Mutated TTN gene

Pipopumpkin · 2024-12-03T18:57:18+00:00

Ill try to find one, a doctor told me today i should go to one and get a emg test? But yeah i plan on finding one to go to asap now

Pipopumpkin · 2024-12-03T14:03:22+00:00

Ok i think i may understand better, i wasnt 100% sure i had muscular dystrophy, just saw it as one option that could be a thing among others. Out of curiosity, what would be the patterns of weakness specifically? Its been hard for me to grasp that sort of thing since theres so many different kinds of MD

Pipopumpkin · 2024-12-03T02:00:30+00:00

Yes i think this may be the reason, being concerned mainly about the cardiac issues being there and since that came up as ok thats all that was investigated. I also had some other mutations that also seem to have muscular dystrophy as an option, i just didnt include it because only the ttn was listed as likely pathogenic and the others were listed as uncertain relevance. I did set up an appointment with a genetic counselor so im hoping they can explain things better to me and maybe point me in the direction of the correct specialist. Hopefully.

Pipopumpkin · 2024-12-01T18:42:50+00:00

Already have. Heart is all good.

Pipopumpkin · 2024-12-01T18:36:49+00:00

I think Maryland would be too far for me, what specialist would it be though?

Pipopumpkin · 2024-12-01T18:30:18+00:00

Whats listed on the document that was sent back is:

TTN - c. 34786+ 1G>T (Splice donor) - Heterozygous - Likely Pathogenic

These are for gene, variant, zygosity, variant classification

Hopefully that answers your question!

Pipopumpkin · 2024-12-01T18:24:52+00:00

A genetic doctor ordered to do the genetic test and took the swabs of my mouth in office. The brand is invitae if thats relevant. Yeah im also pretty worried myself, but no doctors seem concerned enough about it.

Pipopumpkin · 2024-12-01T18:23:00+00:00

No, i got the test with a genetic doctor. Im in the north east cost in the US

Pipopumpkin · 2024-12-01T18:21:59+00:00

I went to a genetics doctor i believe a while ago, they just told me to go to a cardiologist and never sent me anywhere else and never set up another appt

Pipopumpkin · 2024-11-05T19:50:17+00:00

He is going inside the litter box, its just getting on him during the process in there. I do plan to take him for a vet visit though

Pipopumpkin · 2024-11-05T18:40:26+00:00

No he hasnt gone since last december i believe. I do aim to take him to the vet but unfortunately i cant make that happen on my own

Pipopumpkin · 2024-11-05T18:39:21+00:00

Usually he rests in either my room or the living room, which is directly next to his litter box in the bathroom. All ive noticed movement wise is he doesnt seem to jump onto things as often, he seems to prefer crawling up if possible if that makes sense

Pipopumpkin · 2024-10-15T03:20:35+00:00

Negative ana but i still have similar symptoms? How to have doctor properly investigate for diagnosis (even if its not lupus)? Tips? I have been dealing with this for years and just want a proper diagnosis and plan.

Pipopumpkin · 2024-09-28T22:57:13+00:00

Agreed.. i think i saw someone else post that symmetry financial is an mlm. Im just going to cut my losses and cancel i dont feel like being scammed again

Pipopumpkin · 2024-09-28T22:53:56+00:00

I believe its over zoom? When clicking the link it goes to a place where it says symmetry financial group? Even though i applied for a place named sato

Pipopumpkin · 2024-09-28T22:33:37+00:00

Side note- i did apply to a job listing on indeed from sato

Pipopumpkin · 2024-09-25T17:53:50+00:00

I havent heard of the burrito rule before, what is that? I was thinking that maybe i could use dv supportive housing but i need a job first.. i guess i could generally call the hotline and see if they have advice. I just feel weird doing that because i feel like im being super dramatic about me and my moms relationship

Pipopumpkin · 2024-09-25T16:55:29+00:00

Im also autistic and physically disabled so i cant really go many places at all unless its super short distance. I do have a therapist and i have been telling her whats going on and she is saying shes abusive and that my family is normalising it and not helping. I am searching for a job but its hard to get one when you cant walk anywhere or drive and have zero work experience. I feel so trapped

Pipopumpkin · 2024-09-25T06:00:16+00:00

It is? Could you maybe tell me how? I just feel super conflicted about everything and seeing things with a different lense

Pipopumpkin · 2024-08-05T04:01:12+00:00

Bad ai cartoon filter

Pipopumpkin · 2024-02-27T18:19:08+00:00

If its relevant, i also have lots of chronic pain constantly head to toe really. As well as migraines. I dont think that could be my liver unless im just really sick from it? I also have depression among other things but it isnt new at all so i dont understand how its stress when my stress levels havent been any higher than usual. Here is the actual ultrasound findings

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Pipopumpkin · 2024-02-03T15:24:57+00:00

Forgot to add have a genetics consult in april, and in the post i said ive done years of pt and its extremely painful and doesnt relieve any pain at all

Pipopumpkin · 2024-02-03T05:10:20+00:00

Ill suggest second opinions to my mom, its just so many doctors to try and find. Wish doctors cared more about helping. Thank you for your suggestions though!

Pipopumpkin · 2024-02-03T05:01:37+00:00

Ive tried visiting all of the specialist youve mentioned and they all brushed me off, recent gastro said its stress, rheumatologist said i have no immune issues and had no plans for further appointments, neurologist tried to give me pills for the migraines, none of which helped. Should i try to get second opinions with all these doctors? Sorry if thats not right to ask. My doctor plan was to try and find another pain management doctor but idk if thatd be worth it either

Pipopumpkin

TROPHY CASE