Could my son have Marfans Syndrome?

[RobinG]

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 ~

[oscar77]

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

[RobinG]

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]

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/v4...2/141_4148.jpg

[oscar77]

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

[RobinG]

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/v4...2/143_4360.jpg

[oscar77]

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.

Dear Robin

If 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.

[BrooklynBabiee]

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

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.