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Does anyone know much about this? Apparently mil, sil and bil were all diagnosed with it 2 decades ago but the doctor forgot to tell them (no I'm not kidding) and there is a decent chance that dh has it too as he is the tallest in his family. I'm trying to reassure myself but would be delighted with some non scary tales before I can get my husband and kids tested.
My dad, brothers and I all have multiple traits of it. No offical diagnosis but in terms of hyper extention, stretch marks, poor vision, long lung fields, and in one of my brothers case, his wingspan is longer than his height (by about 30cm). my dad and brothers all got their hearts tested a few years ago, as it can affect the valves.
I read up a fair bit about it so know a fair bit. I've also nursed a man who had it.
I think the big thing is heart vavles, and retina detaching are the major concerns really.
I agree with TT. We used to see quite a few kids at the kids hospital with it. The heart and eyes seem to be the main issues. The fact that he's gotten this far through life without an issue is encouraging.
Did you ever consider getting a diagnosis? Do you know if most people get the heart concern? Mil, bil and sil have all been put on meds and need annual heart checks but what about kids, would they need that too or are the complications an adult concern? Sorry for all the questions, I'm freaking out here. Two if my kids seem to take after their father in height.
More questions sorry. I don't really know what the eye issues are but I know this is one of sil's issues. My kids already have an annual eye exam so is it unlikely anything was missed?
please dont stress!! do they have any other traits? put simply, there is a protein lacking in the connective tissue. means that things aren't as stretchy as they should be, eg skin...so stretch marks are a big thing. hyper extention and long long bones are another because when humans grow up, the ligamints are what stop the bones growing any longer itms. ligaments are connective tissue, so they don't stretch right which is why i when i put my arms out straight my elbows are at a great than 180degree angle (sorry can't remember the proper name for it). and why my brother has monkey arms =P (think about da vinci's vitruvian man - the man with limbs spread that make a perfect circle, and where a humans height is the exact same as the distance between arms spread out). people with marfans, they are out of proportion. because the arms kept growing cause the ligaments didn't tell them to stop. these things, are things that can't kill you.
lung fields are long - means they don't fit one one xray film. can lead to higher chances of pneumonia etc.. due to not sufficiant deep breathing etc..
retina detaching is due to it being held together by connective tissue. basically if anyone sees a black spot in their vision, get them to ed ASAP (this is a medical emergency).
and yea, heart, our hearts are made of connective tissue. so in terms of valves etc, that would be why your hubby's family are getting regular checkups.
I also agree with Kim, your hubby has made it this far =) it is worth getting his heart checked.
truth is i'm not sure in terms of the kiddies, if they are too young to be diagnosied etc...
I don't know that much about it apart from one of DH's friends son has it, and one of my sisters friends has it. The friends son, was diagnosed very young <1, and is fairly obvious their is something wrong with him, he looks a bit different in terms of height (when he was 2 had height of a 4-5 year old - but only the height not any bulk), and features, and has extremely poor eyesight (I think he is around 10 now) - as far as they know there is no family history in his case. He has had various health issues over the years - and his heart and space in his ribcage have to be closely monitored. They are in UK so I have only met him a handful of times, he looks a little different and because of chest issues associated has to be a bit careful about catching colds, and certain activities (I think flying is restricted for some reason) but seems a pretty normal kid. My sisters friend did not find out till in late teens (now early 30's) - I think he suffered a collapsed lung and they found out due to that, but he hasn't really had any other issues - I will check with her.
So I suppose the non-scary angle is that there is a massive range in severity and from the little I know is that I would have thought if any had a more severe form of it that it would have presented by now.
Thanks TT :) I'm convinced dh has it, he is 6'4 with a longer armspan and has an unusual shaped breastbone. Combine that with the strong family history (including super tall grandad and great-grandad who both died of sudden heart failure) and it seems likely. Apparently my niece who is 5 has been tested as not a carrier of the dodgy gene though so I'm wondering if it's as simple as a blood test.
Thanks folks, consider me relieved :) Will chat with a gp hopefully at the weekend though.
if a family member has had a genetic mutation detected, then genetic testing is often available at very little or no cost.
We have it all through Mum's side of the family. My maternal grandmother had it, my uncle has it and my Mum and brother have symptoms - Mum actually was told she didn't have it but after recently developing issues with her eyes (cataracts and detached retina) she has decided to pursue genetic testing.
As wysiwyg said, there's a huge variation in presentation. My MGM didn't even know she had it - though ultimately it killed her (heart aneurysm). My uncle's presentation is very severe (severe curvature of the spine resulting in compromised lung function, elongation of hands and feet, heart issues) and he wasn't expected to live past early childhood. He is now in his late 60s and still doing amazingly. My Mum's had so few indicators that the doctors ruled it out, but it looks like she too could have it, but have had little more than eye issues developing in her 60s.
Lots of info here already but let me know if I can add anything.
There was an Australian Story episode about a family that has Marfans sydrome and some of what they went through with diagnosis and operations etc. It is called 'All in the Family' and there is a transcript online. A big word of warning though....as others have said it can present in a wide range of severities and the family in that story have a more severe version (one family member was advised not to have IVF or carry a child due to the risk on her heart and having to stop medications etc.) so it gives some of the picture but much of what they talk about relates to their version of it which sounds very different to the version that may be in your family ie. they have had stuff that wouldn't have been able to be 'forgotten' or just not noticed as you have described with your family who have had children without issue.
I think the testing for it depends on what they already know about your in laws and their specific genetic 'mutation', though I am not an expert in this so I could be wrong. From what I understand if they already know where the mutation is it is a pretty simple test (blood test) but if they have to find the mutation first - which is possible the Drs know your family have the syndrome but don't know the specific mutation - it is a longer process...still a blood test but taking months to get a result rather than days or weeks. Either way a referral to a geneticist would be in order if you do want to get testing done. The geneticist I saw (in Adelaide) had a 6 months wait for non-urgent cases so it might be worth considering getting a referral JIC you do want to at some point.
Good luck...x
Thanks again everyone, I spoke to a doctor at work today and he has given me some more direction, but most importantly DH is booked to see a gp on Saturday and I'll get the kids in next week :)
My dh was suspected of having it - he's 6 foot 7 (tallest in his family but all his relatives are over 6 foot except his aunty) he has hyperextension and his wing span is longer than his height.
He doesn't have it though, except for the wing span his body is all in proportion and the doc he saw said that was an indicator of it as well.
Glad he didn't have it :):
DH went to the doctor today and has been referred for an echo and genetic testing. Luckily we know the exact error on the gene to search for so it could be as simple as a blood test to find out if the kids are affected but DH almost certainly is given his build, loose joints and strong family history. He'll at least have his heart checked whilst he finds out for certain though.