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Spongebobrob14 karma

what are you goals now that you've got the GCSE's out of the way?

Is medicine something that interests you?

What kind of music do you like to play/listen to? You should check out django reinhardt!

Spongebobrob8 karma

a.k.a Ehlers Danlos Syndrome :)

It is a genetic defect, which affects the formation of collagen in the body.

Spongebobrob5 karma

I know this is far away in your mind, but just for your information: You can actually (if wealthy enough to afford Invitro fertilisation at the time) do something called 'pre-implantation embryo discarding'.

You and your partner would have eggs/sperm extracted and embryos formed in the lab, then they will look at the genetics of the embryos and discard the ones that have the disease, which in your case is a non-functioning tumour suppressor gene that has autosomal dominant transmission, meaning only one copy is needed to pass on the disease.

They will implant in the women an embryo that is 100% free from your genetic disease and you can rest peacefully knowing you do not have to pass this disease on to your children.

Spongebobrob4 karma

it is, but for now ethically reserved to eradicating hereditary diseases like li-fraumeni or huntingtons etc

Spongebobrob2 karma

do you know what gene exactly is causing the problem?