marfan syndrome, friend just been diagnosed, how can i be reassuring?
454894
Find all the information you can about it that will show he can still live a productive life. Since it's a genetic disorder, does he have any relatives with it? More specifically parents? Are they still living. If so, you could perhaps point to them and remind him that they are still alive. Also, he is lucky it was discovered BEFORE he died of it. As long as they keep an eye on his heart and aorta, chances are very good for him. Did they start him on a beta blocker? The problem with that medication is sometimes it can cause depression. So, that will compound his worry over his condition. \n\nCheck out this website which I think is the BEST website about Marfan's. This is by a woman who has it. (Also her brother has it, and her father had it.) I think he will find encouragement there. Yes, people used to die from Marfan's in their 30s, but that was before they had treatment for it. \n\nI think you are a good friend to want to help your friend that way. Best of luck. I hope this helps.\n\nhttp://www.io.com/~cortese/marfan/
314205
I can assure you that this was one of the first things he discussed with his doctor. Have you told him about your worries? Talk to his (or your) doctor about it if he's sensitive but I'm sure you have absolutely nothing to worry about. The only way it could would be if he still had a serious spinal injury, and then he'd still be in the hospital. This video should help allay your worries... and no, it's not a dirty movie boys, it's a documentary article.
229972
to be honest, I'm not sure, but i have had experience with dealing with a close relative with pancreatic cancer, so feel free to get in touch to chat, on sproutly.chick@virgin.net
537857
hi .. instead of getting useless worries why not have some simple knowledge about it .. \n\nSTROKE IDENTIFICATION: \n\nMy friend sent this to me and encouraged me to post it and spread the word, I agreed. If everyone can remember something this simple, we could save some folks. Seriously. please read: \n\nDuring a BBQ, a friend stumbled and took a little fall - she assured everyone that she was fine (they offered to call paramedics) and just tripped over a brick because of her new shoes. They got her cleaned up and got her a new plate of food - while she appeared a bit shaken up, Ingrid went about enjoying herself the rest of the afternoon. Ingrid's husband called later saying that his wife had been taken to the hospital and passed away. She had suffered a stroke at the BBQ. Had they known how to identify the signs of a stroke, perhaps Ingrid would be with us today. Some stroke victims don't die, they end up in a helpless, hopeless condition instead. \n\nIt only takes a minute to read this... \n\nA neurologist says that if he can get to a stroke victim within three hours he can totally reverse the effects of a stroke . . . totally. He said the trick was having a stroke recognized, diagnosed and then getting the patient medically cared for within three hours, which is tough. \n\nRECOGNIZING A STROKE \n\nThank God for the sense to remember the "3" steps. \n\nRead and Learn! \n\nSometimes symptoms of a stroke are difficult to identify. Unfortunately, the lack of awareness spells disaster. The stroke victim may suffer severe brain damage when people nearby fail to recognize the symptoms of a stroke. \n\nNow doctors say a bystander can recognize a stroke by asking three simple questions: \n\nS *Ask the individual to SMILE. \n\nT *Ask the person to TALK, \nto SPEAK A SIMPLE SENTENCE. (Coherently) (i.e. . . It is sunny out today) \n\nR *Ask him or her to RAISE BOTH ARMS. \n\nNOTE: Another 'sign' of a stroke is this: Ask the person to 'stick' out their tongue. if the tongue is 'crooked', if it goes to one side or the other, that is also an indication of a stroke. \n\nhope it will help ..
422954
The best i can give you is to go to your local physician, and tell what you've told us. If its your doctor who said not to worry, ask for another Doctor's opinion, till u're sure about your own health condition
1170009
Whatever you say make sure u mean it..... Just let your friend know if he or she needs any help ...such as help around house yard w/kids running errands u r willing  and ready. That way your friend can concentrate more on getting well.  If your friends wants to talk  about their illness  truly listen.   Most importantly by all means, do not treat your friend any different than you have in past.
981197
Marfan syndrome is a genetic connective tissue disorder characterized by unusually long limbs and fingers. The disease also affects other structures and organs — including the lungs, eyes, heart, blood vessels, dural sac surrounding the spinal cord, and hard palate — in less visible ways. It is named after Antoine Marfan, the French pediatrician who first described it in 1896.\n\nCause\nMarfan syndrome is an autosomal dominant disorder that has been linked to the FBN1 gene on chromosome 15. FBN1 codes for a protein called fibrillin-1, which is essential for the formation of elastic fibers found in connective tissue. Marfan syndrome is also an example of a dominant negative mutation. Marfan syndrome is associated with incomplete penetrance, therefore not all persons carrying the mutation develop the disease. Without the structural support provided by fibrillin, many connective tissues are weakened, which can have severe consequences on support and stability. A related disease has been found in mice, and the study of mouse fibrillin synthesis and secretion, and connective tissue formation, has begun to further our understanding of Marfan syndrome in humans. For instance it has been found that simply reducing the level of normal fibrillin-1 causes the Marfan related disease in mice [1].\n\nMore recently, transforming growth factor β (TGFβ) has been shown to play an important role in Marfan syndrome. Fibrillin-1 binds TGFβ, inactivating it. In Marfan syndrome, reduced levels of fibrillin-1 allow TGFβ to damage the lungs and heart. New treatments for Marfan, using antagonists of TGFβ, are being investigated (Habashi et al., 2006 Science 312(5770):117-21).\n\nDiagnosis\nAlthough genetic testing is available, a diagnosis is usually made solely on clinical findings. A clinical diagnosis uses specific criteria that were established in 1996.[2]\n\n\nEpidemiology\nBecause Marfan syndrome is caused by an autosomal dominant genetic defect, each parent with the condition has a 50 percent chance of passing it on to a child. Most individuals with Marfan syndrome have another affected family member, but about 1/4 to 1/3 of all cases are due to de novo genetic mutations. Such spontaneous mutations occur in about 1 in 20,000 births. Estimates indicate that perhaps 1 in 5,000 people (0.02 percent of the population) have Marfan syndrome. It affects all races and both sexes equally.[3]\n\n\nSymptoms\nThe most serious conditions associated with Marfan syndrome primarily involve the cardiovascular system. Marfan syndrome may cause leakage of the mitral or aortic valves that control the flow of blood through the heart. This may produce shortness of breath, an irregular pulse, and undue tiredness. Another complication is cystic medial necrosis predisposing to dissecting aortic aneurysm.\n\nMarfan syndrome sufferers may grow to larger than normal height, and typically have long, slender limbs and fingers. Sometimes the fingers have a long, thin, spidery appearance known as arachnodactyly. In addition to affecting height and limb proportions, Marfan syndrome may produce other skeletal symptoms. Curvature of the spine (scoliosis) is a common problem, as is abnormal indentation (pectus excavatum) or protrusion (pectus carinatum) of the sternum. These symptoms may in turn cause unusual pressure on the heart and lungs. Other symptoms include; abnormal joint flexibility, high palates, small jaws, flat feet, stooped shoulders, unexplained stretch marks, and dislocation of the optic lens in the eye (ectopia lentis). Some people with Marfans have speech impediments as a result of the high palates and small jaws.\n\nNearsightedness or myopia is a common condition associated with Marfan syndrome. In addition, the weakening of connective tissue often causes detachment of the retina and/or displacement of the lens in one or both eyes.[4]\n\nDural ectasia is a major indicator of Marfan syndrome. It is a dilation of the dural sac surrounding the spinal cord.
789901
19 is so young, I'm so sorry.  Is there not anything the doctors can think of to do for her? Maybe a transplant? I'll say a prayer for her, that she stays comfortable, is at peace and if there is anything anyone can do to help her, may they find her and help.
994990
If you are feeling uncomfortable, it's always fine to get a third opinion. Possibly don't tell the third doctor your previous diagnosis until they have already checked you and told you what they found... that way they are looking at it 'fresh' and not just looking for what you told them someone else already found. If they, too, say this, then I would suggest following their advice. I think it's smart to get different opinions when considering some major medical stuff, though.
212163
Hello again there!  Sorry to hear about how you feel.  I also have CFS or abstein bar.  I'm a bit of a pro at it, the difference with me is that I am a new person after my treatment. CFS starts out as Mononucleosis (MONO) the virus which if untreated turns to CFS, so that's why my doctor treats it with Valtrex.  Depression and anxiety come with CFS which also causes joint and muscle soreness, that's where the antidepressants come in.  As far as the fybromyalgia the only thing I know for it is pain management and that is something I don't dare explain because I have no personal experience but from my mother having it I know it's not easy to treat. Listen, if your doctor disagrees with the treatment that I just described to you as far as the CFS then you need to find someone who is more open to your health solutions. I love my doctor, he's so wonderful that my trust in him is unmentionable. I know it's scary to try someone new, but you need to feel better.  Wouldn't you like to feel normal again?  Be able to get up when you wake up and go.  Not fall asleep at the wheel.  You get my point.  I'm a new person and I have a new baby.  Believe me it feels good to be awake and the weight of the world is now a lot more manageable.  By the way drinking makes it worse, a lot worse!  So if you do, you need to take a break until you're all better.  Believe me it didn't help me any, I thank GOD for today. Chat with you later   I hope this info helps u a little bit. By the way if you're having trouble with a day at a time, try an hour at a  time.  Sounds like you're under a lot of stress and that makes the CFS worse all of the time.  Help is on the way,  you'll be alright. My doctor always reassured me that I'd be o.k., he is very involved with his patients and that's why everyone loves and trusts him so much
543233
I know what your Friend is going thru. Prayer is the only thing that can help her. I was surprised more people did not answer this. Maybe they did and maybe they did pray for her. Either way please keep me updated if at all possible. I am interested to know the outcome. I will pray for her!
29657
The most important thing is that she tells him. Many people down talk shows but it is better to tell him than not. I suggest an e-mail. But if she wants it to be confidential, she should type a letter, or get an e-mail address specifically to tell him. She can get a close friend like you to do it as well. Some people may consider her a punk but the most important thing to do is tell him. The disease is not fatal.
787150
The  truly  sad thing  about situations like this  is  that  the  patient -  more often a man - has already  been  having  symptoms for a  while.      His heart has been  trying to g et his  attention with little signals that he has just refused to pay  attention to.    Heart  attack?   Me?    Nahhh.      I'm  not old enough.....  or....   I   feel  great  etc. etc.       That's the  way heart  attacks work.   My bet  is  that he has never had  a  thorough  physical  examination and heart  evaluation in his life\n                              It's too late now, of course, to be looking into  the past.  It's over.    Only  what happens in the future is important.      The  only  thing YOU  can do right now  is take   some  flowers,  and yourself  to the hospital to see him,  and  say all the right things, about how  important it is for him to get  well so he can as soon as possible  get back to his  family that loves him and  needs  him.        Now  what your friend,  his  daughter, can do is a  LOT.     She has  to  help her mother  and other members of the family  to  bully  the heck out of him  to  start   properly  taking  care of himself  for  a change.  He obviously  hasn't   been doing that  because he already knew his cholesterol  was way  up and  did nothing  about it.    Your  friend  needs to  remind her  Dad  that  she needs him,    and  they all do,  and,  goshdarn it, if he doesn't want to   look after his own health for  him,  he should  do it  for  THEM.                    \n                                 The doctors will have run some tests to  determine if  he has some blockages  (my bet is  that he has)   and then make arrangements for him to have  appropriate   treatment. (probably surgery).    After that,  he is going to need to follow strict  doctor's orders,  change his lifestyle, and  stop  neglecting  his health.   If  he  does that,  he has every good chance of being around for a  long time.    Unfortunately men  are   especially bad at  taking  care of  their health.    I guess it's a macho thing.   "I'm  not  going to  get sick.    Nothing wrong  with me.    I'm  tough"      LOL  I wish I had  a  $20  bill for every  time I heard  a man  say that,  or had  some  woman tell me  that  was how her husband  was\n                                   I hope  this helps.    Tell your friend what I  said, and  tell her to tell him  that she wants her Dad  to be  around to  walk her down the Aisle one day,  and  after that,  to be a part of his  grandchildren's  lives.    Tell her to tell him,  that's not a  request,  that's  an order.
222863
well you can ask a docter or look it up and you know what if you have a close friend that is a docter you knwo that helps well just i think you can look it up on the internet
72235
Make your friend understand that you are here for him/her and that sadness or bad situations never last, try to give him/her hope and if it's really serious advise him/her to see a doctor who could bring light to such mental ordeal(hope you understand what I mean)
228644
I see so much misinformation thrown out there, and it is pretty frightening.  I think this is a very useful forum in certain situations, such as "I have been diagnosed with condition X by a doctor.  Where can I get more info?  Or what is your experience with this disease?"\nBut too many people are out there asking to be diagnosed by strangers who are in no way qualified to do so.  I have been known to throw out this comment from time to time (I actually have it in a folder on my desk top so I can copy and paste it!):\n"With all due respect, you should not be looking for a diagnosis on this site.  I am in the medical field, and I am constantly horrified by the amount of totally wrong information/suggestions that I see here on a hourly basis.  Even if someone says they are a nurse or doctor, you have no idea if they really are or not.  On the internet, you can be anything you want to be.  There are resources out there.  Go to your doctor, or at least call your doctor.  Many offices have nurse practitioners who can return your calls and answer questions.  Call the nurse at your city/county Public Health office.  Many insurance companies have a number where you can speak with a nurse, so see if your insurance company provides that service.  At least you will know that you can trust their expertise.   I believe this site is useful for things such as…I have been diagnosed with such and such disease/condition, what is your experience with it.  OR  where can I find more information of such and such.  But asking people to diagnose you here is just plain dangerous……"\n\nIf the person is asking something that I feel qualified to answer, I will.  Or I can research for sites where they can educate themselves.  I have also come to realize that we, as parents, are not doing enough to educate our young people.  Their lack of BASIC knowledge of their bodies is appalling.
380342
Absolutely not. Marfan Syndrome is a genetic disorder. Its congenital - you are born with it.\n\nUnless you are talking about giving your unborn child Marfan's due to drinking? Now that is unlikely to happen, but there are cases of spontaneous genetic mutation that cause Marfan's. Usually, however, it is a dominant gene mutation passed on the parent to child. Its rare that it springs up out of the blue...