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One Day At A Time

Hi, I'm a 16 year old male that was diagnosed with Marfan's syndrome. Ever since I was really little(around 3-4), my parents started noticing that there were some little things that were different about me than other kids. I wasn't at the same level physically as other kids around my age, so i was referred to a neurologist. At that time, he diagnosed me with Ehlers Danlos Syndrome Type III. When my parents told me about this, i learned to accept this, and that it didnt have any really bad complications or anything. But in February of 2009, that was when my life spiraled downwards. I went to my physician for a physical for school, and he noticed that there were some abnormalities in my neurological function and my extremities. So then I was sent back to my neurologist, the same one I haven't seen for almost 12 whole years! He noticed that my chest was deformed, which was called pectus excavatum, and he took down some measurements and everything. Before I left, however, he called me back into his office and for some strange reason, he wanted to measure my arm span (I now know why he did this.) We went to get some x-rays and a CT of my chest that same day (I had severe pectus excavatum, but I had it corrected, it had gotten so severe that my organs were crowded and my heart was crushed.). A few days later, that was when we received the phone call that changed my life. At first, my parents wouldn't tell me what was wrong, and they just wanted me to look up on the internet research about Marfans Syndrome (Im fascinated by genetic disorders and the such, plan to become a doctor, so I enjoyed looking and reading about it) However, the farther i read along, the more scared I became. At that time I didn't really put 2 and 2 together, I didnt think much of it. I actually found out about it when after one of the phone calls with my doctor, my mom had written down all this stuff the doctor has said about me. And there in big letters near the top were the words: MARFAN SYNDROME. This was when I made the connection, that I had some genetic disorder and that I have been misdiagnosed my entire life. We went back to the neurologist and I was referred to a cardiologist for testing. My echocardiogram and EKG were fine that day (but as i said earlier, my heart became crushed), and he just tolod me i would have to come back occasionally for additional testing. Afterward, more and more medical problems became to surface, but I will only briefly describe them. I went to a hematologist and was diagnosed with a bleeding disorder. I go to a ENT for severe nosebleeds and TMJD. I go to a gastroenterologist for gerd, chronic liver and kidney problems, and right now, undiagnosed abdominal pain. I have been diagnosed with narcolepsy and I have a mild form of epilepsy. I am being referred to a geneticist, because my doctors think there are some other genetic disorders I have. And there is much more, but its too much to discuss, but at this time, I have a total of 13 different doctors. As of right now, what the future holds for me, I have no clue. Everyday at school, I put on a happy face and try to maintain a smile, but its so hard to pretend to keep being happy all the time. As of right now, I just have to take whatever life throws at me, one day at a time.

bdallas14 bdallas14 16-17, M 6 Responses Jan 18, 2010

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Thank you. Thank you so much be being so brave as to post your experience. I have been searching and trying to put pieces together for my son (14) and my daughter (16)who are susspected of having Marfan. You just put some final pieces to gether that our doctors have been missing. I will bring these things up to them.Thank you so much. I truely hope that you get all the answers and good treatment you need.

Hi if i was your mum i would be so proud of you you have the brains and attitudude to do what ever you choose in life im sorry you have marfans but i know you wont let it hold you back

True, very true

Hi all i can say is well done for keeping a great attitude and all the best for the future. i know that being on line isnt the same as talking face to face with some one but at least here you can put your true fellings out there.

Thanks that really helpsrologist when I go back after I have my sleep study. I have found plenty of online support groups but they aren't the same as with meeting actual people.



And I already have most of my plan figured out for college and medical school so far. I am really interested in becoming a neuro surgeon or a pediatric surgeon

Hi bdallas 14



Sounds like you've got more to deal with than i've had with my heart condition and other less serious symptoms. Also sounds like you are an incredibly strong person unwilling to let these major trials defeat you. Many people would have given in to despair for far less.



Are you aware of any support groups in your area for young people with similar health concerns ? It might help to meet and talk to people who genuinely understand how you're feeling both physically and emotionally.



You sound like you'll be a great doctor one day.