Should I tell my friend to get checked for a congenital disease?
September 3, 2011 10:00 PM Subscribe
Should I tell my friend to get checked for a congenital disease?
Due to incidence within my family, I am familiar with the symptoms of congenital connective tissue disorders. A good friend of mine fits the physical presentation of Marfan syndrome very well, and is starting to have chronic back pain, which can result from the illness.
I honestly don't know what to do. I would really like to tell him to get his heart checked (the most deadly consequence of the condition). He has two young children, and I feel that if there is a risk of something happening to him he should know. On the other hand, it seems like a terrible invasion of privacy, and I would feel stupid to worry him about something that turned out to be a red herring. I also don't know if I would even want to know if I had an incurable disease. Is knowing better than not knowing?
Anyway, this has really been bothering me, but I struggle with deciding whether it's even my business. Even if I were to say something, I don't know how to cheerfully suggest to someone that they consult their doctor. Any advice on whether or not to do anything would be much appreciated.
Due to incidence within my family, I am familiar with the symptoms of congenital connective tissue disorders. A good friend of mine fits the physical presentation of Marfan syndrome very well, and is starting to have chronic back pain, which can result from the illness.
I honestly don't know what to do. I would really like to tell him to get his heart checked (the most deadly consequence of the condition). He has two young children, and I feel that if there is a risk of something happening to him he should know. On the other hand, it seems like a terrible invasion of privacy, and I would feel stupid to worry him about something that turned out to be a red herring. I also don't know if I would even want to know if I had an incurable disease. Is knowing better than not knowing?
Anyway, this has really been bothering me, but I struggle with deciding whether it's even my business. Even if I were to say something, I don't know how to cheerfully suggest to someone that they consult their doctor. Any advice on whether or not to do anything would be much appreciated.
I too have a family history of Marfan and am in the process of finding a geneticist so I can get tested.
I think you should tell your friend. Approach it with an attitude of caring and concern and you will be okay.
"Friend, I'm worried about you. You know I'm familiar with Marfan syndrome because of my family and I'm worried you might fit some of the criteria. It can be a big deal if it's left untreated and I want to keep you around for a good long time. As a favor to me would you get things checked out?"
posted by TooFewShoes at 10:24 PM on September 3, 2011 [1 favorite]
I think you should tell your friend. Approach it with an attitude of caring and concern and you will be okay.
"Friend, I'm worried about you. You know I'm familiar with Marfan syndrome because of my family and I'm worried you might fit some of the criteria. It can be a big deal if it's left untreated and I want to keep you around for a good long time. As a favor to me would you get things checked out?"
posted by TooFewShoes at 10:24 PM on September 3, 2011 [1 favorite]
I have a disorder that's related to Marfan syndrome (for years I was thought to have Marfan's itself, till genetic testing determined once and for all that I actually have MASS phenotype). Given the risks associated with Marfan, I think it's important that he get checked out -- there are very effective ways to track and manage the cardiac problems, so that many people with the disorder have a totally normal lifespan now, which was certainly not the case a couple of generations ago. But he can only get that treatment if he gets a diagnosis. Please bring up your concerns with him.
posted by scody at 10:28 PM on September 3, 2011
posted by scody at 10:28 PM on September 3, 2011
You are not invading his privacy - you are giving him information, it is up to him what to do with it. Similarly, he can decide for himself if he wants to follow up with his doctor. Furthermore, you don't actually know if he has an incurable disease or not.You are not giving him a death sentence - you are just suggesting (strongly) that he talk to his doctor to find out more about himself.
posted by metahawk at 10:29 PM on September 3, 2011 [3 favorites]
posted by metahawk at 10:29 PM on September 3, 2011 [3 favorites]
Knowing is better than not knowing.
If a regular person with no medical history comes into the ER with chest pain, they oftentimes get an EKG and a chest x-ray and that's it.
If a person with Marfan's syndrome comes into the ER with chest pain, immediately our antennae will be up for aortic dissection and we will be much more likely to diagnose it and treat it faster. If they come in with abdominal pain, immediately we'll be checking for an aneurysm.
That's just one example of how knowing this piece of medical history could change medical management, although it is one that could specifically save your friend's life. There are a whole host of other related medical implications, as you know, that can be managed and/or treated. Tell him to get checked. He'll most likely appreciate your concern. It doesn't have to be a huge, serious discussion. Just saying something like "hey, you must get this all the time, but you've got such long fingers! Just like my Uncle Bob. Did you know that he got diagnosed with Marfan syndrome, and that is one of the signs? Hey - have you ever been checked for Marfan syndrome?"
posted by treehorn+bunny at 10:49 PM on September 3, 2011 [5 favorites]
If a regular person with no medical history comes into the ER with chest pain, they oftentimes get an EKG and a chest x-ray and that's it.
If a person with Marfan's syndrome comes into the ER with chest pain, immediately our antennae will be up for aortic dissection and we will be much more likely to diagnose it and treat it faster. If they come in with abdominal pain, immediately we'll be checking for an aneurysm.
That's just one example of how knowing this piece of medical history could change medical management, although it is one that could specifically save your friend's life. There are a whole host of other related medical implications, as you know, that can be managed and/or treated. Tell him to get checked. He'll most likely appreciate your concern. It doesn't have to be a huge, serious discussion. Just saying something like "hey, you must get this all the time, but you've got such long fingers! Just like my Uncle Bob. Did you know that he got diagnosed with Marfan syndrome, and that is one of the signs? Hey - have you ever been checked for Marfan syndrome?"
posted by treehorn+bunny at 10:49 PM on September 3, 2011 [5 favorites]
I am of the view that you should give people information and let them decide from there.
posted by mleigh at 10:50 PM on September 3, 2011
posted by mleigh at 10:50 PM on September 3, 2011
Yes, certainly, tell him. But try not to get invested in what he does with the info.
Somebody told me I ought to get screened for a particular BRCA1 (BReast CAncer 1, not kidding) deletion mutation, that, if I had it, would mean I had a 90% chance of developing breast or ovarian cancer in my lifetime. My mom had that specific mutation (and cancer)... and my sister has it too (also cancer). My mom's mom, mom's sister, and a whole lot more female relatives from that side of the family have had breast or ovarian cancer.
But I haven't had the test. Why? Because I don't want to. OK, but *why*, pH? BECAUSE I DON'T WANT TO! pH, have you given any more thought to-- SHUTUP SHUTUP SHUTUP! AAAAAAGH!
I'm otherwise pretty smart, and usually not immune to reason. But that's where I personally am with an issue like that. People are not always rational agents. If you could get into a mindframe where you were OK with giving him the info you have, and then never knowing what, if anything, he did about it, that will be easier on you, and your friendship.
posted by pH Indicating Socks at 11:11 PM on September 3, 2011 [5 favorites]
Somebody told me I ought to get screened for a particular BRCA1 (BReast CAncer 1, not kidding) deletion mutation, that, if I had it, would mean I had a 90% chance of developing breast or ovarian cancer in my lifetime. My mom had that specific mutation (and cancer)... and my sister has it too (also cancer). My mom's mom, mom's sister, and a whole lot more female relatives from that side of the family have had breast or ovarian cancer.
But I haven't had the test. Why? Because I don't want to. OK, but *why*, pH? BECAUSE I DON'T WANT TO! pH, have you given any more thought to-- SHUTUP SHUTUP SHUTUP! AAAAAAGH!
I'm otherwise pretty smart, and usually not immune to reason. But that's where I personally am with an issue like that. People are not always rational agents. If you could get into a mindframe where you were OK with giving him the info you have, and then never knowing what, if anything, he did about it, that will be easier on you, and your friendship.
posted by pH Indicating Socks at 11:11 PM on September 3, 2011 [5 favorites]
"hey man, you know your back issues? My sister/cousin/nephew have similar issues - they've got a thing called Marfans. Have you been checked for it? It's a genetic thing."
Don't push it though.
posted by geek anachronism at 3:04 AM on September 4, 2011 [6 favorites]
Don't push it though.
posted by geek anachronism at 3:04 AM on September 4, 2011 [6 favorites]
Complications related to Marfan's are life-threatening dangerous and quick to onset. Please do tell.
posted by Jurate at 4:49 AM on September 4, 2011
posted by Jurate at 4:49 AM on September 4, 2011
If I were your friend, I'd want to know. I wouldn't frame it as "You have to get tested now!" but rather as "Hey, this is something that runs in my family that might fit what's happening to you, and it'd be better to know, right?"
posted by pie ninja at 4:55 AM on September 4, 2011
posted by pie ninja at 4:55 AM on September 4, 2011
I'd want to be told. More information is better than less.
posted by fivesavagepalms at 6:51 AM on September 4, 2011
posted by fivesavagepalms at 6:51 AM on September 4, 2011
Do you know for sure your friend hasn't been tested? Is your friend already seeing a doctor for these symptoms?
I ask because, as someone with chronic pain, I find it tiresome to hear people's armchair diagnoses, miracle treatment suggestions, and well-intentioned "have you been checked for X?" questions, because the answer is almost certainly that my doctor and I have long since considered whatever thing they're suggesting.
If your friend is self-managing his symptoms, and hasn't seen a doctor, and hasn't been dealing with them for so long that he's probably already been tested for a million things, or if he is resistant to the idea of seeing a doctor, then you should say something: "Dude, your symptoms are probably not, but could be, related to a very serious condition. I wish you'd see your doctor." If he's under a doctor's care, presumably the doctor has heard of Marfan's and recognizes the symptoms, and your friend probably doesn't need your intervention.
posted by not that girl at 8:01 AM on September 4, 2011 [2 favorites]
I ask because, as someone with chronic pain, I find it tiresome to hear people's armchair diagnoses, miracle treatment suggestions, and well-intentioned "have you been checked for X?" questions, because the answer is almost certainly that my doctor and I have long since considered whatever thing they're suggesting.
If your friend is self-managing his symptoms, and hasn't seen a doctor, and hasn't been dealing with them for so long that he's probably already been tested for a million things, or if he is resistant to the idea of seeing a doctor, then you should say something: "Dude, your symptoms are probably not, but could be, related to a very serious condition. I wish you'd see your doctor." If he's under a doctor's care, presumably the doctor has heard of Marfan's and recognizes the symptoms, and your friend probably doesn't need your intervention.
posted by not that girl at 8:01 AM on September 4, 2011 [2 favorites]
Marfan's is serious shit.
When you hear about perfectly healthy young athletes suddenly dropping dead from an "undiagnosed heart condition" -- particularly players of basketball and volleyball -- it's very often mitral valve prolapse due to Marfan's.
Yes. Tell him. THERE IS ABSOLUTELY NOTHING WRONG WITH TELLING HIM. Hell, I might even say it is your duty to do so.
(See also Ehlers-Danlos Syndrome, which is often the bad news accompanying "Good news! No Marfan's!")
posted by Sys Rq at 8:58 AM on September 4, 2011
When you hear about perfectly healthy young athletes suddenly dropping dead from an "undiagnosed heart condition" -- particularly players of basketball and volleyball -- it's very often mitral valve prolapse due to Marfan's.
Yes. Tell him. THERE IS ABSOLUTELY NOTHING WRONG WITH TELLING HIM. Hell, I might even say it is your duty to do so.
(See also Ehlers-Danlos Syndrome, which is often the bad news accompanying "Good news! No Marfan's!")
posted by Sys Rq at 8:58 AM on September 4, 2011
(I will also point out that Marfan's is one of those armchair diagnoses that is really easy to make once you know the external physical traits, just like it's pretty easy for most people to recognise Down Syndrome. Of course, this also means that in addition to us laymen, most competent doctors will be able to recognize it too, so your friend may well know all about it already. Still, better safe than sorry.)
posted by Sys Rq at 9:15 AM on September 4, 2011
posted by Sys Rq at 9:15 AM on September 4, 2011
A close friend of mine very recently and unexpectedly lost her 31-year-old brother (in the happiest and brightest time of his life) because of undiagnosed Marfan's-related complications. My friend went and got tested only after that happened, and she has it too. She has made lifestyle changes and takes medication that will help limit the effects. She wouldn't have known unless her brother died, and she might have died early tooand that is way too high a price to pay for that knowledge, so tell your friend. The next time he mentions a physical symptom (or earlier, depending on your comfort level), encourage him to get to the doctor.
posted by so_gracefully at 9:41 AM on September 4, 2011
posted by so_gracefully at 9:41 AM on September 4, 2011
"Yes, certainly, tell him. But try not to get invested in what he does with the info."
This is the takehome point here. Also as said by not that girl, it can be VERY frustrating to hear people's diagnoses of your situation if you're dealing with chronic pain. I've got two younger siblings with as-of-yet undiagnosed degenerative disorders that have, with them, the component of chronic fatigue (one's in a wheelchair, the other is heading that way someday), and I can't even begin to tell you how many times a well-meaning but somewhat ignorant friend has asked me whether they've been tested for Lyme disease, or muscular dystrophy, or fibromyalgia... the list goes on. Somehow they seem to think that the fact that these kids have been seeing dozens of specialists from Boston Childrens, Cleveland Clinic, the Mayo... all those guys are going to miss THEIR diagnosis that they've seen information about on the evening news.
However, I think it's also very fair to say that not every doc is going to bring up Marfans with a pt even if they notice the symptoms and physical traits. There are good docs and bad docs and even though it's a very serious condition, there are plenty who will rush you through your yearly physical without paying attention to prevention beyond the normal heart/obesity/cancer screenings.You know your friend much better than us and if you think he has no idea and you are able to posit the question to him in a compassionate way, DO IT, and if it goes over the wrong way with them, just apologize politely and tell him you're especially sensitive to the diagnosis these days because of the high incidence in your family and that you care about him.
posted by takoukla at 9:44 AM on September 4, 2011
This is the takehome point here. Also as said by not that girl, it can be VERY frustrating to hear people's diagnoses of your situation if you're dealing with chronic pain. I've got two younger siblings with as-of-yet undiagnosed degenerative disorders that have, with them, the component of chronic fatigue (one's in a wheelchair, the other is heading that way someday), and I can't even begin to tell you how many times a well-meaning but somewhat ignorant friend has asked me whether they've been tested for Lyme disease, or muscular dystrophy, or fibromyalgia... the list goes on. Somehow they seem to think that the fact that these kids have been seeing dozens of specialists from Boston Childrens, Cleveland Clinic, the Mayo... all those guys are going to miss THEIR diagnosis that they've seen information about on the evening news.
However, I think it's also very fair to say that not every doc is going to bring up Marfans with a pt even if they notice the symptoms and physical traits. There are good docs and bad docs and even though it's a very serious condition, there are plenty who will rush you through your yearly physical without paying attention to prevention beyond the normal heart/obesity/cancer screenings.You know your friend much better than us and if you think he has no idea and you are able to posit the question to him in a compassionate way, DO IT, and if it goes over the wrong way with them, just apologize politely and tell him you're especially sensitive to the diagnosis these days because of the high incidence in your family and that you care about him.
posted by takoukla at 9:44 AM on September 4, 2011
When you hear about perfectly healthy young athletes suddenly dropping dead from an "undiagnosed heart condition" -- particularly players of basketball and volleyball -- it's very often mitral valve prolapse due to Marfan's.
I often think this exact same thing -- it's how Flo Hyman died. To be a little pedantic, though, it's not strictly the mitral valve prolaspe that will kill someone. MVP is an extremely common feature of Marfan's, but it's also a relatively common form of heart murmur in the general population, and in itself is not usually deadly. What's deadly for people with Marfan syndrome are the related aortic problems, which can result in sudden and potentially fatal aortic aneurysm or aortic dissection.
I think it's also very fair to say that not every doc is going to bring up Marfans with a pt even if they notice the symptoms and physical traits.
I want to agree with this. I had the Marfan's "look" and had certain key symptoms (mitral valve prolapse, mild scoliosis) by my mid-teens, but I never had a doctor mention the possibility of Marfan's till I was about 26 or 27.
posted by scody at 9:53 AM on September 4, 2011 [1 favorite]
I often think this exact same thing -- it's how Flo Hyman died. To be a little pedantic, though, it's not strictly the mitral valve prolaspe that will kill someone. MVP is an extremely common feature of Marfan's, but it's also a relatively common form of heart murmur in the general population, and in itself is not usually deadly. What's deadly for people with Marfan syndrome are the related aortic problems, which can result in sudden and potentially fatal aortic aneurysm or aortic dissection.
I think it's also very fair to say that not every doc is going to bring up Marfans with a pt even if they notice the symptoms and physical traits.
I want to agree with this. I had the Marfan's "look" and had certain key symptoms (mitral valve prolapse, mild scoliosis) by my mid-teens, but I never had a doctor mention the possibility of Marfan's till I was about 26 or 27.
posted by scody at 9:53 AM on September 4, 2011 [1 favorite]
Yes, my mistake, it's the aortic dissection, not the MVP. Still, though. It's a big deal, is what I was saying.
posted by Sys Rq at 10:14 AM on September 4, 2011
posted by Sys Rq at 10:14 AM on September 4, 2011
yes, I totally agree with you - definitely a big deal.
posted by scody at 11:14 AM on September 4, 2011
posted by scody at 11:14 AM on September 4, 2011
You might find the answers in this thread helpful.
Count me as another vote for you to mention your concerns to your friend.
posted by hurdy gurdy girl at 3:49 PM on September 4, 2011
Count me as another vote for you to mention your concerns to your friend.
posted by hurdy gurdy girl at 3:49 PM on September 4, 2011
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I would tell him. The worst that could happen is you make a social faux pas. The best is that you can significantly improve his quality of life. The risk reward strikes me as so one sided in favor of telling, even if you turn out to be wrong.
posted by JohnnyGunn at 10:14 PM on September 3, 2011 [7 favorites]