u/o0ttt

11-Deoxycortisol
17-Hydroxyprogesterone
Pregnenolone
Androstenedione
11-Deoxycorticosterone
Cortisol
DHEA
Progesterone
Testosterone, Total (LC/MS/MS)
DHT
Androstanediol Glucuronide

Unfortunately, I cannot get the other hormones done without seeing a specialist and for that I need reason to actually get it. Can anyone let me know if this is enough for PFS? Alongside a DUTCH and WGS?

Title

So everytime at like 8pm, my heart starts pounding, my fingernails go blueish purple, panic, pain in joints and then start loosening. This is reminiscent of the start of my other crashes, why does this even happen, what is this? It happened after two months on CDG.

I’m only saying this since the place I will go and get it done is pretty far away from me, it’ll be a struggle to get there as I am currently very sick. I have a WGS on hand, but I am still hesitant about sending my sample in. If there is a chance that the panel may not show anything, I will go ahead and just ship my WGS. Can someone let me know if the panel guarantees picking up an outlier for the melty skin phenotypes? Thanks.

👍

So a lot of things have improved, pretty much all aspects, but I am still missing pretty much all my muscle, bone structure, energy etc. I am probably around like \~10%, although I’ve had a peak of 20% around end of year. The progress I’ve made is very significant, I was unable to bend because of some very sharp pain in my leg, had so clue what it was; I spent a year basically confined to my bed panicking over and over. Now that is gone at least, I can make music again somewhat, but I have lost a lot of my ability to like hear and understand things, I am also tone deaf now…? I think sexually I am all over the place, only thing that has remained consistent is libido, but it is erratic, my brain wants it but my genitals don’t. Still unable to leave my house and my heart can’t really handle any exercise.

I have no clue if my body is capable of more than this. As soon as I crashed and I saw the changes I kind of knew some of this would be permanent, I didn’t really care much about the mental sides as I know the brain is pretty good at healing itself, but physical losses of bone as crazy as it sounds, and as quickly as it happened, I don’t think will heal.

It’s just upsetting to me, all of this is. Just losing everything so suddenly, to a condition I didn’t think was possible to even manifest in this way. I know I shouldn’t care about how I look, but I was young, I was in relationships, now I just look freakish. I think the best way to put it is like a druggie or a cancer patient. I was at university in my first year, and two months after starting I was immediately bedridden, looking completely different.

It’s isolating as I feel as if I can’t really talk about my symptoms since most here don’t have the same severity, it just sounds crazy. I have lost my mind but I’m not at the point where I am imagining things.

Yeah, not going to die yet, still fighting to see how far I can get, but naturally my hope is kind of diminishing at this point.

This has always scared me to be honest, how is it possible that this happens so quickly, like insanely quick. Bone loss due to hypogonadism happens over time, but with PFS for some reason it’s like that but x100000 in severity, some people here have visible changes in bone; don’t even need a DEXA to confirm it. So why does this happen, how can this happen, it’s not been documented before…?

Turns out that my hearing loss is actually this, I’m quite shocked since it’s common in brain injuries. Has anyone had the same issue?

Has anyone with PFS had this happen to them? How would you even know?

I feel like something is definitely happening to be after I shower now, I felt good literally just before going in the shower and now I have penis pain and depression. I’m not using any soaps or anything, so why does this happen?

What happens then? If there is no financial compensation do we just face homelessness and die or what?

I am on the waitlist and was wondering how prescribing is done. Are US doctors allowed to give prescriptions to use in UK pharmacies? What if I needed something that isn’t easily obtainable or is outright impossible to get here?

I have been on it for almost a month, like 1.5g per day, and a few days ago I noticed hot flashes, didn’t think much of it. Yesterday it got pretty bad but it went away eventually but just after I took my CDG dose today I noticed it happened again. Is CDG enough to lower estrogen significantly or not here?

Title B12

Whenever I look in the mirror I don’t recognise or affirm that what I’m seeing is me, it’s the same with my name. I saw it today on an email and it didn’t feel like it was addressed to me, like this is the name of some other person except it’s not. To me, I have no identity.

This is the most crazy I’ve ever felt throughout this, like this dissociation is incredible. I find that there is no continuity of time at all, it’s like I died yesterday; reborn today, only to die again when I sleep.

Everyone and everything feels so distant, it’s like I’m the only one in this world and no one else is real. I feel like one day I may just lose my sense of self entirely, which scares me a lot. Since no one understands what I’m going through, no one knows how to help me day to day I’ll just be left stranded suffering even more.

I don’t know what I’m seeking through posting this, maybe just to talk to someone, or get my feelings out there.

I say this since I had a lot of the symptoms growing up, freezing limbs, brain fog, depression, ED. Which is why the transition to PFS didn’t really shock me as this was sort of the baseline my whole life, until I got very severe and of course my new normal now is obviously so much worse than what I was before.

The only time I wasn’t depressed and the very first time I experienced happiness for the first time since childhood was when I fully worked on my health, and this was after crashing the first very time. I was kind of shocked at how easy life was to navigate without this horrible depression and brain fog.

For me, nicotine pre PFS absolutely messed my libido up completely, I went off of it and then I had like a PFS style window.

So this androgen theory interests me as what if glucordination just didn’t work well at all, like a UGT2B17, and UGT2B15 homozygous. Could someone exposed to like the most benign 5aris their whole lives gradually develop PFS symptoms? Maybe this is what I faced growing up?

I’ve seen people talk about loss of bone mass and such, which happen really quickly. Is this actually a thing? Last post for a while btw I know I’m clogging up this sub lmao.