u/perfect_fifths

I think it’s been about two weeks since my last update, and I probably won’t have one for a bit. But basically I got sent to the hospital from my cardiologists office because my hr was 143 and I was telling them I was short of breath when walking, so they just wanted to rule out a pe. Which I didn’t have. Because I have a loop recorder, they made me stay a day to talk to electrophysiology and the device rep to interrogate my device and the stupid thing was set to 188 and didn’t have any events showing. I think that’s partly why DDS is saying I have medical improvement. I told the device rep it needs to be lowered to 140 and he even admitted the setting was way too high for my needs. Because when I send in a manual transmission to the office, it confirms tachycardia but not through automated reports. However, I don’t know exactly until I get my file, which I still don’t have and put in for a congressional inquiry as it’s been almost 3 weeks since my request. I really need to see what evidence was used and the DDE.

Also at the hospital, every time I got up to use the bathroom a few feet away or brush my teeth my hr was 130-140 plus on the telemetry monitor, so it isn’t just a one time thing.

I still haven’t heard back from one lawyer and it’s been almost a week, legal aid can’t take my case because I don’t have ssi and their funding only allows for ssi cases, so calling nosscr is my next step I guess.

And then on top of that, my neuro made me do an eeg yesterday because I have told him for years I get these dizzy spells that come out of nowhere and get drop attacks so he wanted to rule out seizures, and I kept twitching during the light strobe portion of the test and the tech asked me if I wanted to stop because I started crying. I told her no, let’s just keep going. I was able to get through it but I was so worn out and my muscles were fatigued in the end. He also did some scans of the cervical and thoracic spine (some arthritis in the neck, some disc dissecstion and bulging disks and c7 radiculapothy) but the bigger thing is I have to also see a neurosurgeon because I have hydrosyringomelia from Chiari I malformation, spanning t7-t10 and tbh likely nothing is going to happen and it’s just going to be left untouched.

And I still can’t take a shower standing up from pots but I have “medical improvement”and trying to fight this is just unnecessary stress I do not need right now. I’m sure I sound like a broken record and I’m sorry. I’m not even an anxious person, I just hate that:

a) this feels like how I felt with being diagnosed with pots all over again and my medicine
(Beta blockers) just aren’t cutting it anymore for some reason, maybe because I keep getting sick all the time and I’ve had one too many viruses. I’m sick with germs every other month and was sick with a virus from April until May. I have had immune system testing and my geneticist says it’s an “adaptive and innate immune issue” secondary to a probable connective tissue disorder, since I have elevated cytokines and low B cells. She thinks that is why I had the viral pericarditis that caused the hyperpots to begin with, and why I have had repeated bouts of sepsis, costochondritis, and just get sick with every bug that goes around. (These are all in the notes which I also sent in as evidence with the appeal paperwork. I hope it helps :/)

My next geneticist visit is in August because I have to have whole genome sequencing and meet with a second geneticist (so I don’t have to pay for wgs and also have a more in depth exam/assessment)

b) it reminds me of kind of like applying for benefits to begin with except you get less help because lawyers are less likely to take cdr cases

c) you don’t hear too many stories about cessations and personal victories so I don’t have that data, and I have never been through this before. And I appreciate those that have given advice and have tried to help this far, truly.

I just wanted to share my own experience with the eeg.

I don’t know why my neuro ordered it, Maybe because I have random dizzy spells and when these happen, I lose muscle tone and can’t move my body or hold any of my limbs up for a small amount of time. My body feels heavy and weighed down. I call them drop attacks. I only started seeing my neurologist because I had a stroke last year. But I figured if I’m seeing him for the stroke, might as well tell him about the dizzy spells I’ve had for years.

Anyways, I walked in thinking ok, lights. I have some photophobia to begin with but I thought it wouldn’t be a big deal. You know, migraine with auras, bright lights bother me, light sensitivity (even the sun hurts my eyes). But holy crap once the lights hit I started twitching and crying and every light pattern made me twitch/jerk (arms/legs etc) and I got no relief until the damn lights stopped strobing. The hyperventilation part was actually the easiest for me. I felt so tired and worn out at the end. The tech even asked if I wanted to stop at one point and I said no, it’s ok. Let’s just do it.

I never want to go through that again. I guess I’ll get the results and knowing me it’ll probably be normal. But yeah, terrible.

Legal aid called me back today, and even though I meet the income guidelines, I dont qualify because I am on SSDI. They are only allowed to take SSI cases. The lady on the phone gave me a referral to lawyers who take cdr contigency cases, however I am not sure how that will work out as contigency in this case means giving up your monthly payments until the case is resolved and then paying 25 percent of the back pay. I can't afford to go without any income at all. So maybe some lawyer can come up with an 25 percent agreement of monthly payments, or some kind of retainer I can afford (instead of asking for two payments of 4600 like one did, and then refunding me the difference if it gets resolved before the alj). I also have another option of someone who can do it for much cheaper at 2500ish so I will probably go that route.

In the meantime, I am still waiting for my file. It's been almost two weeks but I've heard it can take up to a month to get, though so it's about patience.

It still feels like a sick joke. Yesterday I went to Whole Foods just to buy my kid some mac and cheese and I felt so sick from walking and standing that I had to hurry up and pay and then sit. When I looked at my watch, it said my hr was 143 so I called my cardiologists office when I got home and sent over a loop recorder transmission which confirmed tachycardia and I have an appt Monday since I have been getting more winded lately and I can feel more episodes of stuff. But hey, medical improvement! (sarcasm)

I am trying to report a user to actual Reddit admins but I don’t know how. This person is contacting people in my subreddit and several subreddits claiming to help people with disability claims. They have NO credentials to do so. I know this because forty days ago they asked a basic question and didn’t know the difference between a regular alj hearing and a remand hearing.

Now they are advertising “no upfront” fees to people and created their own subreddit. If I report their profile it only gives me an option to report their name or bio. I need to report their actual sleaziness. They are contacting sub members privately through chats.

I am on mobile (iOS) but can also use pc.

u/first-seaweed-5752 may have reached out and sent chat requests saying they’ll “help you”. I do not know if he did for sure here but I am posting out of concern.

There are people who are vetted and trust worthy. He is not one of them. In fact, only 40 days ago, he asked a question in the SS sub.

“What’s the difference between a regular hearing and a remand hearing?

Been fighting since 2023, just want to know if my chances go up or stay the same. In my remand order, the appeals council found that the alj at my hearing made some mistakes.”

If they don’t even know the difference between the two they have no business helping others. This is a very basic thing that anyone who knows policy or claims should be able to point out. A remand hearing is essential a “redo”. It’s when the AC finds an issue with the original hearing the alj held. There must be an error in the law made. Remands are a common action after a denial. 80 percent of cases are denied at the AC level, 16, percent remanded, 3 percent dismissed and 1 to 5 percent approved directly.

It’s sad that people with zero knowledge of the process think they can just do what they want. I am glad though that we have such a great community made up of many kinds of people here. We have former aljs, disability lawyers, retired and current SS workers, adjudicators and others. Now, sub rules prevent current DDS and SS employees from outing themselves, but lawyers, former aljs, retired SSA and DDS staff etc are free to say so and usually do. It takes a village and all and I like our little village.

(Also made a typo, meant to say “do not respond to random requests”)

After 18 years of ssdi, I got a cessation letter saying medical improvement was found. I know that’s not true. I still have the disabling impairment originally, which is pots and then I had a stroke last year. DDS never contacted four or so of the doctors I listed on the cdr paperwork. Only one and based their decision on that I guess and I requested a copy of my file and the DDE (determination explanation) and I also called legal aid in case I need help fighting the cessation.

I appealed and I handed in everything Monday and there’s proof. I elected all benefits to continue including a Medicare as I am a dual SNP. I just want to make sure that my health insurance continues and there won’t be interruptions because I have a few appts coming up that are important etc and I don’t know if the state gets notified of dis enrollment and then a pause of someone chooses to appeal the cessation. It’s a very scary time for me. And I already renewed my Medicaid for the year a few months ago. But I know my plan is contingent on Medicare too as a dual snp

I dropped all the required forms off at the office today. It was super speedy and the guy at the window stamped the date on the paperwork as proof that they received it today so my payments will continue at least. I also requested a copy of my file. I also called legal aid. They did a quick phone intake and said I’ll get a call in 2-4 days.

I do have questions about the policy for genetic testing/how genetic diseases are adjudicated. I noticed they never contacted my geneticist which is a shame because without that, a lot of valuable info is missing. Her notes are very thorough and summarize everything. Not just my genetic disease but collections of hospital records and other notes from other offices and it documents who I saw and when and why and for what and my past and current complaints etc. but basically this is what I understand:

Genetic tests: DI 24515.079 Genetic Tests

My genetic testing was done through Invitae. My child was tested first and then me (March 2025). the geneticist ordered it for me although clinically I would have been diagnosed because I literally look like everyone else who has TRPS (trichorhinophalangeal syndrome). I am only one of two outside of my family in the world that we know of with this genetic mutation (which is listed in the notes as well). It’s a frameshift mutation (missing two base pairs) with complete penetrance with autosomal dominant inheritance so based on other FS mutations, geneticists can predict what it does to TRPS patients. (Again, all that info is in the notes, which included in the appeal paperwork)

I understand genetic testing unless it’s non mosaic DS by itself doesn’t equal a finding of disability. That is fine. My geneticist noted the findings on exam consistent with my diagnosis of TRPS such as large joint abnormalities, because the orthopedist found hip dysplasia which I sent the mri reports to the FO electronically. But until my cd comes I don’t know if they ever actually got that or understood given that they also didn’t get my ortho records. Most of the time, hip dysplasia is DDH. Not with TRPS. This develops as an adult. This is cited in medical literature but this exact point probably doesn’t matter, this is more of a general awareness only because doctors assume all hip dysplasia is DDH and in my case it is not.

That of course, is not my only problem. But I wanted to ask really more about the genetic part because I have to go back to genetics and meet with a second clinical geneticist in August so that I don’t have to pay out of pocket for wgs. And I want to make sure that my issues are really really well documented to keep up with the documentation the other geneticist is doing (which is fantastic).

I really hope to have a good outcome but obviously I still worry a bit because this an unknown thing for me. I pray that the new examiner looks at the evidence and the new notes I submitted from my geneticist and sees that there’s a clear issue. Every time I think about the recon hearing I get scared.

Normally, posts have to contain a question so I’ll still include one to keep on topic but I have a few things to say.

First and foremost, for the people behind the scenes who have offered advice and help, thank you truly from the bottom of my heart. I had just gotten out of the hospital Saturday for a possible TIA and the cessation letter arrived that day. So not only did I go through yet another unexplained neurological event one year after having my stroke (also unexplained), but then a cessation happened after 18 years of being on disability, after passing four previous cdrs. Usually I’m the advice giver. I cite the rules and regs. Policy says this, policy says that. I know the stats on cdrs. But when it comes to my own problem, I freaked out. And don’t worry, I am seeing my neuro tomorrow.

Second, I filled out all the required forms and dropped it off at the fo. I haven’t been to the fo in over a decade, and the last fo was in a different county, before I moved. Even with an appt, I waited hours then. This was a different and very good experience. In and out in 10 mins total, got called after 4 mins of waiting. Person at the window went through all my forms, I asked for it to be date stamped as proof, no problem and I will get my file at some point on a cd. The guy even said good job with having all the forms and I said “I had some good help”. (Aka a nod to you guys who have helped behind the scenes). The people behind the counter are just like you and me. They’re there to do a job, no more no less. Please don’t get angry at them because you’re unhappy with an outcome. Even with me being ceased I am not mad at the person who ceased me. Maybe they were poorly trained. Maybe they genuinely made errors they didn’t mean to make and forgot to contact the drs I listed. I don’t know.

Third, it’s been pointed out that I may have had a bad examiner at DDS. I really don’t know because I admit I’m blind to that stuff. I try to understand the DDS side. I do know they didn’t contact some of the doctors I listed. Doesn’t matter. Can’t change the past. Can only change the future. Again, I am not holding a grudge.

Fourth, I *have* been complaining to doctors about symptoms I’ve been experiencing lately but because some were not contacted that info didn’t get shared. Also without the cd I don’t know what evidence was used. Once I get the cd that will be more eye opening. But I will continue to speak up and try to advocate for myself.

Fifth, for anyone who has actually gone through the recon hearing for cdr cessation, what is it like? When I read the policy I started crying thinking about the idea of sitting down with someone and going over evidence and trying to sort this out.

Oh and I called legal aid for some help, just in case I need any.

My last cdr was in 2022. This one just finished and initiated Sept 2025. It says medical improvement. I only made 4000 dollars working last year. So it wasnt sga. And I was diagnosed with skeletal dysplasia last year and then had a stroke a few months later. I have not missed appointments. I’ve even been telling my cardiologist I get out of breath while walking lately sometimes, and while I don’t have major neuro deficits from my stroke,I have minor ones. Like pronator drift of my arms (where the left one drift downwards if I try to keep I up) and I also have leg weakness etc. I keep having random dizzy spells where I can’t keep my body up at all. I literally got out of the hospital today because I got dizzy yesterday and then had numbness on the left side of my body. No stroke, but something is happening.

Obviously, I have to appeal. And I plan to, but I’m so scared and every time I think about having to go to a hearing by myself I break down. And I’m normally a very rational person.

So, if anyone has any advice who has been through a medical cessation, please let me know what you did for it. It didn’t give details, just said medical improvement, which I am not sure how considering 3 years ago I didn’t have a stroke, or diastolic dysfunction, etc. I’m going to mail the appeal form on Monday, certified with return receipt. I’ve been on ssdi for nearly 20 years at this point.

I got very very dizzy all of a sudden while laying down in my bed, watching tv. Then when the dizziness stopped, my right side went numb and tingly. I had a PCA stroke a year ago, similar symptoms except on the left side of my body. Difference is there was no sudden, severe headache and my arm doesn’t feel like it weighs a million pounds. But I do have minor, neuro deficits like weakness and motor drift and reduced touch sensation on my right side.

Ct of my head and neck came back clear and they’re doing an MRI tonight. I’ve seen a few neurologists today, had no less than a half dozen neuro checks, and started on plavix.

So, I guess it all rides on what the mri says and I’m just really frustrated because this crap is scary and they still don’t know what caused my first one. I have to get whole genome sequencing because my geneticist suspects I have an underlying issue at play but that won’t be until August. And it can’t be a recrudescence because my PCA stroke was on the left side of the body.

Okay, so I’m going to try not to ramble on too much here and just give a concise synopsis of what’s going on.

I initially saw my geneticist because I wanted guidance on my rare disease, after she had seen my son and we got diagnosed with TRPS type 1. But before that happened, I had a stroke at 40. An unexplained one at that.

So, after going through family history and based on my visit yesterday etc she told me that I have a lot of issues but it can’t be pinpointed. She broke it up into three main problems which are:

1) Strong personal and family Hx of cardiovascular problems, including structural / connective tissue abnormalities

2) Strong family Hx of cancer

3) Personal and family Hx of immune-related issues

Now, there’s a lot more info in those notes but for brevity’s sake I am not going to go through it all in the post but am happy to elaborate in comments or as needed.

“Because there are multiple potentially overlapping syndromic phenotypes here, including the possibility of more than 1 connective tissue-related condition in addition to (my name) known TRPS I, I would like Dr. So and So to assess (my name) in his clinic for more detailed dysmorphology evaluation.”

Now, I have never been diagnosed with a CTD, and I am not claiming to have one. It’s the geneticist who thinks that could be going on based in the following:

Indication: BAV, MVP, large-joint arthralgias, high myopia (FBN1), recurrent pregnancy loss/cervical incompetence (maternal stillbirths), keratoconus-adjacent ocular disease, and intracranial occlusive arteriopathy leading to early stroke.

It’s also very hard to separate CTD with my skeletal dysplasia because of the overlap of symptoms. But nonetheless, CTD and aortopathy are the two things she is most concerned with.

The conclusion is I need WGS (her words). In order to do so, I need to see this one specific dr because he has connections and clout due to running a genomics division and can apparently finagle away for me to get WGS with grant money from his dept.

Of course, I am going to do it but mentally, my mind is split. I know WGS has a max diagnostic yield of like 45 or so percent when it comes to finding an answer. So, there’s a chance I may never know what’s going on. I also feel like the chances of me having two rare diseases or finding an answer is just statistically unlikely. But them on the flip side, I know that I have to at least try and I thought that once I was diagnosed with TRPS, it explained my problems until I found put that it doesn’t. The geneticist was clear that the TRPS only explains a very very small part of my issues.

So, it’s frustrating because I want to know but I have to be ok with the idea that I may never know. And it’s sad because so many of my relatives also died not knowing they also had TRPS. And I particularly think about my uncle a lot because he had TRPS and then had to have a valve replaced because that caused heart failure on him, so he had surgery. Then he got endocarditis but also several types of cancer (lymphoma, leukemia and then myelofibrosis, it happened before the heart failure) and he died of myelofibrosis. He didn’t even make it to 60. And then his brother, also with TRPS had a heart attack and died from that and didn’t make it to 60. Then this year, I found out my aunt has had bladder cancer and growths that were removed twice. Then my mom got diagnosed with renal cell carcinoma and had a partial nephrectomy this year. And she has heart failure too, supposedly caused by a thyroid storm from Graves’ disease. Then the echo I had after my stroke said I have diastolic dysfunction.

And I didn’t even touch on the topic of my developmental delays, learning disabilities and my apparently herniated brain, which I found out because of the mri that I had to have for my stroke. There’s just so much to go through and none of it points into one single direction that says “hey, it’s likely you have xyz”.

My stroke is unexplained. As it is for many people. I know I am not the only one out there.

I already see a geneticist because I have a rare form of skeletal dysplasia that about 200ish people in the world have. There’s only one case report of a woman with my condition who had two ischemic strokes at 54 and 55, due to a combo of a fib and severe mitral valve disease, and heart problems happen with my form of skeletal dysplasia. But I do not have a fib (I have a loop recorder for AVNRT and have undergone an ep study so I know I don’t). And while I have mitral valve disease, mine isn’t severe like this patients was, and I was 40 at the time of my stroke.

I also want to say that my testing was normal in the hospital and all common causes have been ruled out. So no pfo, etc.

The problem is, I have a lot of overlap in issues that doesn’t point to one exact thing. I think my geneticists notes speak for itself. Which I have abbreviated to cut down so the post isn’t so long:

“(My name) has a number of disparate concerns apart from her known TRPS I, which fails to explain the following groups of issues:

Strong personal and family Hx of cardiovascular problems, including structural / connective tissue abnormalities

- Monogenic-stroke/small-vessel panel (Prevention Cerebral Small Vessel Disease Panel, Mayo Comprehensive Cerebrovascular Gene Panel)

Indication: PCA CVA and ongoing neuro picture.

COL4A1 can unify cerebral arteriopathy + congenital VUR/nephropathy (HANAC) + muscle cramps (leg pains) + ocular findings

- GLA enzyme testing/gene sequencing

Indication: Stroke + diastolic dysfunction + valve disease + the bilateral leg pains (acroparesthesias) + fatigue — treatable, so don't-miss.

- mtDNA analysis
 
(Insert other groups of concern etc)

This is why genome is truly necessary to help us evaluate altogether the potential monogenic etiologies and genetic landscapes associated with her other groups of problems, which may be separable into at least 3-4 groups. Because there are multiple potentially overlapping syndromic phenotypes here, including the possibility of more than 1 connective tissue-related condition in addition to (my name) known TRPS I, I would like Dr. (so and so) to assess (my name) in their clinic for more detailed dysmorphology evaluation.”

As for family, pretty much everyone on both sides has either had a heart attack, stroke, or heart failure of some form. So, the geneticist is pushing for wgs to see if I have some kind of genetic problem. My question is if anyone has had wgs or genetic testing and it came back positive (not for hypercoagulation ) and explained your stroke.

I know wgs isn’t guaranteed to reveal anything, and it’s still possible I may never know my cause but at least if I go through with it then I can say I’ve explored every avenue.

I just had an appt with my geneticist and she said Medicare is a problem with approving wgs. She said out of pocket, wgs would be 2500. (The company has to be licensed in ny) and there’s another company that would be cheaper but they’re waiting to be licensed in ny

The other option is to go panel by panel as we rule things out and there’s some grant money she can prob get out of this fund her colleague has connections to, as she says her biggest concern is the heart stuff and my and my unexplained stroke.

She says my main issue is that I have a lot of overlap of different things rather than something clear cut that could be causing my problems.

(She says insurance is more likely to approve panels)

So my question is if anyone knows of wgs testing that is maybe cheaper than 2k cash price/out of pocket. I think gene dx offers income based sliding scale stuff/assistance which would be perfect for me, and I will look into that.

It’s not even remotely close to my actual bs readings. It’ll tell me I’m under 55 but I’ll be in the 80s, etc so I started tracking my daily sugars fasting with a glucometer and my readings have been:

89, 118, 52, 38, 120, 96 and 76. This is after fasting for at least 12 hours and I wake up around 7-8 am. Sometimes 9 (on the weekends)

So, I have no idea what’s actually going on. Another dr ordered a1c testing which is being done tomorrow.

I don’t know exactly what is going on but my endo appt is at the end of the month.

Today I had an appt to see an immunologist/allergist because I keep getting sick all the time and also have allergic reactions and hives but I don’t know the cause of it. Only one on my allergies is a food, I was born with it, the rest are med allergies. But then I also don’t know some of my triggers and it just happens randomly.

So I got a buttload of lab orders but according to the allergist, I can’t have anaphylaxis because she said Benadryl doesn’t respond to it. Yet, my throat closes when I have some allergic reactions (like to cancel gluconate and contrast). So if it’s not anaphylaxis then what is it?

She also said I need to see a neurovascular specialist to get to the bottom of my stroke, and said aspirin isn’t enough and I should be in something like plavix. But I’ve asked my regular neuro if aspirin alone is enough and he says yes. The cause for my stroke has not been identified

She also said that my labs run by my geneticist (who runs a blood and immunity clinic at a prestigious hospital and is the director) don’t really mean anything. It showed a low cd19 count and elevated il-2r, il-10, and il-8 and doesn’t think I have an immune system disorder, and that my constant infections don’t count because they’re all run of the mill stuff (she seemed to only focus on pneumonia and sinus infections or fungal infections, saying if I don’t have those then it’s not suggestive of immune dysfunction). Yet my geneticist has told me that my medical history is weird in that I shouldn’t be getting multiple bouts of cellulitis, sepsis etc.

So I left the appt kind of confused but I guess we’ll see what the labs show. It’s Igg subclasses, tryptase and other stuff and then a skin prick test in 2 weeks.

And she asked me why I haven’t seen a gastro with chronic diarrhea and I told her I didn’t think it was a big deal. So…I went and made an appt with one to try to sort that out.

I saw am immunologist/allergist today because I keep having reactions to things and other issues and we went over my medical history. She asked me what is being done to prevent another stroke, and I said I was only placed on aspirin for stroke prevention. She seemed disturbed by this and referred me to a neurologist who specializes in strokes (neuro vascular doctor) especially because the cause of my stroke has also not been determined.

So I’m curious how many of you were told aspirin alone is enough, and who was not and is on something additional like plavix.

My neurologist says that’s all that is necessary when I asked him if aspirin alone is sufficient.

I don’t know about you guys but it drives me nuts. The Facebook group for my condition is so small, and people have no idea what they’re talking about sometimes.

For example, it’s been shown that’s trps1 is expressed in certain cancers so people in the group take it to mean they will get cancer. No. I openly share my geneticists notes about TRPS and cancer specifically, because that was a question I had myself given that my uncle died from myelofibrosis after beating lymphoma and leukemia. My geneticist specifically has said germline mutations of the trps1 gene don’t increase your cancer risk.

And then, they spread it as if it’s fact and freak out other people because they don’t understand context and how to interpret clinical journals.

But on top of that they say other things that aren’t true and it is so annoying because I’ll say “clinical journals don’t support what you’re saying” and honestly, a lot of people in the group aren’t medically savvy. Or I’ll say “that’s not true according to my geneticist”. And my geneticist is a director of a bunch of different programs, she’s brilliant and knows what she is talking about. Yesterday someone posted they have a bacterial skin infection and wanted to know if it’s caused by our condition. It’s not. It’s like people try to attribute every little health problem to this one thing when likely, there are other things going on, on top of having TRPS