u/limabeankin

HELLO!!!!

i was evaluated for and diagnosed with hEDS. i am trying to donate my kidney to my mother, who will be needing a kidney in the next year. the donation coordinators requested my specialist order genetic testing to rule out vEDS. i did not test positive for vEDS.

a VUS for the FBN1 gene was found instead.

i am anxiously waiting for my specialist to review the results that came back. i was so positive that i had hEDS, i have been sure of this for the past several years. and yet... the testing may indicate something else entirely?

i am very hypermobile, have never seen a cardiologist, and just never expected this due to an average stature/build and no other obvious marfanoid traits. i have NOT been diagnosed with marfan syndrome, but i am terrified that i will be.

the donation team told me i will likely be disqualified as a donor if diagnosis is confirmed. my mom is depending on me, i'm just mortified. i haven't even told her there's a risk i can't.

is VUS commonly seen in people who get diagnosed? or does it all depend??? i do have a referral to cardiology that was written after i was diagnosed with hEDS but i haven't been able to make contact with the office i need to see.

i am mostly seeking any kind of reassurance, if possible ;0;

hello all!

i spoke w my sleep specialist to go over my study and next steps. i am currently out of work on short-term disability, due to progressing functional neurological disorder. i made the connection that my cataplexy goes hand in hand with my fnd tremors. if i can get my cataplexy under control, i may be able to return to work and start living a somewhat normal life again!

additionally, i started taking my current meds again on tuesday. all of them give me crazy insomnia for the first week or so of a dose change or inconsistency. i have barely slept in days!!!

all this to say, my clinician suggested a nighttime med. i am going through the diagnostic process for mast cell activation syndrome due to histamine intolerance, so wakix may not be the best option for me. i was recommended to try lumyrz or xywav and i am interested in trying lumyrz first.

what has your exprience with it been like? side effects? positive effects? has it impacted your life in either direction??

thanks!!!

I GOT MY MSLT RESULTS BACK AND FINALLY GOT THE ANSWER I HAVE BEEN SUSPECTING! I HAVE NARCOLEPSY!!! i am not thrilled to have narcolepsy, but i am so so so so so relieved to have an official name for what is happening to me.

not only that, but apparently two types of sleep apnea! i'm so glad to have answers. i was gaslighting myself so hard to think i am just dramatic.

hello!

currently keeping myself awake during my MLST between naps. i have suspected narcolepsy for a while now, but was taken aback when my overnight in-lab testing came back with OSA and CSA. i am a 24 year old female with functional neurological disorder (which impacts the nervous system but not necessarily the brain to my understanding) but no other neuro problems. i am a bit concerned about the central sleep apnea finding. has anyone else had this diagnosis without significant neuro issues or association?

thank you!!