u/perfect_fifths

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

Over the last year, my fasting blood sugar has been between 99 to 104 that I know of. I had a stroke in June, blood sugar was 99 and triglycerides/cholesterol normal. The cause for it was never found.

In January, my bs was 104 fasting (after vomiting etc)

In March my fasting blood sugar was 104

My doctor hasn’t really said anything, and I don’t know my a1c. But I know from my hospital admission on Jan I also have a fatty liver.

However, given that mutltiple fasting readings have been in the pre diabetic range, perhaps I am.

I do have some weight to lose, I went from 185 to 174 (current weight) at 5’7 so far with a glp1. I’d like to end up around 130ish lbs when all is said and done.

I didn’t really know what my cbc said until the other day, as the doctors office informed me that everything was “fine”.

I do like refined carbs and eat too much junk so obviously I’m cutting back on that stuff. But I also wonder if anyone has sugars that were a little high and not too high and if they ended up being diagnosed as pre diabetic or what. And other then some diet changes if I need to start tracking my sugars or something since I’m not getting any guidance from my actual doctor.

I thought that once I got my diagnosis of TRPS, that was going to be the end of it. Case closed, mystery solved.

My son was tested last winter and was positive so I knew he had inherited it from me. Okay great. It was an answer. I even read in clinical journals that TRPS predisposes you to respiratory infections. So that made sense to me, as I get sick all the time and have had repeat bouts of sepsis, costochondritis, sepsis (different causes), pericarditis, cellulitis (different causes) etc.

Then in June I had a right PCA stroke due to a blood clot and it was labeled cryptogenic. I had a week of tests and everything was normal. So, no high blood pressure (it is controlled well), no avm, no, pfo, no aps, nothing.

In July, I had a formal appointment with my geneticist and went over my history. She said something else is going on given that my family members and I have had multiple bouts of sepsis etc and we are breaking into rashes and having random allergic reactions to things etc (she is both a clinical geneticist and director of a rare disease center and director of an immunity and blood clinic). and because I had VUR related to TRPS I was always on antibiotics anyways as a kid.
In July, I had a bunch of blood work done which showed a low cd19 count and elevated il-2r, il-8, and il-10. But the rest of the counts and tests were normal like the iga, igm, ige levels and mitogen panel.

at the end of January, I woke up with severe abdominal pain at 2:30 followed by vomiting and diarrhea and an ambulance was called 2 hrs later because the pain was so bad (never had pain that bad). Ct scan was done and I had an anaphylactic reaction to contrast, and it was terrible. My throat closed up within two minutes of the medication being administered, and my chest was hurting. My lactate was 7.6, my wbc was 14k something , and my pct level was .19 and my bp 74/41 so the doctor admitted me for sepsis. A gi panel was done and negative so they said it was viral gastroenteritis (unknown as to which one) and I was able to go home after a few days. Right before this, I had a little bit of a sore throat and an ulcer in my mouth so I had figured I was getting sick but my throat got better and then a few days later the sepsis happened.

Now I am sick again because a nurse was sick and gave it to me, and I’ve been sick for two weeks and also had costochondritis that started right as I was getting sick.

I was also supposed to have a follow up but then the GC left without warning and no communication so my request for an appt went unanswered until my geneticist contacted me two days ago.

The plan is to do wgs with mito dna testing, specifically trio testing and then reflex testing if wgs is negative. But there’s what…only a 40 percent chance that I’ll even find an answer if there’s a genetic basis. Apparently this was the plan months ago but the GC took a lot of paperwork with her so a lot of it got lost.

Anyways, I’m hoping someone can relate to having to under go multiple odysseys and understands the frustration of it all.

I am not asking for a diagnosis. There’s a plan in place. It’s more about the fact that I thought my rare disease diagnosis was going to be the answer to everything and it was not.

From what I gather, the geneticist is going to do wgs testing first then reflex testing because I have odd immune system issues and my mom is experiencing the same. While clinical texts say TRPS includes a predisposition to uris, my issues are going beyond this. Recurring bouts of sepsis from different causes (some bacterial, some viral), multiple bouts of cellulitis, recurring costochondritis, pericarditis, etc and I am sick every two months with something.

In July, I had a cytokine panel, lymphocyte subsets, mitogen panel etc. but I don’t know what the context of the results means yet, I will find out end of May as that’s my next appt. I know cd19 count is low and I few cytokines are elevated, specifically il-2r, il-8, and il-10. Luckily, my geneticist is also the director of an immunity clinic and she’s determined to help figure this out. All other values were normal. my stroke is also still a mystery.

Anyways. Due to all this she is going to do wgs first then reflex testing.

“From a genetic testing perspective, (name) needs firstline broad and timely NGS testing given the high suspicion for a GBI, the strong potential actionability of a molecular diagnosis, and implications for her/his family members, so we will begin with clinical-
grade whole genome sequencing (WGS) and reflex to research testing if negative/inconclusive”

So I was just wondering what the difference is between the two. I do understand science has a limit, and I may not even find answers. But at least I can say we tried.

Also, apparently me and several hundred other patients were affected with patient care due to a situation and my last visit was in July but was supposed to be two months later. I was due to have testing thorough genedx according to my geneticists email (that may be the wgs she was talking about) but when her GC quit with no communication, she left many papers unsigned, or they got lost/disappeared. I was wondering why my request for an appt went unanswered.

Need two mods for the sub. Two have been removed for being inactive. The two I have left are helpful but it shouldn't be just the same two people doing it all.

Helpful if you know policy. if you have knowledge then you are free to volunteer but still stick to the sub rules (eg no public id'ing as an employee). You don't need to have mod experience, I can help you learn the ropes.

You can send a modmail privately and we will talk! You dont have to be modding every day, but I expect a mod to be somewhat active.

Client: hi? Do you have availability from May 1st through May 11th for my rabbit?

Me: hi! Sorry, I do not. I am not available until May 11th as I have bookings, but I can refer you to (sitter name and number)

Client: okay, thanks!

Client (in separate emails to follow): does sitter have a website or email?

Me: no she does not, you will need to contact her by phone

Client: okay and does she have animals?

Me: I have used her in the past myself so she is trust worthy. she has a dog but she keeps the rabbits separate in an air conditioned basement where she works from home and the dog does not go anywhere near the bunnies

Client: okay and do you have to bring anything?

Me: yes I did, she provided pens and I brought litter boxes, food bowls etc.

Client: and do you have availability?

Me: as I stated, no I do not. I have two bookings. One is through March 5th and another one through March 10th. So the earliest available date is May 11th

I said I was unavailable. I referred her to an appropriate person. I don’t mind elaborating or answering follow up questions but if I say I’m not available I am not available. Why would I lie and lose out on money otherwise? And why would I give you her number if I knew she had a website or email?