Vascular Ehlers Danlos Syndrome

[birdonthewing]

I'm hoping someone can help to put my mind at rest.
DH's brother died in 1990 of an aortic aneurysm suspected to have been caused by undiagnosed EDS. It wasn't categorised then as less was known about subtypes of EDS as is now.
DH was tested via ECG told he did not have it and therefore unlikely to pass on.
We had genetic counselling pre starting a family and there was no reason to suspect our kids might be at risk of inheriting the genes.
Skip forward 15 years. My youngest DD has very translucent skin and visible veins in chest and shoulder area. I've only recently become aware that this can be a subtle sign of vascular EDS. No other really obvious signs although (although the more I look the more I wonder). I'm slightly terrified. GP is going to refer for genetic testing but i gather this process can take up to a year for results. It's a very risky condition to live with especially without knowing.
Any advice or reassurance welcomed.

I don't have any answers for you but it seems absolutely horrendous you could be kept waiting for a year. Can you afford private screening? Just so you know what you're dealing with or alternatively, to have your mind put at rest.

There is an association (I googled, can't help myself, researcher in unconnected field!). They might have some leads on how to get tested more quickly.

Where inherited, It looks to be autosomal dominant inheritance pattern? So, if your DH tests clear, then, failing a de Novo mutation, your child would not be affected by this form of EDS? That is my non-geneticist understanding but I am not medically trained.

I hope your worries can be addressed soon. Medical uncertainties are so hard to deal with.

Thanks so much for your considered and helpful reply, radiodread. I really appreciate it. The stuff you mention about the autosomal dominant is exactly what I need to be hearing right now! Your take on it was also my understanding, for years, but you know how you can find anything you're looking (or not looking) for if you Google hard enough - so I was beginning to doubt it.

GP has made a referral but also made reassuring noises that he thinks it's 'not that', it's just a variation of normal. He will send her for an ECG too which should he quicker than the genetic/blood testing. I've found a private genetic testing option which would offer counselling beforehand - and may eliminate the need to go the testing route if they're able to put my mind at rest about how the phenotype can come about. So progress of sorts.