#rare condition

[unbfacts]

[notunknownbluejay]

”having a rare disorder is probably the same as with a common one-“

Having a rare disorder is going for months without diagnosis

having a rare disorder that’s in a common group if disorders is people saying they relate when they don’t

having a rare disorder that’s in a common groups of disorders is people attempting to relate and your first reaction being “no, you don’t”

Having a rare disorder is you starting at statistics wondering what went wrong

having a rare disorder is you’re friends wondering how your diagnosis “isn’t more serious”

having a rare disorder is people thinking they know what your talking about when they don’t

having a rare disorder is not being able to talk about it for fear of doxing yourself

having a rare disorder is isolation on top of a already bad wound, common ones are just the bad wound

[chiariokart]

plot twist: my brain has ˗ˏˋevacuated´ˎ˗ itself from my skull

To put it extremely simply, part of my brain is protruding out of my skull, and into my neck.

Hi! My name is chiariokart, and two weeks ago I was diagnosed with Chiari 1 Malformation. CM1 is a congenital neurological condition, where part of the cerebellum extends through the base of the skull, and into the spinal canal.

We just found out about it, but I've had it since birth.

In the first few days after my diagnosis, I was completely preoccupied with worry. I had actually suspected Chiari for months, but getting the diagnosis was still a massive shock. Maybe I'll write more about that another time.

Anyways, after the initial first days of disbelief, I started diving into medical lectures and statistics. While there's a good amount of technical-sciencey info on the internet, I was equally interested in finding personal stories from others with Chiari.

Current statistics show that 68% of people with CM1 experience minor or no symptoms. For those who do have symptoms, they vary greatly from person to person. In my case, Chiari has caused large fluid-filled cysts to form in my spinal cord, contributing to my debilitating symptoms. It's been hard to find stories from others with a similar experience.

But then! I found a blog from a woman around my age, with a similar presentation to mine. She's already had decompression surgery, and has documented her recovery process so far. She shares resources, tips, and so much info about what helped her during her recovery.

Finding her blog was such a relief. It felt like most cases I'd read about online were either more mild, or more severe than mine. Reading her story was invaluable to me, I have some semblance of what could be ahead of me.

Even if my journey ends up being nothing like hers, pretending like I know what lies ahead has been keeping me sane.

As I go through all of these new medical experiences, and hopefully find the best treatment option for me, I want to document it all here. I want to give someone that same sense of security, knowing that life with Chiari might not be as scary as it seems.

I have so many plans for this blog, and not just about Chiari. My doctors and I are pretty convinced I have POTS. So, I want to share my experiences with testing: Tilt Table, MRIs, QSART. I have a million ideas. I can't wait to share and learn so much with this blog!

[witchyfemmee]

sometimes i think about the pain and suffering that was easily avoidable in my life but i was never taken seriously until it was to late.

[lifblogs]

My PCP said I've already been diagnosed with hereditary angioedema, and I have no idea why my allergist isn't treating me like I do. It's terrifying I don't have controller meds, or a rescue med.

So basically we have this stupid chain of amino acids called bradykinins in our body (tbh, if I saw that as a username on tumblr, it sounds like someone I'd block, lmfao), which they decide we should get inflamed when we don't feel good. To battle this we're supposed to have a C1 inhibitor, which tells it to calm down, hence why most people are fine. I do not have the C1 inhibitor, meaning my bradykinins like to tell my body to swell up till I'm dead, and it's been doing this tons and tons of times in the last year. My god, wtf.

[floralfairie]

Alright folks. Time for the daily dose of diary entry-like posts. And uhhh personal thoughts.

Also I will be mentioning the fatty and mammalian things common on a persons chest sooooo yeah.

So… I have this rare condition called Poland Syndrome. Basically it means that one side of my body doesn’t have certain upper body muscles/tissue, or undeveloped muscles. This can also affect the rib cage and other bones, and it is also common to affect a persons arm or hand as well. Pec muscles are typically absent or severely undeveloped, on one side. For some people, it is barely noticeable, and despite having a little weakness on one side, they can live pretty normal lives. Others are more severely affected, in which hands can be missing fingers, or have missing joints, muscles, webbed fingers, a smaller hand, and usually missing or smaller breasts or pecs on one side of the body.

While yes, it DOES count as a disability, many with my condition often feel slightly disconnected from other disabled people because we don’t “have it as bad” as imposter syndrome takes over, or that we could “fix” the “problem” with cosmetic surgery (thats only true in SOME cases for functionality’s sake… some MIGJT choose cosmetic surgery and treatment for personal reasons but it IS NOT covered my insurance even if severely debilitating mental health wise,AND it is so rare that most doctors don’t even know what Poland Syndrome IS.) some even CHOOSE to make their kids remove fingers they could otherwise use as they get older simply for cosmetic purposes because they’re afraid of the social stigma they could face as they get older. (Imo unless its for functionality, please don’t do surgical procedures on your kids, especially young ones, okay?)

Okay, now that THATS out of the way.

I have had PS my whole life, obviously. My hand on one side is severely affected, and I have limited mobility, but I still use it to some degree. But my main concern today is boobs.

Why? Well, because mine are two different sizes! You read that correctly! One is a C cup, and the other is smaller than an A cup. That one is the affected side.

I once heard the idea that Ps was an intersex condition, but had mixed feelings about it bc simply having boobs doesn’t INHERENTLY make them sexual. But, I also relate a LOT to what many intersex people experience in terms of this strange feeling of disconnect from your body sometimes, or that your body is one thing, your mind is fully another. I understand dysphoria to a certain extent BECAUSE I have experienced it. I DO experience it whenever I see each half of me in the mirror. The side of me that looks feminine and curvy , and the side of me thats flat chested and.. well, not. And I wonder, who am I really? What does my body MEAN?

I don’t really fit in any community, really, I am this floating being flying around facing disconnect whenever I see myself. I think, I am not beautiful enough. But then I am glad that I have practically no boob on one side because it’s easier to sleep on my stomach! And less sweat there.

I look good when I see myself dressed in ways I wouldn’t normally but would never go out in public that way. I am NOT an assertive and cheeky rogue who has stolen a strangers costume, but oh how I wish someday I could play the role.

I don’t know where to talk about this because frankly there are not many online spaces for people with PS. And its so rare that… well, there are not too many of us. I want to know if they ask the same questions. Do other women with PS ask the same questions?

I don’t want cosmetic surgery because I y my uneven chest is part of who I am. Plus, insurance would not cover it. Even if it’s what is causing my back pain.

I wonder how many people have looked at me and felt creeped out? Have pitied me? Have wanted to look away, rather than approach? Do they not see that when they shy away, it only makes me want to, too?

How obvious is my uneven chest? Can others tell?

When will a lover see me and walk away? Or laugh? Or be horrified? Why should I feel the need to disclose such personal information to someone, to anyone, even prior to intimacy simply to give them the chance to back out in case my condition is something they cannot handle? It is tiring. I just want to be seen and loved without the expectation of being rejected because of how I look. And then I get told I shouldn’t be so picky because I am lucky to get anyone and its like… uhhh no, everyone has a right to have standards.

I can be absolutely gorgeous and sexy when I want to be. But there is always that fear. When is someone going to notice my secret?

[like-this-post-if-you]

Like this post if you have a rare condition

[2022dirt]

Cats with Polydactyly.

Polydactyly is a condition in animals that results in extra fingers or toes. In addition to animals, this can happen to humans as well.

This is caused by a dominant gene mutation that is inherited from a parent. The gene associated with polydactyly is called Sonic Hedgehog, the same gene associated with this mutation in other animals, including humans.

A cat only needs one copy of the gene from either parent to have the trait, so if one parent has extra toes, 50% of their kittens will likely have it too.