Marfans syndrome

[Traveller]

Thanks folks, consider me relieved Will chat with a gp hopefully at the weekend though.

[HotI]

if a family member has had a genetic mutation detected, then genetic testing is often available at very little or no cost.

[Santosha]

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.

[Sagres]

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