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bugbyte · 3 months

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Bug gets an hEDS diagnosis

So it's been a minute since I've talked about ongoing health stuff, but I learned some new things this week and I'm posting because it's possible this will help somebody else on the path of "I think I have EDS, what do I do about it?" Throwing this under a read more because it's probably going to be pretty long.

For clarity, I'm located in the US, so depending on where you are, your version of this process may be different. Also, obviously, none of this is meant as medical advice because I am not a doctor, this is just a rough retelling of what I've experienced because it is a long, frustrating process, and when I started I had no idea what I was getting into. It would have helped me a lot to read a personal account of what it's like to go through this, and I hope this can help someone else in the same position maybe.

Also, if this is you, don't give up. It is long and frustrating and hard, and not always easily accessible, but if you can, I have found it worth pursuing the diagnosis. I have so many more options to help me now than I did when I started.

So: after a year and a half of constant doctors appointments and tests and various kinds of therapy and other nightmares, I've finally got an actual official diagnosis. Like I (and several doctors) thought from the beginning, I have Ehlers-Danlos Syndrome, type 3 aka hypermobile Ehlers-Danlos aka hEDS. There are 13 subtypes of EDS that affect different types of connective tissue; type 3 is the most common, but is also the one type we do not know the gene for yet. (Although there is promising research happening currently and we might find the gene!)

The first step was explaining to my primary doctor the kind of issues that I have and just flat out stating that I've read about EDS, and it sounds absolutely strikingly like my lived experience. I emphasized that my joint pain and dislocations were impacting my quality of life and ability to work. She agreed, and referred me out to two other specialists: a physical medicine doctor, and a geneticist.

It then took about six months to get in to see the physical medicine doc, because every specialist under the sun is booked out until forever. You may have better or worse luck with this, but from what I've heard, wait times are awful everywhere. I was also sent for an echocardiogram, which is where they smear goop on your chest like an ultrasound and look at the size and shape of your heart. EDS can cause your heart tissue to stretch and potentially tear, which is bad for obvious reasons.

This doc (lucky for me) had a bunch of previous patients with EDS, and has slowly grown to pick up more over the years, which was really good news because it was easy to show and explain my problems. They set me up with physical therapy, some meds to try for the pain, referrals to a cardiologist, and sent a note to genetics to try and help expedite that process. (Spoiler: it did not help.)

At this point I should drop in this link, because there are a heap of good resources here that helped me a lot:

This person made several documents you can fill in the blanks on with your own information, which helps a) you understand what EDS is, b) explain EDS to doctors who don't know anything about it (more common than you'd think) and c) organize all the relevant information you need for appointments, bringing it up with your primary, and so forth. I discovered this a bit into my journey and it was so helpful.

Additionally, the EDS Society has a lot of information and printable stuff for taking to your doctor or other people who might need education.

Okay, link tangent over.

I spent the time from December 2021 through maybe May or June of 2022 in PT, which didn't go well because my health has deteriorated pretty badly. My joint pain was severe and out of control, and I dislocated my shoulder 3 times in PT. I also learned from a cardiologist during this time that I also have POTS syndrome, which tends to be comorbid with EDS. Basically: I stand up, all my blood goes to my feet, I get dizzy and have no stamina for walking any kind of distance. This, also, made PT very difficult because I had a really hard time doing any of the exercises without feeling like I was going to collapse. But PT is the standard treatment for EDS to strengthen the muscles around your joints so the work is distributed between them better and the pain is less over time. I'm hoping to get back to this.

So: if you're going through the diagnosis process, you might have to do PT for a while, and probably see a cardiologist.

Finally, after originally seeing my primary and getting a referral to genetics in spring of 2021, I got to see a geneticist in fall of 2023. It turns out that this is because there is only one geneticist in my state who deals with EDS, so the wait times are accordingly long. But: it was worth the wait. We tested for a whole spectrum of connective tissue disorders, to rule everything out, and I got so much information.

If you are waiting on a genetics appointment, it's worthwhile to use that time to try and gather as much family history as you can. Anything unusual neurologically, heart-wise, etc., among your siblings, parents, grandparents, if you can get that information. Even if you can't, they will still be able to help you. But it's very useful to have. It's also helpful to have a timeline for yourself: when did you start noticing your symptoms? Did you have any weird injuries? Were you weirdly flexible as a kid? Stuff like that.

Understandably, some people have different feelings on genetic testing, and it's all valid. For me, I just wanted an answer, because basically every doctor throughout my childhood and younger adulthood dismissed me when I brought up stuff that ended up being signs of EDS. I felt really vindicated by getting an answer, even if that answer means I have a lifelong illness. It just means I now have a toolkit to help it and work around it.

So, between meeting with genetics for the first time, and getting the test several weeks later, waiting for results, and finally making an appointment for a final diagnosis, took about 6 months. A lot of this was due to scheduling (again) and insurance causing a fuss because they do not like to pay for genetic testing.

Anyway, as I mentioned earlier, hEDS can't be tested for genetically (yet) but is also the most common type. So how do they diagnose it? You need a qualified geneticist to rule out other illnesses, and then they visually do some tests and ask a lot of questions. (The technical term is "clinical diagnosis.") You'll have to do something called a Beighton scale, which is a series of tests of flexibility on your thumbs, fingers, elbows, knees, and other joints. It's not difficult, and you can stop if your joints are in pain. (I also found that basically every doctor and physical therapist I saw through the year wanted me to do parts of this test for them, and they all said "yep, you're probably getting that diagnosis." So I guess I should have been more prepared to perform on command, or something.) Between my Beighton score, family history, and personal history, my geneticist determined that I fit the diagnosis to a T.

Really, this last genetics appointment was like sitting and listening to someone narrate the details of my entire life to me. So many little things I hadn't even mentioned in previous appointments came up, and I have so much more understanding of why my body is how it is. They confirmed that one of the best pain relief methods for EDS patients is cannabis, which I've been using for a month and change, and has truly made a difference in how functional I can be. I now have more ideas on what I can do to help reduce the pain I'm feeling through physical activity and other means, and diet, and so on. It will never be 100% better, and I can accept that. I can work with this.

So, essentially, it's an endurance game. I was frustrated, in pain, tired, and overwhelmed for the better part of a year. I cried a lot. I felt like no one would help me, but what I really needed was answers and information. I'm lucky to have family support cheering me on through the process, because more than once I just wanted to give up and never see another doctor again. But, knowing what I do now, I have the information I need to improve my life, and that is a lot.

It can be hard and scary and really, really frustrating, but don't give up. Your life can get better. You just have to be persistent, and if you've made it this far with pain and joints like these, you already have the persistence to do it. 💖

If this has helped you at all, and you want to help me out in return, I have a ko-fi page for tips and shop, but please take care of yourself first!

#blog #healthposting #medical #cw medical #tw medical #heds #hypermobility #ehlers danlos syndrome #eds diagnosis #genetic testing

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thepastisalreadywritten · 3 months

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NOTE:

“While our review is ongoing, we have decided to temporarily pause applications on both the record titles for oldest dog living and ever until all of our findings are in place and have been communicated,” the spokespersonn said.

She added that it would be misleading to suggest that Bobi had been stripped of his title as “no action has been taken in relation to any record holders yet.”

#Bobi #Portuguese mastiff #Guinness World Records #Royal College of Veterinary Surgeons #genetic testing #Leonel Costa #Portugal #oldest dog record #national pet database

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thebeetleb0y · 2 years

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hey, hey psssttt, pssst transmascs who want top surgery; lean in close and listen I’m gonna share a secret with you, if there’s a history of breast cancer in your family get genetic testing done; it’s usually fully covered by insurance and if you have one of the genes they will often recommend a mastectomy when you turn 30 or sooner sometimes that will usually be covered by insurance. If you don’t have a gene obviously you can’t get it done but if you do, while that’s very scary and serious at least you will know you can get top surgery without jumping through all the hoops that are already in place and the new ones that are no doubt being put in place.

Now obviously how everything works is going to differ state to state, doctor to doctor, insurance to insurance but I think it’s a good thing to look into as it is something I just had done. I was negative for the genes so I will not be able to get top surgery done that way but I know what my doctor told me about being positive for the genes and what they do as preventative measures. Plus, if you do have a history of breast cancer in your family you should know if you have those genes anyway so you know your own risk level. It’s just something I think more transmasc people should be aware of because it’s not very advertised out there. Hope this helps!

#pride month #cw cancer #genetic testing #top surgery #lgbt #lgbtq #lgbt pride #lgbtq community #lgbtq rights #pride #trans masc #trans man #trans rights

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rapeculturerealities · 2 years

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WAFCON 2022: Zambian Barbra Banda ruled out over 'gender eligibility' issues - BBC Sport

Zambia captain Barbra Banda has been ruled out of the Women's Africa Cup of Nations (WAFCON) after failing gender eligibility tests.

Despite being allowed to play in last year's Olympic Games, the 22-year-old forward has failed to meet the criteria required by global governing body Fifa, whose gender rules the Confederation of African Football (Caf) defers to regarding WAFCON.

"All the players had to undergo gender verification, a Caf requirement, and unfortunately she did not meet the criteria set by Caf," Andrew Kamanga, the president of Zambia's FA (Faz), told BBC Sport Africa.

"It's unfortunate that we find ourselves going into the tournament without our best players."

#Sports #Genetic testing #Gender binary #Banda

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thenarrativefoil · 6 months

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I 👏 WAS 👏 RIGHT 👏 😤

got some genetic results back and they CONFIRMED so many suspected problems INCLUDING the BH4 deficiency I proposed to my doctor at the beginning of this year. I WAS RIGHT!!! ON ALL ACCOUNTS!!!!!

interestingly im not taking the right kind of b12 (yet again) so here's to attempt #3!

luckily i was only homozygous for one mutation and everything else is heterozygous so I've got some function!!

Need to figure out how to get N-Acetyl-Cystein in the mix without blocking/using up all the DAO enzyme I have bc it hurts my joints 😩

#chronic health #text #mthfr #genetic testing

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wealmostaneckbeard · 1 year

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Seeds of Salvation and Heresy

3 Intersections of technology and culture within the Human Imperium:

Newspapers

Occasionally the Adeptus Mechanicus will give large, easy-to-use, industrial paper printers to Ecclesiarchy cults and Administratum bureaus. The cults use the printers to make pamphlets promoting their faith. The bureaus use the machines to generate large quantities of printed records that get sealed up in a vault where they are rarely consulted. When the cults and bureaus collapse due to internal corruption or incompetent leadership, the mechanicus isn’t eager to reclaim the printers. The tech-priests rely on the noosphere, hardline data-cables, and vox transmissions to share information, so print media is beneath them. Thus the printers are sold off on the open market and purchased by aspiring publishers. This is how most newspapers within the Imperium start.

Reporters will cover the news in the local area, with an emphasis on whatever is important to locals and reinforces the legitimacy of Imperial authority. By catering to those two interests, the paper will avoid censure and acquire a large subscription base. Newspapers supported by aristocracy have the false freedom to question those in positions of power without severe repercussion, as long as the target isn’t their own patron. When reporters are attached to Imperial Guard regiments in a battlefield, they will be closely supervised by members of the Commissariat.

Desperate journalists with connections to warp dabblers might seek aid from Slaanesh or Tzeentch. The Dark Prince can give one the charisma and reputation to interview any subject they desire. And the Changer of Ways can give an investigator the inside scoop on anything or anyone in the past present or future. By invoking the warp, these investigators make themselves a target for the Ordo Malleus and other Ruinous Powers.

Blood Ballots

On planets where imperial society is too young to have an established hereditary ruling class, democracy is implemented. These elections, run by the Adeptus Arbites and Administratum, are loaded with faux candidates and propositions to bait insurrectionists into exposing themselves. A citizen of the imperium has nothing to fear as long as they vote correctly with their signed ballot. When the society gets old enough it will usually abandon the voting process and governance will flow along lines of succession. But some societies don’t do that and instead scale the process up with help from the Mechanicus. This aid comes in the form of cogitators and other mass survey-taking devices. When the Biologis branch of the Mechanicus get involved, that is when blood-ballots start being used.

Obviously, the blood ballot requires the voter to prick their finger and mark their votes with their own blood. Afterwards the voter gets an “I voted!” bandage wrap. The ballot is then sent off to a tallying station to be counted. And after that, Tech-priests take the blood stained pieces of paper and run them through genetic screening devices. This is how the Mechanicus, and the other authorities they communicate with, are able to detect disturbing genetic trends in the general populace. Mutant uprisings, psyker flare-ups, and xenos corruption can all be anticipated and pre-emptively crushed before they threaten society. Thus blood ballots are high priority targets for those same subversives who wish to remain hidden. Chaos blood sorcerers will also seek these ballots to use in their dark rituals. Given all this it’s no wonder that the Mechanicus will deploy heavily armed forces to defend blood ballot collection centers.

Isoburbs

A hab-block is a cubic housing unit containing a kitchen (ration storage), bathroom (low flow toilet and shower), bedroom (bunkbeds), and living room (byo/dyi furniture). They are produced by an STC and slot together to form unending apartment rows in hive cities.

In an Isoburb, the hab-block serves as the core for a single family-of-five residence. Each block is placed equidistant from each other along paved roads and cul-de-sacs. Homeowners build onto the block and expand their homes using available construction materials. Typical additions are a garage and a second floor accessible by a staircase. More eccentric individuals could add other features such as perimeter fencing, a third floor, pool, garden, and more. These expansions are regulated by ad-hoc governing bodies known as Homeowners Associations.

Isoburbs are typically found on frontier and garden worlds. This housing arrangement is used for workers at information/tactically sensitive facilities: Astropathic relays, archeological archives, anti-orbital weapons platforms, and outer void detection towers. Thanks to the isoburbs layout, workers cannot easily spread diseases, dangerous ideas, or unauthorized information beyond their shift-mates and immediate family. Some spaces are set aside for public (schools, parks) and commercial use (shopping, restaraunts), access to them can be restricted for the same reasons listed previously. This isolation focused design has been documented to have a detrimental effect on residents psyches but the trade off is considered acceptable.

The roads connecting the housing developments to a facility are designed to be labyrinthine to limit civilian riots and impede an invading ground-based army. Soldiers have to deal with long wide-open roads while on foot or in light vehicles. They must also prepare for close quarters combat while clearing out every individual residence along those roads. These problems almost disappear if an army is using heavy, super-heavy, or flying vehicles. The former can simply drive over structures while the latter can soar above them.

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a-schizoaffective-artist · 1 year

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Has anyone had pharmaeogenomie testing for antipsychotics?

My doc wants me to get one done.

I guess the real issue is money, like I do have the money but it’s like 200 bucks. Aari is telling me I should do it regardless of the money so I know I will be on something I know can work and won’t fuck me too badly. (Aari is my partner)

#antipsychotics #genetic testing #personal #schizoaffective disorder #schizoaffective #schizophrenia #psychosis

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teachanarchy · 11 months

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Watch "The Controversial Future of Genetic Testing" on YouTube

youtube

#genetic testing #health #disability #ableism #science #genetics #healthcare #capitalism #economics #technology #reproduction #eugenics #Youtube

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nindurmeleth · 1 year

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3 more weeks until I find out if I have small fiber neuropathy, 2 until my tilt table, and just after that is a 3 week long heart monitor and genetic testing for my ehlers danlos syndrome. With my personal and family history of heart problems is giving major classical/vascular vibes. It's all being done at Loyola which isn't my usual place so that's kinda fun. It's a bit of a hike though so I hope it's not the new normal.

#pots #postural orthostatic tachycardia syndrome #orthostatic hypotension #ehlers danlos syndrome #genetic testing #small fiber neuropathy #hypermobile ehlers danlos #ceds #heds #veds

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longhaulerbear · 1 year

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Recurring DNA variants in EDS that merit evaluation in COVID19 resistance include those impacting connective tissue elements--51 in COL5 (joint), 29 in COL1/2/9/11 (bone), 13 in COL3 (vessel), and 18 in FBN1 (vessel-heart)--or neural function--93 in mitochondrial DNA, 28 in COL6/12, 16 in SCN9A/10A/11A, 14 in POLG, and 11 in genes associated with porphyria.

Although initial analyses of connective tissue disorders focused on tethering proteins like collagens [1–7], its necessary role in protist to metazoan transitions [14] requires that connecting tissue be medium [15–21] and message [12, 22–28]. The result in complex organisms that combine internal homeostasis with external movement is a diversity of constraining and connecting structures [skin, joint, skeleton—15-21] permeated by wired [nerve 12-13, 22-25], moving [muscle 26-28] and circulating [heart-vessel 7] parts. All of these tissues including many blood components have a common developmental origin [mesoderm, mesenchyme--29] that reflects an evolutionary drive for cell connection.

The inevitable consequence of this integrated anatomy is a reciprocal relationship between the systems that constrain/contain body or blood [20,21] and the nervous system that coordinates their functions [22,23]. Disposition to tissue laxity will not only cause wear-and-tear osteoarthritis and skeletal bends from gravity [deformations like scoliosis, 4-8] but also will provoke adrenergic response to restore cerebral circulation deprived by vessel distensibility and lower body blood pooling [9–12]. Repeated adrenergic stimulation, evident even in those with minimal or benign joint hypermobility [9], produces the brain fog, stress response, and chronic fatigue of postural orthostatic tachycardia syndrome [30–32], the reactive allergic [32–33], immune [23,34], and inflammatory [35] symptoms of mast cell activation [32–33], and, through cholinergic suppression, the irregularity, reflux, and swallowing difficulties of irritable bowel syndrome [36].

Moving beyond the joint hypermobility and skin elasticity emphasized by dermatologists Ehlers and Danlos [11] are S1 Table assessments of neuromuscular symptoms like migraines or poor balance that affect a respective 60% or 61% of EDS females, 96% of all patients having at least one of 12 neuromuscular findings by history. Equally frequent are the brain fog (83%) or chronic fatigue (87%) of postural orthostatic tachycardia syndrome (POTS) in EDS females, the bowel irregularity (82%) or bloating-reflux (79%) of irritable bowel syndrome (IBS), and the rashes (42%) or asthma-dyspnea (49%) of mast cell activation syndrome (MACS) in S1 Table. All but 3 of the 1261 patients had 1 of these dysautonomia findings and the average among females and males of all ages was 12 of the 20 findings.

The neuromuscular and dysautonomia findings are inextricably linked to those of joint-skin-vessel laxity as shown in the Appendix, 483 females over 10.5 years who presented with joint pain having similar numbers of joint 5.8 to 5.1 of 10, skin (2.5 each of 10), or dysautonomia findings (12.2 to 13.1 of 20) as the 358 who presented with postural orthostatic tachycardia syndrome (POTS). Underappreciation of these neuromuscular and autonomic problems and their exclusion from consensus findings [66] is a major reason for the diagnostic delays for males (7 years, 21-14) and females (13 years, 30-17) in Table 1, columns 2-3 rows 4-5)

Flexible glia, dura and vertebrae allow descent of the lower brain to produce Chiari deformation in 14% of women [70] plus back pain from spinal disc herniation or degeneration in 42% [13].

Equally flexible pelvic ligaments (exaggerated in women for parturition) lead to pelvic congestion [71–73] and urogenital problems (menorrhagia—67%, endometriosis—33%) that when counted give women an average 1.5-point excess in total history scores (S2 Table). Inflicting circulatory imbalance is the increased distensibility of vessels that leads to lower body blood pooling (57% of EDS women have foot discoloration upon standing), the reactive adrenergic stimulation producing stress-related psychiatric symptoms [74] that combine with those from pain [75–76] and inflammation [77–78]. Some of these changes including rare joint contractures [79] were undoubtedly related to aging as 74 EDS females and 6 males were over 50 years old.

Comprehensive assessment of dysautonomia findings in EDS [9-10, 30-33] is crucial for diagnosis and for correlating its cardiovascular, immune, and inflammatory changes with the gene changes in S2 and S3 Tables. Holistic ascertainment renders EDS types as subtle variations on a theme or spectrum…

Grouping of genes by impact on peripheral nerve (Np) does seem appropriate since the consistent phenotype of Charcot-Marie-Tooth disease with its classic steppage and foot-drop gait is associated with 7 genes and their 22 variants including LMNA and AARS1 in Fig. 3.

Symptoms common to EDS and long COVID are shown at the top of Fig 5 using the analogy to Tolkien’s Ents: A tissue laxity-dysautonomia entome is imagined with a converging network of contributing genes at the bottom (roots) and a diverging network of symptoms at the top (branching canopy), the two connected through major pathophysiologic mechanisms like articulo-autonomic dysplasia (flowing channels of phloem or sap in the trunk). Peripheral genes with less impact on the central mechanism will have less disruptive variations in affected patients while those like COL3A1(M120180) will act as nodes in these gene networks and cause more numerous and severe symptoms.

The large percentage ranges for symptoms in both patient groups reflects the heterogeneity of patient ascertainment (clinic, online, retrospective in EDS, different hospitalized-outpatient cohorts, post-infection times for COVID19), and the subjective nature of reported findings. All symptoms, ordered by percentage in COVID19 patients, are more frequent in EDS although ranges are a bit more compatible. Symptoms of autonomic imbalance (brain fog, chronic fatigue, asthma-dyspnea, sleep difficulties, and tachycardia) are common in both EDS and long COVID19 (Fig 5), compatible with a prior hypothesis [42]. Asthma is a consequence of mast-cell activation [32–33], the other four of postural orthostatic tachycardia syndrome [30–31, 39].

Less common in long COVID19 than EDS are IBS symptoms and those orthostatic hypotension like syncope and dizziness. Neurologic symptoms like difficulty walking-poor balance, muscle weakness, myalgia, and frequent headaches occur in both as does joint pain that is common in EDS, post-infectious, or autoimmune illnesses (Fig 5).

This clinical genetic study of EDS relates its quantified finding pattern to underlying articulo-autonomic dysplasia mechanisms and the multiple gene variants found by NextGen DNA sequencing. Major results are the connected tissue laxity-neural symptoms of EDS, their relation to disparate nuclear and mitochondrial genes, and the similarities of these relationships to those of acute or long COVID19. The study illustrates the potential strengths and limitations of genomic analysis as summarized below.

Many genes like FLNC in Table 4 are associated with cardiomyopathy and muscle weakness, reflecting overlap of proteins in cardiac, skeletal, and probably intestinal smooth muscle (possibly contributing to the 92% of EDs patients with bowel dysmotility in S1 Table). Further study of musculoskeletal and mitochondrial dysfunction [140–141] in EDS and acute/long COVID19 could justify trials of promising dietary [31], physical therapy [18, 142] and exercise [75, 121, 143] protocols in both disorders. Important objectives regarding long COVID19 are to associate symptom frequencies and outcome measures with defined post-infection time periods, then determine whether the genes influencing COVID19 infectious (S5 Table) also influence the duration and disability of its post-infectious phases.

#long covid #EDS #Ehlers Danlos Syndrome #genome #genetic testing #science journal #dysautonomia

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heavenlyhopeful0 · 1 year

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Time 4:59am

“Potentially positive” (HSP)

That’s the best that my spit test can tell me. I swear.

So much for getting a good nights sleep.

At this point I have no idea how to feel.

Pissed off? Yeah.

Angry? No doubt.

Heartbroken? Absolutely.

I truly was praying for something better than “potentially positive.”

I don’t know why God gave me this cross to bear nor do I know what my future looks like anymore.

The moment all the lifelong dreams of a little girl come crumbling to her feet.

1. Finding a man that will love me.

2. Having kids. Probably out of the question. Because there’s no way in hell I’d risk giving this to my child.

I know I can adopt but I’d need to find number one first, which is proving to be impossible, for more reasons than one.

I literally feel numb, void of the ability to grasp the pinnacle or rock bottom that my life has reached.

I’d usually end this with a witty comment but right now the best I can do is leave you like I leave you every time.

With a Bible verse.

#genetic testing #hsp

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bugbyte · 5 months

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1062 Days

I had a pretty terrible doctor’s appointment yesterday and have been kind of cycling through a million feelings about it like some kind of unhinged unicycle. (No, I cannot ride a unicycle.) Anyway, if you missed yesterday’s panic posting, the pain people kind of went “oh well” and shoved me off to the MMJ people, which is fine, except costly and not covered by insurance and I am broke. I did receive a Ko-Fi donation that should theoretically cover a chunk of whatever the appointment costs and the amount of relief I am feeling right now is enormous, so thank you, anon donor. One way or another I’m going to figure this out, which is far more hope than I had when I started today. I woke up, wide awake, at 6 am this morning, having a panic attack because I felt like I’d just been condemned to a life of never being able to do or experience anything ever again, but now I feel like there’s a chance.

We’ve been driving back and forth to a city about an hour away to deal with all of this stuff because there seem to be a lot more specialists there (it’s through a university hospital, which has been a really good experience primarily, except for the pain people? wtf) and an hour isn’t that bad in the scheme of things. Anyway, it gives me way too much time to think, and after yesterday I started counting days since all of this started going downhill for me (thank you Siri for doing the math) and yesterday it was 1061 days. Today it’s 1062. I’m just flabbergasted that it’s been that many days and I’m just supposed to go home and make dinner and pretend everything is fine. This is how my brain works: I want to put data to things, I want to turn that into a visualization because I feel like no one ever understands the words coming out of my mouth. I’m thinking about making some kind of animated visualization of how much time that is, how much loss it is over time, because that’s how I process I guess. Or maybe some kind of video essay about it. I don’t think people who aren’t directly experiencing (or living with/caring for/close friends with) chronic pain really understand what a grieving process it is. I feel like I have no sense of time anymore, because all the days are pain.

Anyway.

Doing a read more here for some slightly unpleasant-er medical stuff, so please check the tags if you think it may bother you to read.

This week is a gauntlet of multiple things because it’s just how it fell. If you are lucky enough (and I hope you are) that you aren’t dealing with medical stuff on a regular basis, you might not know how overtaxed everyone is now and how ridiculously hard it is to get an appointment anywhere, for anything. A while ago we made a rule around here to not schedule back to back appointment days because it’s really physically demanding for me, but when you have no choice but to schedule things months out…sometimes you don’t get a choice, and it’s awful. I’m paying for it today after two days of this, in stress and physical testing and sitting in a car for long stretches. Anyway, that sucks.

But at least today was a much more positive experience than yesterday, in a number of ways. Somehow in this entire year of tests and visits and drugs and whatever, this is somehow the very first time I’m actually seeing a neurologist, which was pretty interesting and revealing. In this whole time no one has noticed how flimsy my ankles are, and somehow I never think to talk about it because I just basically walk on eggshells all the time trying not to injure myself by…walking. But today it got noticed, and maybe that’s something I can press someone to do something about. Before my health turned into a flaming car wreck I used to run marathons and I do not know how I did this. I feel like I got away with something I shouldn’t have.

So one of the most interesting bits of today, which relates to some past stuff I’ve written about and haven’t talked about more because it’s all kinda in flux still, is even more genetic testing. The first one was a whole panel looking for connective tissue disorders (spoiler alert: they found something weird, it’s just not what anyone expected, and I get to talk to somebody and find out more next year lol) and now we’re checking out a different but more specific gene for a type of muscular dystrophy, which might also explain some of the issues I have. Essentially: I’m a huge mess and my body is crumbling and it would probably be prudent to start weeding out which problems are caused by which weirdness. Exciting! I got to talk it out with a genetic counselor (again) and a student, which was cool, because I like being able to contribute some of my weird physiology to their knowledge so hopefully they can help somebody else like me in the future. I got to opt-in to putting my genes up for (anonymized) research, which I was also pretty excited about because I’ve got the weird in me and hopefully it can help somebody. I like chatting with folks like this, I am enthusiastic about research and improving treatments and it’s nice to feel like I’m contributing something from this whole mess. Genetics as a whole is really interesting to me, I’ve been reading a ton on it since my first outing getting tested and there’s so much possibility for improving peoples’ lives if we just knew a little bit more. In another life, where I’m not squeamish about blood and am good at math, I like to think I’d have gotten into genetics. I have feelings about it.

The cool part of this is they were able to do the testing right on the spot this time. I still have to wait a while on results, but I didn’t have to go through any approvals or waiting for test kits or anything. No, instead I just got stabbed several times for blood. I used to be petrified of needles and I still feel pretty bleh about it but I guess that’s the equivalent of exposure therapy or something. The poor nurse today was not a good needler but she was really nice and tried really hard so I can’t be upset about it. I did get stuck in the dang hand, though, which is my absolute least favorite place to get stabbed. Ugh. Weirdly, my opposite hand is also aching like ME TOO and I’m like NO, NOT “YOU TOO” but here we are. At the beginning of the year I started keeping a needle count for myself because somehow it helps mentally to know how many times I’ve done this, and so as of today it’s 22 for the year but it’s probably going to be more before 2024. Getting over it has made me start thinking about getting a tattoo someday, though. I know it’s a different process and sensation probably, but it was always the stabby bit that put me off in the past. I want to get my cat’s paw prints done on my leg, in the spot where he used to put his feet when he sat with me while I was having a bad pain day. One day I’ll get there.

Anyway, I feel like I learned a lot today and got to sign off on contributing a little of myself to science, which is a good feeling. And it was really nice to deal with people who were actually compassionate as well as excited about their work. Makes up a little bit for the bad day I had yesterday.

Gauntlet week continues. Hope you’re all well out there. Working on being a little more well in here, too.

#blog #healthposting #genetic testing #tw needles #needles #tw blood #blood #hypermobility #medical #ehlers danlos syndrome #muscular dystrophy

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graywcw · 2 years

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DreamBleeder

How can one boy be a catalyst for so many things? Reunions, closure, ruins, the end of empires, and destructions of cults? No one has the answer, not even Raffiel Dreambleeder himself.

All his life, Raffiel felt…. Different. As if there had been something lurking in his shadow, protecting him, and out casting him. But now, he has friends and goals that a strange man, Raiden Anders had given him.

Raffiel didn’t know what Raiden’s last words meant, but they were important. He could feel it and when the two would reunite, Raffiel would finally get his answers. Now, it was just a matter of learning and piecing the puzzles together as Raffiel tries his best to hunt down Raiden.

The man who gave Raffiel meaning, and the man who disappeared off the face of the earth without the slightest of traces.

Just, like a phantom.

Chapter 1: The Death of a Traitorous Man, and The Start of The Aftermath

It was sunny with clear skies and the crowd was massive. Everyone from everywhere had come to see the execution of the traitorous man, who was perched on his execution platform with a wide and glowing smile on his face. he even had the gall to laugh and crack jokes with his soon be executioners.

It made the people disgusted. The man before them had been an explorer who brought the best out in others, even if he did go into unauthorized places, picked fights with the government over small and petty things; and even took questionable individuals in under his guidance. But never, in a million years did anyone ever think that this man, their beloved Orion who brought sacred artifacts back to their homelands, protected the weak, made peace with the rich; and discovered ways to better humanity and their ways of living; would go against the highest authority in the world.

The White Coats.

And his fate had been sealed from there. The White Coats ordered for his capture and execution as well as his entire crew. The White Coats held tremendous power and kept the peace all over the world. They ended wars that lasted centuries and made treaties that still stood strong. Orion had come to an agreement with them a long time ago. He didn’t work for them but rather with them, as The White Coats and Orion held different views that neither would ever share with the outside world.

Which was why, when Orion’s head had come up wanted dead, it sent the world into a deep shock. How could their most beloved explorer be wanted for dead?

And now, they had caught him. And only him. His crew had scattered, cowards and now; one of his soon to be executioners began rattling off lists of crimes Orion had committed behind blind eyes and turned backs.

There had been rumors that Orion brought nothing but warm weather and beautiful skies wherever he went. But now, standing below the wooden, execution platform; everyone couldn’t help but curse the vile man. The sun was too good for someone as filthy as him. Someone from the crowd declared.

‘Think of it as your last mercy!’ someone hollered as they threw a stone with all their might.

The stone hit Orion’s chest, yet the man didn’t acknowledge the gesture. This only angered the crowd, and they began to grow restless as their blood lust. Orion still ignored them, even when they shouted curses and ordered for his death to come faster. More objects were thrown but that act was quickly put to a stop by the government officers that framed the edging of the crowd, when one of the younger officers was struck in the face and rendered unconscious.

Orion simply made quiet, lighthearted conversation with his executioners. They were granting him that much at least. Oh well, no point in going out bitter. He kept his head mostly turned to the guard on his left, but his eyes still scanned the crowd. Looking and longing but not hoping.

Orion’s body slumped in disappointment almost as very few faces in the crowd looked up at him with sadness rather than blood lust and hatred. Very few still faith in him at least. But that wasn’t what Orion was looking for. He shuffled himself back into position and faced the crowd head on once more.

‘Is this really what we’ve come too Ri?’

Those words would forever haunt him, and Orion knew it.

The convict knelt and shifted himself a bit until he found himself comfortable. Nobody paid him any mind as he did so, the guards turned, chatting to themselves as they readied themselves for the greatest achievement of their lifetime. The crowd muttered more rumors about the commended man in front of them.

Taking a deep breath, Orion squinted until he found who he was looking for. A black shadowy figure slipping gracefully through the crowd, undetected. Orion let an apologetic smile slip upon his lips one last time at two more familiar faces in the crowd before he turned to look at his executioners who were getting ready to stake him.

“Do I git ma last words?” he asked playfully, earning annoyed looks. Hey, at least he was still good for something, and that something just so happened to be annoying his enemies as per usual.

Somethings, even in the face of death; never change.

“Make it quick bastard,” the head executioner grumbled, and Orion thanked him before clearing his throat.

Once he was sure that his voice wouldn’t waver, Orion turned to the crowd and took a deep breath. Then, he belted out from the top of his lungs and for all to hear in all corners of the world.

“SLAVES TO THE WHITES COATS! ALL OF YE ARE! BREAK FREE FROM THEIR SHACKLES AND LIVE YOUR LIVES YOU PRECIOUS BASTAR-“

Orion was cut off as he was stabbed, through the neck and the heart. His vision went blurry and rapidly turned black and all he could do was laugh. He coughed up blood and his dimming eyes caught two, blurry and undistinguished figures, the ones he had smiled too; were staring up from the crowd; tears undoubtedly running from their eyes.

“LIVE YOUR LIVES! FREE FROM SHACKLES!” Orion panted out with the last of his breaths. “MY SONS AND MY DAUGHTERS! LIVES YOUR LIVES TO THE FULLEST AND NEVER LOOK BACK!”

And with that, Orion spoke his final words; heaved his final breath and laughed his final laugh before his body swayed and thumped against the wooden platform. His body limp and cooling, no light shone in his eyes and yet; he was still smiling his warm and lovely smile.

The legendary, Orion. Was dead.

…. (TEN YEARS LATER)….

Thunder crackled and lightening split the skies. A baby screamed and cried as the cloaked figure ran with all their might.

They had been found. Found by those damn Bloodhounds! The cloaked figure gritted their teeth as they heard something or rather someone advancing on them rather quickly. The base was attacked and now, the finally rebuilt family; was shattered again.

The cloaked figured gritted their teeth as the screams of warriors echoed through the air. Many of them, haunting symphonies of death that were howling through the night and carried by the cruel wind.

Screeches came from right behind the cloaked figure and the hair on the back of their neck stood on ends as hot breath ran down their spine.

“Osmosis!” the cloaked figure shouted and the water from the rain and swampy puddles flew to their fingertips and under their shoes.

The cloaked figure used the rising water to propel themselves away from the blood-soaked weapon that the killing machine thrusted down. It was a thick bladed sword that easily swung through the air and sliced through the ground as if it was warm butter.

“Great, there’s more on my tail,” the cloaked figure groaned as they landed on a tree branch, only to have to immediately leap away to avoid another sword that was trying to claim his head.

‘Five to my left, three above, six to my right; and two below me,’ the cloaked figure counted as they leapt away in the trees. ‘If I hit the ground, I’m a dead man.’

“Where’s the damn big dogs when you need them?” the cloaked figured growled, nearly snapping their back in half as they flung themselves backwards to dodge a sideways; slashing blade from above.

Glaring at the Bloodhound that smiled sadistically back at them, the cloaked figure brought a knee up and hard. Their kneecap tingled in pain, but they couldn’t be bothered to care as they heard the satisfying crunch of the Bloodhound’s jaw.

“Osmosis!” the cloaked figure shouted, and a wave of rain immediately flew towards them.

Using their hand to direct the wave, the cloak figure sent it crashing into the Bloodhound. It screeched in pure anger and fury as it was thrown through a bunch of trees and its body rolled limply across the ground. Its neck had been snapped.

Good.

“Sorry little one,” the cloaked figure said as they brought another wave up underneath them. They used this second wave to fling them away, to put some distance between them and the lost base.

“But the only way to get those bastards off our tail is to kill them. Or make them drive their selves to death,” the figure apologized, grabbing a vine, and using it to slide back down on the ground once they deemed it safe to.

The cloaked figure’s feet hit the soggy ground and they tensed, waiting to be attacked. Nothing happened for a few heartbeats and that was good enough for the figure to take a deep breath. Slowly, they scanned their surroundings before sprinting away, using the water on the ground, and falling from the sky to quiet their steps.

It wasn’t enough. Of course, it wasn’t enough, it never was enough with these guys damnit!

A terrible gasp came from the cloaked figure as blood spat out of their mouth. Their hood had fallen, letting loose their long, royal locks. The cloaked figure turned out to be a young man with rugged features and a scar running from the top of his right, upper lid and down to the middle of his cheek. His glasses were round and one of the lenses was cracked from being hit in the face by the side of a hilt.

The young man landed on his back, water seeping through his clothing and touching his skin. Ugh, he felt like he was drowning as he tried to force as much oxygen into his lungs. A black, combat boot slammed down onto his chest, making the young man wheeze and all the air he just took in; fled from his body once more.

Thank God he had hidden the baby in a nearby tree. Thank God he had at least managed to do that.

He would have been beyond pissed if he failed.

Gritting his teeth, the man with royal purple locks hissed as the Bloodhound pinning him down; grabbed his face tightly in its superhuman strength. The Bloodhound, a blonde and muscular woman with black eyes and tanned skin snarled like a wild animal, salvia spewing everywhere and onto his face. he wanted to gag in disgust as she held open his mouth, salvia and blood trickling past his jaws.

Grunting as he tried to pull his face away from the woman as she lowered a tacky, blood-spattered knife closer and closer to his mouth, more blood dripping onto his tongue. Metallic, copper slathered his taste buds as his crimson of dead comrades nearly blinded him with the refraction of the moon’s light.

The woman’s eyes glowed in sick satisfaction, and she started to laugh in pure joy. Ooh, she was going to complete her mission and then, then her handlers would finally promote her semi-perfect!

Oh, the number of jobs and handlers she would be able to participate in and with! The excitement was too much too bear!

The man behind her squirm, disgust, and terror in his eyes as he wriggled like a headless worm being slowly and painfully, pecked at by a hungry bird. The woman’s laughter grew louder until her shrieking filled the air and spooked animals. The animals fled and noise sensitive foliage shriveled up at the sudden noise.

The man’s eyes flickered as globs of spit and blood pelted everywhere and a desperate idea clicked. He hated doing it but making her body a full-blown hypotonic solution was the only way.

‘I’m so sorry…’ the young man thought, closing his eyes for a minute. ‘Please, do forgive me.’

Screaming to startle the woman, which worked much better than what it should; the man threw his fist upwards, only to uncurl it at the last second and plunge his fingers into her neck. The woman roared and tried to rip herself away from him, but the man had already transformed his fingers into water roots that buried themselves deep with the wall of her muscles and tissues.

“Osmosis, hypotonic!” the man shouted, his words jumbled from his mouth still being held open by force.

The woman screeched and her mouth became to froth and foam as her body spazzed. The man’s arm turned into a water current, pumping the liquid rapidly from her body and into his self. More and more of the man’s body became water and he allowed his side to burst open like a water balloon.

It’d do him no good if he caused himself to go hypertonic, so he forced his body to mutilate itself to keep all the extra water from killing him.

The woman’s skin started to bloat and grow red from where it was being rapidly stretched. The marks developed quickly, and the woman howled in extraordinary pain. The gleam in her eyes switched from sadistic glee into fury and agony. It was a look that the man beneath her was hoping would dissipate soon.

Just because he had such a sickening ability, didn’t mean that the man was cruel hearted. No; it was the exact opposite. The man wasn’t cowardly, but he wasn’t the first to rush into battle. In fact, he would much rather talk and sort things out peacefully before taking arms. But he knew that wasn’t how the world work. The world thrived on violence and blood spill. It was why he was in this position, fighting against a seemingly impossible enemy in the first place.

Finally, the light in the woman’s eyes died out and her body went limp. She was bloated and contorted all different ways. Her steel grip on the man’s mouth slackened enough so that he could push her gently swaying body off him.

The man rolled out of the puddle and onto his stomach. He shoved two fingers into his mouth and forced himself to purge up any of the blood and salvia that had slid down his throat while being pinned. While he did that, his body slowly pulled in just enough water to rebuild his side and then it returned to being soft and tender fleshy parts and bones.

Once he was able to fully regain himself; the man pushed himself to his feet and quickly sped over to the tree he had hidden the sniffling baby in.

“I’m sorry little guy, but its okay now. I got ya,” the man cooed softly, smiling at the baby and he couldn’t help the bittersweet tears that stung his eyes and heated his cheeks.

The man carefully picked up the child and placed him back into the cloth sling. The baby was cold and wet. Surely, he was going to get sick. The man just knew it.

But being sick was better than being dead.

The baby let out another, ear splitting screech as the wave of muddy, salty water sprayed his shivering, little body. The Bloodhounds snarled, their fangs glistening with a mixture of blood, salvia, and rain. Their eyes wide and crazy off the high of killing.

The handlers strolled out of the thick underbrush. in their elegant white coats that matched the uniform of their ‘pets’; glowed in a surreal manner in the moonlight.

“Slaughter them and retrieve the babe!” the handlers chanted, throwing their left hands out in unison to point at the cloaked figure who was in the middle of a rapidly spinning circle of water.

“You’re not laying your filthy hands on him!” the man roared. One of his arms was broken and blood streamed from his left cheek.

His vision was completely blurry now as his glasses had broken and fallen off somewhere in the forest. Dawn was about to break soon if the slight lightening of the sky indicated anything.

The handler in the long, white coat only sneered and released the thick-chained, leash; (these deranged assholes had their Bloodhounds on actual leashes!); and gave them the order to ‘retrieve’.

The man was exhausted, and his muscles burned with stress and pain. He didn’t know how much longer he could go like this. He panted heavily, the child was still crying, and the Bloodhounds had picked themselves up off the ground. They circled the man, cackling like a pack of starving, wild dogs.

“Osmosis!” the man shouted and the circle that surrounded him funneled upwards and vibrated in place.

The water ring built up tension and then, released itself with the velocity of shrapnel from an explosion. The handlers and the Bloodhounds were thrown backwards and slammed into trees. There were very angry shouts but that didn’t matter.

Finally, he had a free path!

The man took a few seconds to check on the baby who was now quiet and he held his breath. The child was fine, cold but fine and fast asleep now.

Relief washed over him, and his body swayed just a bit with exhaustion. His legs quivered and shaky knees threatened to buckle but the man refused to give in until he made it to the evacuation point.

It was a bittersweet victory, hitting the splintery deck of the small dingy. But it was a victory none the less. The man wheezed, his body aching and his head spinning. Dawn had long since broken and the sun had only climbed higher into the sky. It wasn’t noon, still morning but the royal purple, haired man could feel the incoming heat.

Today was going to be hot but at least, he would be alive to feel it. The man pushed himself back to his feet, the jostling of his body startling the infant against his chest awake. The baby cried again, as the man untied the dingy before pushing away from the small dock with his bare hands.

Panting, the man slumped against the back of the dingy for a few moments before he once again; forced himself upwards. The man took the baby inside the small cabin and settled the child down on the small bench. Carefully, the man undressed the baby and tugged the small sack off his back. Thankfully, his tattered cloak had protected the bag from major harm.

The man took care in drying the baby off and changing him into dry clothes. Then, he began to make the bench as secure as he could. Once he was satisfied with his work, and the child had fallen back to sleep; the man stumbled out of the cabin and back onto the deck. The boat barely bobbed up and down and not even five feet away from the dock.

The beginning of a migraine began to prick at the man’s temples, but he shrugged it off. Heading towards the rear of the ship, the man knelt again and placed his fingers just above the surface of the water. He closed his emerald-colored eyes and let his powers sap up the rest of his strength.

“Osmosis, hypotonic.” The man whispered, his body growing limp as he made the water swell beneath him.

Waves began to form, and they pushed the boat further and further away from the dock.

Paranoia hit the man and he looked up as he felt a pair of eyes track him. Glowing orange irises met with emeralds and held their stare for a long few heartbeats before retreating into the density of the forest.

#Fantasy #Adventure #Action #Exploration #Genetic Testing #World Building #DNA Manipulation #Government Corruption #Government Schemes

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