u/buttcheek24

Hi! For background, I have a lot of mysterious issues resembling a genetic connective tissue disease (still no genes identified) plus skeletal issues. Some of the characteristics I have include midline defects, along with severe joint hypermobility, including life-long slipping rib syndrome (SRS).

I had a CT angiogram at the emergency room recently (unrelated). I was just looking at the images because I was curious what my rib cartilage was looking like. Obviously this was not the purpose of the scan and I recognize that, but I noticed a few apparent signs of SRS damage which is validating. What I can’t figure out, though - where is the xiphoid process?

To my knowledge it’s been there before, although I’ve never had a chest CT before so I can’t say for sure. Is it the little fang-shaped thing floating around? Is it just somehow gone? Does it seem like chronic damage or perhaps is it another congenital midline defect? I do not expect any definitive answers to these questions, I just thought it was fascinating and I’m curious if anyone has input!

i have a mysterious HCTD (features of cEDS and Loeys-Dietz but no confirmed gene) and have been dealing with slipping ribs since early childhood. i truly can’t tell you how many times i have popped a rib out just from bending, reaching, laying on my side, etc.

i recently had a chest CT angiogram for unrelated reasons, but thought it was interesting to see the condition of my costal cartilage. i think it’s kind of validating? like there’s obvious wear and tear with atrophy and probably fractures throughout. has anyone else had similar findings on their scans?

For background I have a lot of LDS features, my genetic panel did not find anything obvious but I have some VUS that might be relevant. Anyway, I was looking over a recent neck CTA that I had done in the ER, and I feel like things are looking a bit twisty… am I wrong? Obviously I’m not looking for a diagnosis or anything, just curious if it’s worth pointing out to my doctor!

cw: minor discussion of parent-child emotional ab*se

unrelated pic of my hand looking like a tomato during a flare 🍅

hi folks, i have a potentially strange request.

i feel like i should inform my parents of my MCAS diagnosis. for some background- i have an especially complicated relationship with my mom. she is very unstable and i maintain relatively low contact with her. but i still love my parents, and i want them to know general life updates including major diagnoses. they know of my EDS diagnosis and i want to also fill them in about my MCAS, but i don’t want to fuel my mom’s anxious attachment behaviors by letting her believe i’m actively dying or anything.

so basically, i want to send her an educational resource that accurately describes the disease but doesn’t contain trigger words like “life-threatening” “progressive” etc. ideally i don’t have to put the labor into crafting something myself. it would be better for everyone if i can just text her a link or screenshot that covers the basics, explains why i need lifelong treatment, and doesn’t raise any red flags about my safety. ideally, not a direct link to a website like TMS which she’d be tempted to explore. she won’t google things on her own, but she will click around a site that i link her to.

does anyone here know of such a resource?

also, any general advice for how to navigate this? i have a fantastic therapist so i’m not looking for opinions on my situation, i’m just wondering if anyone has dealt with this before and can share their experiences. thank you! 🫶

Hi folks, I am new here and trying to figure out what’s up with my health. I have a clinical diagnosis of hEDS but actually kind of considered “undifferentiated” due to significant and unusual systemic involvement. I was just going back through my Invitae results more closely and started thought-spiraling about possible Loeys-Dietz Syndrome that wasn’t caught, potentially a currently undiscovered type?

(disclaimer, the screenshot is from Sequencing but the genetic data was uploaded from Invitae)

I have 2 notable mutations on my TGFB1 gene, which seems to be the only TGF-related gene that is not currently known to cause LDS. The first mutation is a SNP which causes Leucine to replace Proline10 (P10L). This variant was studied for several things in the early 2000s - possible cancer risks, cystic fibrosis, and most notably, possible increased risk of aortic aneurysm/dissection. Results were not very conclusive though and nothing has been published on it since like 2013 (from what I can find).

The other is actually an ultra-rare, in-frame Leucine chain insertion right beside the first one (at Leu9-Pro10, or in my case, Leu9-Leu10). This insertion was reported as a VUS because there is only one other reported clinical finding, which wasn’t able to determine the pathogenicity.

So we end up replacing “Leu-Pro” with “Leu-Leu-Leu-Leu-Leu-Leu.” This seems a bit dramatic compared to the P10L variant which is already considered a cardiovascular risk factor.

I also understand that TGFB1 is involved in the SMAD signaling pathway for collagen gene expression. I do tend to align quite well with the diagnostic criteria for LDS Type III but with some differences. I have been screened for major vessel issues and so far I haven’t had any notable abnormalities found on chest, neck, and brain CTs.

Here’s everything:

1. Mast cell activation type symptoms
2. Atrial septal aneurysm (without ASD/PFO)
3. Migraine with aura
4. Premature osteoarthritis
5. Slipping rib syndrome (visible cartilage damage on CT)
6. Thin, fragile skin that tears easily, with easy bruising, delayed wound healing, atrophic scarring, and mild papyraceous scarring
7. Flat feet with severe ankle instability

I am just curious if anyone here is educated enough on this syndrome to help me decide if it’s worth pursuing a diagnosis. Geneticists in my area have notoriously closed their doors to all hEDS patients, so getting an appointment will be very difficult without a particularly strong reason. Have I taken this rabbit hole too far?

edit: also forgot to mention myopia, progressive astigmatisms, and blue sclerae