#genetic testing for medication

[4uhealth]

Comprehensive Guide to Finding STD and Genetic Testing Centers

In today's world, access to comprehensive health services, including STD and genetic testing, is crucial for maintaining personal health and well-being. Whether you're seeking STD testing, genetic testing for medication compatibility, or both, knowing where to find reliable testing centers near you is essential. This guide will walk you through locating these services and understanding what to expect.

[torchickentacos]

[wrenhavenriver]

i got my pathology results back at my one week post-surgery appointment with my oncologist yesterday and all the margins looked good with no evidence of lymphatic spread, which means there's no need for radiation or chemo atm - instead i'll be having imaging done every three months to watch for any recurrence and we'll go from there 🙃

[jigsawtits]

almost cried at my new doctors visit because it put in perspective just HOW negligent every doctor has been with me before

[i-love-love]

I would love to get just. The most comprehensive medical work up of all time. Run every test it’s possible to run on every conceivable part/system/function of the human body. Full psych battery. I want to know e v e r y t h i n g going on in here. I wanna know which of these things are related. Wanna find out what secrets my meatsack is hiding. I just think it would be so cool to have a 100% complete picture of how my own body works yknow

[aprincessofthevoid]

Lil ranty here I apologize, but my Dr's office is useless

How tf does a doctors office LOSE results from a Holter monitor test??? Like you mfs think I just F O R G O T being hooked up to wires n tape n shit for 3 gd days??? Hello??? I fr need a new doctor... this office also lost multuple referrals to diff specialists

Which BTW when I got into see the ppl eventually conformed I have a GIGANTIC mass on my uterus that's trying to glue itself to my spine AND the other one was an audiologist who confirmed I had minor hearing loss... not a call back about either. No fucks given...

Best part?? I asked to be switched to a diff doctor cus there's one seeing 3 outta 4 of my immediate fam that lives here (One just doesn't live as close to this clinic as the rest of us) and they claim they don't swap patients between Dr's... yet I've seen 3 other doctors at appointments that were SUPPOSE to be "my" Dr and only saw my ACTUAL doctor when I had a breakdown and told their upper management about all the bullshit and issues and misreading of results I'd experienced (skipping the 8x8x9cm mass and reading where i had a 2cm cyst)... so they got in trouble and are revving up the damage control rn cus I probably COULD fucking sue for medical neglect at this point... OH and the referral that they supposedly made that the specialist, said specalist claims they had absolutely no record of. Not that I like, missed it, or it got denied. It NEVER HAPPENED lmfao.

Also this is all a bigger issue rn with my uterus trying to glue my organs together cus I found out I'm pregnant... and was apparently suppose to have my first appointment with the OB like 7-8 weeks... I'm 8 weeks 3 days rn and they don't have an opening for almost 2 weeks... cus one of the mfs are going on a short vacation... yall pray for me cus I'm either gonna have to go full Karen or imma fr have to resist burning the place down at this rate...

[theforesteldritch]

Oh I got really good news I guess, I’ve finally got off the wait list for the pediatric Ehlers Danlos clinic, I was worried for a while that I was going to turn 18 before I got in and so have to be put back on the end of the adult wait list but I have an appointment in a few weeks and I have to go to Toronto for it lol

[cowardlycowboys]

quetiapine has been UPPED

[bugbyte]

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!

[talldecafcappuccino]

September really came along and said “hope you had a fun summer, now pay all these bills please.”

[magpigment]

a little concerned about uh. williams opinions about this doctors morality?? he’s like ‘yeah this doctor who’s in prison for child endangerment and dangerous experimental practices on children is equivalent to doctors who fail to save someone in a surgery. this is a reasonable argument that i would be willing to break this person out of prison for. there is not a single flaw in this ideology’. like. hello?? i’m not the only one who thinks he’s a tad off the rails about this right???

[kenyscouch]

the pains of genetically inherited diseases

so basically, i found out about 2 years ago my mom has chrons. it didn’t seem super important, cause i had no idea what it really was. basically it means your stomach can be really sensitive to certain things and can cause you to have severe stomach aches, diarrhea, nausea, vomiting, etc.

Well earlier in 2022, my brother got hit with his first chrons-type reaction, and he lost a shit ton of weight (because occasionally with chrons/uc you get malabsorption where your body takes little to no nutrients from the food you eat) and he was throwing up and was really sick. that’s how he found out he had chrons.

Skipping ahead a few months, i was in italy on a trip with my family when i started to get severe stomach aches and nausea after eating meat, drinking milk, and sometimes even just plain old pasta. i was so goddamn confused. then i started to loose weight (which is weird for me because i don’t really gain or loose weight cause i’m generally fit). The stomach aches only got worse, i started throwing up after certain meals, and sometimes couldn’t eat from the fear of the pain.

that’s when everything clicked. basically, i found out i ALSO have chrons. so there are some things i can eat that won’t kill me, and others that will put me in bed for 2 days straight.

long story short, if your parents have hereditary disease, please don’t ignore the signs that you might have it as well.

also for those who might be worried about me, i’m fine, im still feeling out what i can and can’t eat (because it’s different for everyone) but generally i’m doing pretty great and am back to a normal healthy life.

[fauvester]

I guess one fringe bennie of having RLS is that my calves are very swole... wake up every other morning wondering why my legs are sore before remembering the 100 toe lifts and 200 leg lifts and stretch routine i did to trick my lower extremities into thinking that its bedtime

[themermaidpirate]

Hhhhhh

[artemisiatridentata]

been waiting to hear back for a while on genetic testing I got done to see if I have the same extremely rare genetic disorder that killed my grandpa earlier this year, and finally found out yesterday that I do indeed have it. yippee or whatever 👍

[howdoesone]

How does one start a fundraiser to find their donor dad without it sounding like a reality TV show?

Embarking on the quest to find one’s biological father is a deeply personal and often emotional journey. For individuals conceived through sperm donation, the desire to connect with their genetic heritage can be a powerful driving force. However, the process of locating a donor dad can be complex and costly, leading some to consider fundraising as a means to support their search. While the idea…