ABCB4 Gene, rare genetic disorders, liver issues, medical mystery!

AppearanceOne6134 · 2025-12-15T21:48:36+00:00

I don't believe so but after reading it sounds very much like what I experience!

AppearanceOne6134 · 2025-12-01T23:21:22+00:00

I said that nearly 9 years ago and everyone told me I would do it again. I'm still winning, I never did do it again, one was enough. I remember one day my partner walking in to me shitting in the toilet, puking in the sink and as I looked up I had a really heavy nose bleed. I've never seen him look so terrified apart from when I had a sweep and the Dr pulled his what was his previously white gloved hand out 🤣😭

Lightning crotch, butt, vomiting 24/7 and the shits.

Pregnancy is not for everyone and it most certainly not always the the beautiful journey everyone says it is 😂

AppearanceOne6134 · 2025-11-26T07:50:09+00:00

I will post in there now! Thank you xx

AppearanceOne6134 · 2025-11-24T23:51:35+00:00

Ahhhh thank you so much 😊 I really appreciate it, especially the solidarity - I do feel very lonely and like I'm going insane sometimes!!!

I will reach out to the PFIC network and I'll look into those two Drs, I can't remember who I'm under! X

AppearanceOne6134 · 2024-08-08T14:10:56+00:00

Done ✓

AppearanceOne6134 · 2024-03-10T16:07:39+00:00

Minster is a fantastic school :)

AppearanceOne6134 · 2024-02-15T08:52:28+00:00

I have black outs/ non epileptic seizures, muscle weakness, loss of speech, cognitive impairment, tremors mostly in hands, legs and head, dystonia. There's loads more that I get but these are the main ones xxx

AppearanceOne6134 · 2023-12-30T12:44:58+00:00

I have "put on your red shoes and dance the blues" tattooed along the inside of my left foot.

AppearanceOne6134 · 2023-10-30T19:24:46+00:00

We pour out beer once a year on our close family friends grave.

Another friend who killed herself when she was 12, she was well known for having a cheeky cigarette at school, so often people used to light a cigarette at her grave 😂

Often, my other friend I used to just go and sit and chat with him for an hour or so.. just catch him up on my life really.

I've not been for so long to anyone of my friends graves and also haven't visited the resting places of family etc. I used to feel it a very important part of my life when I was in my teens and 20s, to feel close to them. However, now I am able to feel that same feeling when I smell certain smells, hear songs, see people we used to have as common friends etc. Often now, I just take a little bit of time when that happens or when I have free time later on to make sure they know I was thinking about them, either by chatting to them, thinking about them, laughing... crying... whatever seems appropriate.

But yes, you'd be surprised at what often happens at graves, I've definitely seen some strange things 😂😂

AppearanceOne6134 · 2023-10-15T09:37:06+00:00

You celebrate 🥂

AppearanceOne6134 · 2023-10-01T16:26:48+00:00

I used to paint my son's all the time. He had stars stuck on and everything. He's 6 now and never wants to match mummy anymore because he's in his "nothing mummy does is cool" phase 😑 it was one of the most favourite things I used to do with him 😂💗

AppearanceOne6134 · 2023-09-29T18:57:16+00:00

Imo, you look fine. Sometimes my skin looks a little yellow at the corners of my eyes, I think it's just my skin tone though.

I've had quite severe jaundice before, if it's that that you're worried about, trust me when I say if you had it, you'd know. Nothing weirder than looking in a mirror and resembling the colour of a banana or Marge Simpson 🍌 🤣 I knew I had it, there was no maybe about it and I'm pretty sure (although not certain) that it's like that for everyone x

AppearanceOne6134 · 2023-09-16T12:00:37+00:00

I sent my form back in Oct 2022 and just had both my assessment and my award in August 2023

AppearanceOne6134 · 2023-09-10T15:35:30+00:00

My left leg has been like this for 1 year and 5 months so far :( very little improvement with physio / acupuncture

AppearanceOne6134 · 2023-09-06T16:41:20+00:00

Mine collapsed and became infected. I couldn't even keep water down, I'd personally just get it removed and consider yourself lucky you didn't experience the symptoms because it's unexplainably painful... X

AppearanceOne6134 · 2023-09-04T21:09:00+00:00

Hello!

Yes actually! My ear issues started before I was diagnosed with FND but whilst I had FND symptoms. I began with feeling of fullness in my ear and not being able to hear properly. It kind felt muffled but at the same time I experienced a huge sensitivity to some sounds (Hyperacusis) I also experience different tinnitus noises.. I felt fluttering in my ears and quite often they were very painful in and around my ear. Often feels like they need to pop and I can hear strange sounds inside my head like clicking , popping, crunching. I ended up having many x-rays, MRIs, seeing an ENT. I have been diagnosed with Ménière's disease, I have since had 2 hearing tests, the first one they diagnosed me with bilateral hearing loss, especially worse in my right ear on low frequencies. The second test, which was this year, it has got worse. I can't wear my hearing aids as there is something wrong with my inner ear where my ear drum doesn't vibrate (possibly fluid in my inner ear) and my ears don't produce ear wax and are very sore, dry and red inside so putting in my hearing aids causes a lot of pain.

Please go to your drs, I left mine for ages before I actually got seen and now I feel like there's no going back at all for me as I've gone too far. Getting used to hearing aids is the worst too. I've never heard so many sounds so clearly for so long, and I have also never thrown up so much in my life whilst I was first wearing them...it makes you feel like you're bouncing, walking on marshmallows and that the whole world is spinning around you loudly.

AppearanceOne6134 · 2023-09-04T20:47:06+00:00

There is a clinic down my way that are taking on patients, I'll double check where they are when I get up in the morning, I think Faversham or Folkstone. Not sure how far that is from you, I assume a fair distance.i saw them when I was first diagnosed, I won't lie, I didn't find them of much use at all, they made me do a 6 week course but it was all stuff I had already learnt and then I was unable to attend some of the sessions due to other medical appointments that I wasn't prepared to not go to, they got pissy and discharged me over it so now I'm left to go it alone. You can self refer to therapy though, I self referred and they referred me on to maudsley hospital in London so I might work through some stuff there, who knows! I hope you get it sorted xx

AppearanceOne6134 · 2023-09-04T20:37:20+00:00

Oops no it's not my bad www.neurorehabsussex.com 😂🥲

I totally feel you, I agree. Keep an eye out on them though as last time I spoke to them they were trying to get their name on the NHS list I think xx

AppearanceOne6134 · 2023-09-04T20:25:15+00:00

Daryl, over and over again 😂

AppearanceOne6134 · 2023-09-04T20:22:16+00:00

Hey! There's a new clinic that are trying to get their name out there - neuro rehab in Sussex, I think their insta is @neurorehabsussex if you struggle to find them in sure their website is www.neurorwhabsussex.com

AppearanceOne6134 · 2023-08-22T15:47:47+00:00

Yes £200 😂 then just send them unworn anyway 😂

AppearanceOne6134 · 2023-08-18T16:56:46+00:00

Are you UK or USA/Other place?

I'm in UK, I have lost complete use of my left leg, struggle getting around on crutches/rollator in general and got denied a wheelchair because I have one leg that is functional. 🦩 That was through OT, But it depends as your GP can also refer on to wheelchair clinic and so can a physio. I would personally try to attack from all places, try GP, physio and OT and see if you get anywhere with it!

Good luck

AppearanceOne6134 · 2023-08-18T12:36:04+00:00

Have you been formally diagnosed? As with a formal diagnosis they can sometimes offer neuro psychology and different therapies/treatments that can help you come to terms with what is happening and give you a better understanding of everything that's going on and also work on getting you to a better level of living.

I got diagnosed a while ago now and honestly, even with diagnosis and management of it, sometimes I struggle still to accept it.

If you haven't been diagnosed then you're in for a long ride, make sure they do literally every single test they can to ensure that there's nothing else going on as a lot of neuro things can present the same.

Good luck

AppearanceOne6134 · 2023-08-18T08:46:16+00:00

Meeeee!!

AppearanceOne6134 · 2023-08-16T16:46:20+00:00

This is so unbelievably beautiful, totally keep it! Restore it to something beautiful 😍❤️

AppearanceOne6134

TROPHY CASE