, is there some kind of specialist you can take him to?How are his eyes, eye problems are common in marfans, i cant find out how common an abnormal head shape is.Sorry i cant help much i will keep my fingers crossed for you. i just read cardiologists treat marfans hopefully the one you are seeing can help you.There is someone who posts in this forum called midge, i think she has a website on Ehlers-Danlos syndrome which has some similarities to marfans. i am sure she would try to help you.keep in touch and good luck.
    Anonymous 42789 Replies Flag this Response
  • Dear RobinIf you are still reading this post- i would take him to the Cleveland Clinic in Ohio for evaluation. I am taking my son there. Just call Dr. Svensson's office- Google all this. Then talk to his nurse and go over your sons symptoms. My son had a lung collapse which is why we are going. Don't wait.
    Anonymous 42789 Replies Flag this Response
  • Dear Robin,My son was born with Marfan's Syndrome although we didn't know what it was until about 5 or 6 years ago, we knew there was something wrong. He has everything that you mentioned your son has. We tried for YEARS to get him diagnosed and every doctor that saw his sternum told me that it was "no big deal". Well it might not have been a big deal when he was one but it was a HUGE DEAL by the time he was in his teens. His chest started to really cave in and it was terrifying not being able to find a doctor who could help us. Thank God that we were fortunate to find a brilliant doctor at the Hospital for Crippled Children in Los Angeles, that suspected what he had and put us on the right track. He has now had two major surgeries, the first one to fix his sternum and the second one was to fix his spine because of the scoliosis. Its been a long traumatic haul but he is now 20 and doing fine. Although the hardware that they put in to fix his sternum and his back still remain, he has come a long way thanks to the brilliant surgeons that we finally were referred to. I wish that I would have known much sooner what the problem was and that's where you have a great advantage. The picture of your son looks like he is still very young. What you have to watch very closely is his sternum that it is not getting worse. It could crush his heart and lungs if it deteriorates and isn't corrected. The other thing is the scoliosis, they kept telling me that it wasn't that bad and then he had a huge growth spurt around puberty and then required surgery. I'm not sure what state you're in but I know excellent doctors who specialize in Marfan's Syndrome in Los Angeles. It's important that your son not only be followed by a Marfan's Syndrome specialist but also by cardiac and orthopedic doctors specializing in Marfan's. Good luck to you and your family. BrooklynBabiee
    BrooklynBabiee 1 Replies Flag this Response
  • Another possibility is Ehlers-Danlos Syndrome... the two are occasionally confused with eachother and EDS also can carry the sunken chest along with the hypermobility.
    Anonymous 42789 Replies Flag this Response
  • Hi Robin,I have Marfan's Syndrome actually. I was diagnosed when I was 11. I am now 21. At the time it was confirmed after I was recommended to see a cardiologist, who confirmed I have a murmur. I was at another doctor for scoliosis, who thought my height and limbs were a definite possibility of me having it. 5'6" is tall for a 12 year old boy and the rest of what you say tell me pretty definitely that he might have it. But everything seems so mild that it does not seem that he will have a hard time at all, but it is a good idea to keep his murmur checked up on.Ashley
    Anonymous 42789 Replies
    • August 25, 2009
    • 07:08 PM
    • 0
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  • Hi I have hypermobility and pectus excavatum "sunken chest" . As I type my fingers are locking and aching. I was to ashamed to tell my mother why I couldn't pass gym , until I was 17. By then my sternum was 2 inches from my spine and I had trouble breathing when I walked from class to class (in a small hick town school). I am a 24 yr old female. When my mom first saw how bad my chest was she looked it up on the net, it never said anything about marfans. Now that I am older and have 2 children I looked my condition up again (pectus excavatum which was repaired after a long debate w/ insurance that it was most definatly not cosmetic) marfans came up... I have no Idea if I have marfans or not. because my insurance and my family physician will not get me the proper tests. You should google national marfans foundation. Even if you are unsure they will send a package to you explaining all symptoms and such. They also have question and answers. They told me even though my doc thinks I am not tall enough I should go to a geneticist and they even supplied me w/ addresses and phone numbers to the ones closest to me. I want to know what is wrong w/ me so I can help my son if he needs it. He is 4 and is already showing signs of pectus excavatum, mine didn't show up till puberty and was quite severe by 17. If one doc doesn't believe get a second opinion. I also show other signs of marfans but have been denied testing or referrals by my family physician based on my height.
    Anonymous 42789 Replies
    • December 7, 2009
    • 08:11 AM
    • 0
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  • Hi I have hypermobility and pectus excavatum "sunken chest" . As I type my fingers are locking and aching. I was to ashamed to tell my mother why I couldn't pass gym , until I was 17. By then my sternum was 2 inches from my spine and I had trouble breathing when I walked from class to class (in a small hick town school). I am a 24 yr old female. When my mom first saw how bad my chest was she looked it up on the net, it never said anything about marfans. Now that I am older and have 2 children I looked my condition up again (pectus excavatum which was repaired after a long debate w/ insurance that it was most definatly not cosmetic) marfans came up... I have no Idea if I have marfans or not. because my insurance and my family physician will not get me the proper tests. You should google national marfans foundation. Even if you are unsure they will send a package to you explaining all symptoms and such. They also have question and answers. They told me even though my doc thinks I am not tall enough I should go to a geneticist and they even supplied me w/ addresses and phone numbers to the ones closest to me. I want to know what is wrong w/ me so I can help my son if he needs it. He is 4 and is already showing signs of pectus excavatum, mine didn't show up till puberty and was quite severe by 17. If one doc doesn't believe get a second opinion. I also show other signs of marfans but have been denied testing or referrals by my family physician based on my height.Hi, I just wanted to let you know that while many people with Marfans are tall, there are quite a few who are not. My own mother died of Marfan's at age 39. She was 5' 7". Extreme height is not medically necessary sign of Marfans, but pectus excavatum is!!!!
    Anonymous 42789 Replies
    • December 8, 2009
    • 03:33 AM
    • 0
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  • I just wondered if you figured out what may be going on with your son.My 10 year old son was recently diagnosed with Ehlers Danlos and his symptoms sound similar to your son's. Best of luck to you.
    Anonymous 42789 Replies
    • February 13, 2010
    • 02:49 AM
    • 0
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