u/Shymaiden

Hi again. I was recently diagnosed muscular disorder that falls between congential bethlem myopathy and myasthenia gravis. My doctor couldn't put a name to it. Basically two genes on my genetic test came up as mutated. I have droopy eyelids, facial weakness, my right thumb is missing muscle/muscle wasting, my hands was noted to be small, and my limbs were noted to be slightly disproportionate, I have a leg length discrepancy, and I have scoliosis. My nero was making a lot of notes.

I'm feeling more and more weaker as time goes on though. I'm limping. The weaker leg keeps buckling now and I get really bad pain in my legs when I'm trying to sleep. Sometimes I can barely walk. Getting out of chairs is harder. Even when I'm not at work, I'm in a pain if I walk around too much. I also have some weakness in my arms. I also have no energy.

I'm having a really hard time working now and I only work part-time. I work a very physical job. Some of family keeps telling me to quit but then I won't be able pay bills, feed myself, or keep a roof over my head. None of them are offering support. Just criticism that I'm not trying hard enough to find another job better suited for me. I can't stand for too long or I'm in pain. Most jobs in the US want you to stand. Including my job. I can't find a job sitting and I don't know if I have the energy to even do that. My nero said he would see if a social worker could help me get disability and some benefits but I'm wondering if they can help. I really need disability but I can't go broke waiting on that either. Any advice? And no my job does not accommodate. They lie and say they do but they will put you on unpaid medical leave and leave you in limbo till you give up on your accommodation request.

Previous post: https://www.reddit.com/r/MuscularDystrophy/s/o8Q02fO9Mn

I initially thought I had myasthenia gravis but I finally got some answers. I ended up getting a sooner appointment than I had initially with my neromuscular doctor. Then I got kicked off of medicaid and they had to squeezed me in luckily with a different insurance that's probably going put in the poorhouse with copays. Ugh. So my neromuscular specialist appointment finally happened yesterday and they basically told me he couldn't put a name to it. That it's not quite myasthenia gravis and it's not quite bethlem myopathy but it's something in that relm. That he needs to do more research and will try to come up with plan for me. I'm also supposed to be getting a social worker and talking about disability.

To provide some physical details. I'm a woman. When I first met my neromuscular doctor, he notice my drooping eyes lids, facial weakness, one of my thumb missing muscle, and small hands from just looking at me. He pointed out at my recent appointment, that the top halves of limbs were bigger than the bottle half. I thought that was interesting. I also have scoliosis.

But I'm also in a lot pain from just walking or standing too much. Just doing 4 hours at work leaves me in agony some days. My knees have also buckled a couple times but I haven't fallen yet. My arms get tired just doing my hair in a raised position. It all disrupts my sleep. I just don't know what to do. I don't know if I'll need a wheelchair soon. I just feel scared and alone.

I wish it had just been congential myasthenia gravis or the other one. Not some vague in between. So I'm still partly confused.

I would thank everyone who was helpful on my previous thread. I guess I'm part of this community in a weird way. lol

Hi. I'm new. I got genetic test saying this: COL6A2. COL6A2 is associated with a spectrum of autosomal dominant and recessive collagenopathies.

One Pathogenic variant identified in DOK7. DOK7 is associated with autosomal recessive congenital myasthenic syndrome and fetal akinesia deformation sequence.

I initially thought I had myasthenia gravis but my new primary doctor said it was two mutated genes. So my neromuscular specialist appointment finally happened yesterday and basically told me he couldn't put a name to it. That it's not quite myasthenia gravis and it's not quite bethlem myopathy but it's something in that relm. That he needs to do more research and will try to come up with plan for me. I'm also supposed to be getting a social worker and talking about disability.

To provide some physical details. I'm a woman. When I first met my neromuscular doctor, he notice my drooping eyes lids, facial weakness, one of my thumb missing muscle, and small hands from just looking at me. He pointed out at my recent appointment, that the top halves of limbs were bigger than the bottle half. I thought that was interesting. I also have scoliosis.

But I'm also in a lot pain from just walking or standing too much. Just doing 4 hours at work leaves me in agony some days. My knees have also buckled a couple times but I haven't fallen yet. My arms get tired just doing my hair in a raised position. It all disrupts my sleep. I just don't know what to do. I don't know if I'll need a wheelchair soon. I just feel scared and alone.

Hi. I applied to a new apartment recently and paid an application fee. It's a company. Not privately owned. Was sure I would get it and waited about 10 days for the application to go through. Didn't hear back today on the 10th day of waiting, so I gave them a call. They told me they have no record of me applying there and nothing on file. I'm panicking because my lease at my shitty apartment is almost up at end of August. They also took 50 dollars from me. I paid with a money order. They supposed to be calling me back but I'm confused, angry, and need a place ASAP.

Edit: They only accept paper apps b/w. Not done online.

I recently was prescribed norethindrone without estrogen recently for my endo. After taking Junel, I ended with CVST (blood clot near brain) and I was basically banned from taking regular birth control so I decided to take norethindrone after lots of convincing from my doctor, another sub on this site, and getting over the trauma of my blood clot. Anyway....

I've been taking norethindrone for 6 days now. It has my bladder hurting so bad and giving me insanely painful cramps. I've been up all night peeing. I also asked my new gyno if this would help my PMDD? She said yes. I told her I wanted zoloft again tbh as it worked in the past for my moods. I've been feeling down, stressed, and rageful. I don't think she believed me about my PMDD. She blamed it on being uncomfortable from endo. So I just said I'll try the new birth control and see if it helps. Well, I'm extremely depressed now and want to jump out a window after 6 days of this stuff.

I'm in pain, sleep deprived, and just want smother myself to death at the moment. Its like period is angry and just wants to happen but can't. So I'm limbo with the symptoms revved up. I think I rather have surgery and be done with it.

I messaged her earlier but I'm wondering is it just me? I feel like my body hates me and any forms of birth control at this point.

I recently was prescribed norethindrone without estrogen recently for my endo. After taking Junel, I ended with CVST (blood clot near brain) and I was basically banned from taking regular birth control so I decided to take norethindrone after lots of convincing from my doctor, another sub on this site, and getting over the trauma of my blood clot. Anyway....

I've been taking norethindrone for 6 days now. It has my bladder hurting so bad and giving me insanely painful cramps. I've been up all night peeing. I also asked my new gyno if this would help my PMDD? She said yes. I told her I wanted zoloft again tbh as it worked in the past for my moods. I've been feeling down, stressed, and rageful. I don't think she believed me about my PMDD. She blamed it on being uncomfortable from endo. So I just said I'll try the new birth control and see if it helps. Well, I'm extremely depressed now and want to jump out a window after 6 days of this stuff.

I'm in pain, sleep deprived, and just want smother myself to death at the moment. Its like period is angry and just wants to happen but can't. So I'm limbo with the symptoms revved up. I think I rather have surgery and be done with it.

I messaged her earlier but I'm wondering is it just me? I feel like my body hates me and any forms of birth control at this point.

Hi. Been awhile. I became a member of this sub when I developed Cerebral venous sinus thrombosis after taking the birth control, Junel. I remember taking the whole pack and then stopping at the last pill. Then the headaches from hell came and I went to the ER. Then I just remember everyone freaking out after seeing my CT scan. Like they were amazed I walked into the ER by myself. It was that bad. I caught it early though and was told I didn't have a stroke. Still it was terrifying and excruciatingly painful. It's been 2 years since the clot. Not counting the aftermath and 2nd hospital stay.

Now my GYN is prescribing me another birth control pill for my endo issues. It's called norethindrone. I refused to take it after reading about the blood clot risk. Then I went to my latest appointment and she ensure me I should be fine. That she tripled check with her supervisor and found it to be the safest option. I'm scared to take it. Like it makes me want to cry just thinking about going through all that again. I'm lucky to be alive and functioning like a normal human being. I still think it messed up my memory a bit.

Has anyone had trouble with the birth control norethindrone? Should I try it? I want relief from endometriosis but I don't want to have a stroke or worse.

Wasn't sure what sub to post this to, so I'll post it here too. Does this mean I have deep endometriosis?

1. Retrocervical endometriosis in the cul-de-sac, abutting the anterior rectal wall.

2. Small uterine fibroids.

I swear I'm starting to have a laundry list of health issues if so. 😭

To add, I've been gaslit for years in relation to my period. I told them I was having spotting in the back as well, but was told it was just hemorrhoids. I went to the ER because the pain was agonizing and was told to take mortin along with a heating pad. No one wanted to take me serious and threw birth control at me, which almost killed me with a blood clot. I couldn't get through the exam and finally they order me a MRI. Like finally I see some results that show I'm not crazy.

1. Retrocervical endometriosis in the cul-de-sac, abutting the anterior rectal wall.

2. Small uterine fibroids.

Does this mean I have deep endometriosis?

I swear I'm starting to have a laundry list of health issues if so. 😭

Edit: To add, I've been gaslit for years in relation to my period. I told them I was having spotting in the back as well, but was told it was just hemorrhoids. I went to the ER because the pain was agonizing and was told to take mortin along with a heating pad. No one wanted to take me serious and threw birth control at me, which almost killed me with a blood clot. I couldn't get through the exam and finally they order me a MRI. Like finally I see some results that show I'm not crazy.

I posted on here a couple weeks ago. Can anyone decipher this genetic test? It saying I have congenial myasthenia gravis but I went to orthopedics today and they mentioned "collagenopathies" being concerning and rare so I'm not sure if I read it right.

One Pathogenic variant identified in COL6A2. COL6A2 is associated with a spectrum of autosomal dominant and recessive collagenopathies.

One Pathogenic variant identified in DOK7. DOK7 is associated with autosomal recessive congenital myasthenic syndrome.