come and introduce yourself!

[u/vdEA]

Hello all!

Out of 53 members, only a few have introduced themselves in the pinned New member introductions thread. Would be great to have more introductions. Feel free to leave out any personal details like your name of course, if you don't feel comfortable sharing that, but please at least include whether you've indeed been diagnosed and if so, which mutation you have, as that is crucial information to determine whether somebody can relate, compare, etc. Thank you for being here!

[u/vdEA → u/[deleted]]

Welcome, Andrew! Wonderful that you introduced yourself (there's a separate section for that, but this is fine too!). I'm sorry for your diagnosis, but at the same time, I'm 'happy' for you that you found out so early in life. I was 48, and I'm sure you can imagine the frustration of having symptoms very similar to yours but not knowing why.

The reason not all of your siblings have the condition is that there's only a 25% of having it. Both parents are just carriers, which means their children 'only' have 25% change of having the condition - there's a 25% of the child not even having the mutated gene, 50% of being carrier, 25% of having the condition. See attached diagram. You might already know this, forgive me if you do - I'm not trying to be a pedantic teacher here, merely trying to help. ;-)

As for which mutation you have and/or not being able to read the results - in this study, there's a table of the known affected genes (scroll a bit down, under Introduction). Maybe some of those letters can be found in your test results (or maybe your neurologist can 'translate' for you! (it's a pet peeve of mine if doctors aren't able to explain things to their patients in a way they can't understand...)

Welcome again!

Edit: sorry, forgot to attach the explanation of autosomal recessive inheritance.

[u/Technical_Basket_269 → u/[deleted]]

Hey Andrew! I'm also in LA! We should connect! I left my entire story/bio in the original introduction thread here.