Discussions By Condition: Medical Stories

I think I may have Marfan Syndrome

Posted In: Medical Stories 4 Replies
  • Posted By: ashfire777
  • July 16, 2007
  • 10:29 PM

Hi, my name is Ash. I am 30 years old and I had never heard of Marfan Syndrome until about 3 weeks ago. I was talking to an orthopedist about my scoliosis and he said I look like someone with this syndrome.

My symptoms include:
Pectus Exavatum (I had surgery for that 15 years ago)
Tall and skinny (6' 4", 140lbs)
Disproportionate arms & legs compared to my torso
Legally blind (I have had corrective lens since I was 13)
Collapsed Lung (got pneumonia when I was 5 years old)
Scoliosis (45 degree curve)
Asthma & Emphesyma (I don't smoke!)

However, there are several symptoms I don't exhibit such as stretch marks, flat feet, and crowded teeth. I have been having random chest pains more frequently the last few months and knowing now the severity of this syndome on the heart, I am getting concerned and anxious. I have an appointment with my Primary Care Physician next week to discuss all of this.

Any and all info you can give me would be greatly appreciated...

Thanking you in advance,
Ash

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4 Replies:

  • Hi. I am the mother of a 14 year old in close to your same situation. I am also a nurse. I am wondering what procedure you had for your excavatum. Also I would offer you some knowledge I have gained regarding marfans as my son is being evaluated for this syndrome later this week. It is my understanding a genetecist must diagnose marfans. My advice would be to have your pcp refer you to one regardless of his findings. Marfans is extremely hard to diagnose and many areas must be evaluated. Eyes, heart, as well as family history, and physical looks. You must have at least 2 body systems affected. Once again I would love to know the procedure you had as my son is experiencing problems from one of the procedures.
    pectus mom 3 Replies
    • September 5, 2007
    • 02:10 AM
    • 0
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  • Hi. I am the mother of a 14 year old in close to your same situation. I am also a nurse. I am wondering what procedure you had for your excavatum. Also I would offer you some knowledge I have gained regarding marfans as my son is being evaluated for this syndrome later this week. It is my understanding a genetecist must diagnose marfans. My advice would be to have your pcp refer you to one regardless of his findings. Marfans is extremely hard to diagnose and many areas must be evaluated. Eyes, heart, as well as family history, and physical looks. You must have at least 2 body systems affected. Once again I would love to know the procedure you had as my son is experiencing problems from one of the procedures. Hello. All I can remember about my surgery is it was called Pectus Excavatum Surgery. Basically, they broke my sternum, took out my ribs, and placed them back appropriately with a metal rod to hold them in place. They later removed the bar once the bones had healed. I know it sounds trite but that's how they explained it to a 15 year old kid. I don't remember a whole lot about it since it was 15 years ago.... So far I have had my eye exam and they said my lens is in place as it should be. My orthopedist says my skeletal structure is a typical Marfan case and I went to a cardiologist to see if there was any rips in my aortic(sp) valve (the cardioligist couldn't see the heart well enough so they have to go in through the mouth to see it better.) That's what I know so far. I will be going in for Spinal Fusion Surgery within the next month. Thanks for answering my inquiry.
    ashfire777 1 Replies
    • September 7, 2007
    • 04:53 PM
    • 0
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  • Thanks for answering about the surgery. I believe you had the Ravitch procedure. I took my son to a genetesist tody about the Marfans. The doctor felt he had enough symptoms to warrent the DNA testing, so they drew blood to check for an abnormality in the chromosome believed to cause Marfans. His heart at this point is fine and we will check the eyes soon. You should see a genetesist regardless of how your heart checks out. Also, are you having the spinal fusion for scoliosis? We will be facing that for my son in the very near future. Thanks for your reply
    pectus mom 3 Replies
    • September 8, 2007
    • 01:12 AM
    • 0
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  • Thanks for answering about the surgery. I believe you had the Ravitch procedure. I took my son to a genetesist tody about the Marfans. The doctor felt he had enough symptoms to warrent the DNA testing, so they drew blood to check for an abnormality in the chromosome believed to cause Marfans. His heart at this point is fine and we will check the eyes soon. You should see a genetesist regardless of how your heart checks out. Also, are you having the spinal fusion for scoliosis? We will be facing that for my son in the very near future. Thanks for your replyYes, I am having Spinal Fusion for Scoliosis. Right now I have a 45 degree curve and it continues to worsen 1 more degree every year. Please keep me posted on your son's diagnosis, I am very curious to see if he has marfan or not....Thanks again
    Anonymous 42789 Replies
    • September 9, 2007
    • 02:12 PM
    • 0
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