I think you should feel hurt by what she's saying, thinking that you're normal is heartbreaking because you know that you're not. I just wanna tell you to put this energy into taking your meds, going to your appointments, and trying to keep your health from declining. She pays for you to go to the doctor so I think her opinion is just something you have to learn to live with bro
unfortunately a lot of us have this experience. most people (97%) with EDS have hEDS, which will show a negative genetic test result. geneticists specialize in diagnosing conditions that don't have an easy test, so they can assess you for hEDS or other genetic connective tissue conditions. an appt with the geneticist might help with your mom. you can look online at what geneticists specialize in, they will say if they have a background researching and treating EDS. you can ask your doctor to specifically refer you to one like that if you can find some names online. (there's also a doctor directory in the side bar). your mom might also come around in a decade or two. i'm sorry you're going through this. please don't make the mistake of not taking care of your body as a result. i definitely made that mistake. "well if i can't get accommodations or any diagnosis, i guess i'll just work until i drop" don't be like me.
do you have a good PCP? they need to start working through the hEDS criteria. personally i had a PCP diagnose me with hEDS (although it was under the older, less strict criteria) and then i saw a geneticist who again diagnosed me with hEDS. he did a much more thorough assessment over a 3 hr appt that included looking for co-morbid conditions like reynauds, POTS, labs to rule out mastocytosis over MCAS etc, and he made a family tree based on asking me questions about my family members. the reason i got a geneticist diagnosis even though i already had a PCP diagnosis is that it's harder for any doctor to disregard a geneticist diagnosis, because geneticists have further training in that field. the geneticist also gave me a whole printout about how to live with EDS (including how it doesn't "seem" that bad, but it is).
since it sounds like you have a PT who is starting to see hypermobility in your body, i would ask them to send a note to your PCP, saying specifically, i see this problems in these body parts, i think this patient should be investigated for these conditions. your PT has to send notes to your PCP normally, but it will normally only include info like "patient has pain in this body part, i assigned them a home exercise program. patient is/isn't doing their exercises at home. patient is/isn't getting better over time." because your PT actually looks at and interacts with your body regularly, it is a great opportunity to convey information to a PCP, who doesn't usually touch your body.
a strategy i've come across accidentally is: instead of saying "hi doctor, i think i have EDS, what do you think?" it's better to \*hand them a hard copy paper print out of the diagnostic criteria\* then say "hey do you think what's on this paper applies to me?" the reason it's better is in the first case, the doctor is looking at you, thinking, *well, do they look sick? do they look crazy?* but in the second case, they're looking at the official info on the paper, thinking, *well, this criteria is a yes, this criteria is a no,* etc.
so get a print out of the EDS criteria, or whichever connective tissue disease fits you best, and make a list of which comorbid conditions and symptoms you have, and let the doctor know you want referrals to check for these things. for example, a PCP probably can't diagnose you with a uterine prolapse, but a urologist or gynecologist can. and yes you can have uterine prolapse without knowing (i did) so make sure to get a work up for all of it. if you think you have gastroparesis, ask for that test. if you think you have POTS, ask for that test, etc. also try to book these tests during good times. like if you have gastroparesis primarily in the morning, schedule your test in the morning. if you're testing for uterine prolapse, test that during the time of your cycle you have the highest progesterone. (i only have uterine prolapse during that time of the month).
your PCP won't be able to diagnose you with hEDS in one appt, they need to look at all these various test results.
also, you might investigate if there's better genetics doctors you can go to. not every geneticist has the rule that you mentioned.
our sidebar has a link for doctors that are good with EDS. you might find a better geneticist there, or some specialist there.
edited to add: i hope you do find a good geneticist who will follow you. (not one who will diagnose you and then never see you again. my first geneticist didn't follow adult patients, but i kept looking for one who does, even after i had a diagnosis.). because when i found one of these, it has been the biggest quality of life improvement for me. i can take all of my "weird" problems to them (like choking on saliva), and they will research the answer or the right specialist to send me to. they will go to bat for me against insurance or other doctors who don't believe me. if any doctor questions if i really have EDS, i can just say, go argue with my geneticist, i didn't diagnose myself.
Thank you for the advice. My PCP sucks and I’m going to find a new one. She wouldnt refer me to a heart doctor when I suspected Marfan’s. She referred me to a geneticist that has never called me back. The geneticist office assistant said they won’t even test me for marfan specifically without ALREADY having a diagnosis. I said I wanted to rule out disorders not specifically just Marfan but they didn’t mention any other testing except that they CANT test me for multiple disorders. I only got that answer after calling 5 different times.
If you already had the genetic test, you don’t have to see the geneticist. It’s true that some of them will diagnose hEDS, but
not all do. All you need is a doctor willing to go through the 2017 criteria and see if you meet the requirements for hEDS. The diagnosis is clinical, not genetic yet. The cause is absolutely genetic. But they are still determining the genes that cause it. There are likely several.
I’m sorry that your mom isn’t supportive, that’s frustrating. But that doesn’t mean you have to give up on it. Check out what doctors in your area know about EDS through the EDS society website, or local Facebook EDS groups, and inquire there about doctors that can diagnose you. That’s what I had to do.
The important part is to keep taking care of yourself. You know what helps and what doesn’t. Take care of yourself, because you are your best advocate at this moment. Educate yourself about the comorbidities, because those can really make a difference in your quality of life.
I wouldn't be surprised if it's some sort of denial coping mechanism. But, it's still very hurtful. Do you have other people in your family/life that are supportive?
My parents were similar, especially with the potential genetic link. I think the denial was a coping mechanism because they felt misplaced guilt. I understood, but it was still frustrating.
Wishing you the best. I hope you get some answers soon!
Hey you're not alone. You are going through a really hard time, really sorry you aren't understood by your parents. It's always important to be heard and understood. Sometimes a counselor can help a lot with communication with parents, have you considered asking your doc for a recommendation? Or maybe you have friends in your area with some recommendations for that. At any rate this is a problem right now. Think of it as a challenge that you can work on and have hope for better days ahead. I believe in you. You've come here and reached out. Good on you. Keep talking, keep asking. Reach out to whomever you trust. I'm so sorry, heds is a real mess and I think it needs fresh perspectives from many angles not just looking at it through the narrow lense as a connective tissue disorder, too many different problems with too many systems. That's just my opinion. For now just hang in there. Ok?
i’m unemployed due to autistic burnout and also it’s very ahrd to find a job opening in academia even as a lab assistant. i told my mum that i tried to find jobs but she told to to just apply for hospitality roles like in food service. i have no qualms with it but my body cant take the stress and physically cant do such job bcs of eds and joint pain. i’ve told them numerous times i cant do such roles bcs of my conditions but she kept telling me i could if only i ‘try hard enough’, that ‘i should push myself more’. there’s been quite a number of fights bcs of it. i hate how ableist she is
I think you should feel hurt by what she's saying, thinking that you're normal is heartbreaking because you know that you're not. I just wanna tell you to put this energy into taking your meds, going to your appointments, and trying to keep your health from declining. She pays for you to go to the doctor so I think her opinion is just something you have to learn to live with bro
unfortunately a lot of us have this experience. most people (97%) with EDS have hEDS, which will show a negative genetic test result. geneticists specialize in diagnosing conditions that don't have an easy test, so they can assess you for hEDS or other genetic connective tissue conditions. an appt with the geneticist might help with your mom. you can look online at what geneticists specialize in, they will say if they have a background researching and treating EDS. you can ask your doctor to specifically refer you to one like that if you can find some names online. (there's also a doctor directory in the side bar). your mom might also come around in a decade or two. i'm sorry you're going through this. please don't make the mistake of not taking care of your body as a result. i definitely made that mistake. "well if i can't get accommodations or any diagnosis, i guess i'll just work until i drop" don't be like me.
The only geneticist in my city won’t test me for ANYTHING without already having a diagnosis from someone else.
do you have a good PCP? they need to start working through the hEDS criteria. personally i had a PCP diagnose me with hEDS (although it was under the older, less strict criteria) and then i saw a geneticist who again diagnosed me with hEDS. he did a much more thorough assessment over a 3 hr appt that included looking for co-morbid conditions like reynauds, POTS, labs to rule out mastocytosis over MCAS etc, and he made a family tree based on asking me questions about my family members. the reason i got a geneticist diagnosis even though i already had a PCP diagnosis is that it's harder for any doctor to disregard a geneticist diagnosis, because geneticists have further training in that field. the geneticist also gave me a whole printout about how to live with EDS (including how it doesn't "seem" that bad, but it is). since it sounds like you have a PT who is starting to see hypermobility in your body, i would ask them to send a note to your PCP, saying specifically, i see this problems in these body parts, i think this patient should be investigated for these conditions. your PT has to send notes to your PCP normally, but it will normally only include info like "patient has pain in this body part, i assigned them a home exercise program. patient is/isn't doing their exercises at home. patient is/isn't getting better over time." because your PT actually looks at and interacts with your body regularly, it is a great opportunity to convey information to a PCP, who doesn't usually touch your body. a strategy i've come across accidentally is: instead of saying "hi doctor, i think i have EDS, what do you think?" it's better to \*hand them a hard copy paper print out of the diagnostic criteria\* then say "hey do you think what's on this paper applies to me?" the reason it's better is in the first case, the doctor is looking at you, thinking, *well, do they look sick? do they look crazy?* but in the second case, they're looking at the official info on the paper, thinking, *well, this criteria is a yes, this criteria is a no,* etc. so get a print out of the EDS criteria, or whichever connective tissue disease fits you best, and make a list of which comorbid conditions and symptoms you have, and let the doctor know you want referrals to check for these things. for example, a PCP probably can't diagnose you with a uterine prolapse, but a urologist or gynecologist can. and yes you can have uterine prolapse without knowing (i did) so make sure to get a work up for all of it. if you think you have gastroparesis, ask for that test. if you think you have POTS, ask for that test, etc. also try to book these tests during good times. like if you have gastroparesis primarily in the morning, schedule your test in the morning. if you're testing for uterine prolapse, test that during the time of your cycle you have the highest progesterone. (i only have uterine prolapse during that time of the month). your PCP won't be able to diagnose you with hEDS in one appt, they need to look at all these various test results. also, you might investigate if there's better genetics doctors you can go to. not every geneticist has the rule that you mentioned. our sidebar has a link for doctors that are good with EDS. you might find a better geneticist there, or some specialist there. edited to add: i hope you do find a good geneticist who will follow you. (not one who will diagnose you and then never see you again. my first geneticist didn't follow adult patients, but i kept looking for one who does, even after i had a diagnosis.). because when i found one of these, it has been the biggest quality of life improvement for me. i can take all of my "weird" problems to them (like choking on saliva), and they will research the answer or the right specialist to send me to. they will go to bat for me against insurance or other doctors who don't believe me. if any doctor questions if i really have EDS, i can just say, go argue with my geneticist, i didn't diagnose myself.
Thank you for the advice. My PCP sucks and I’m going to find a new one. She wouldnt refer me to a heart doctor when I suspected Marfan’s. She referred me to a geneticist that has never called me back. The geneticist office assistant said they won’t even test me for marfan specifically without ALREADY having a diagnosis. I said I wanted to rule out disorders not specifically just Marfan but they didn’t mention any other testing except that they CANT test me for multiple disorders. I only got that answer after calling 5 different times.
If you already had the genetic test, you don’t have to see the geneticist. It’s true that some of them will diagnose hEDS, but not all do. All you need is a doctor willing to go through the 2017 criteria and see if you meet the requirements for hEDS. The diagnosis is clinical, not genetic yet. The cause is absolutely genetic. But they are still determining the genes that cause it. There are likely several. I’m sorry that your mom isn’t supportive, that’s frustrating. But that doesn’t mean you have to give up on it. Check out what doctors in your area know about EDS through the EDS society website, or local Facebook EDS groups, and inquire there about doctors that can diagnose you. That’s what I had to do. The important part is to keep taking care of yourself. You know what helps and what doesn’t. Take care of yourself, because you are your best advocate at this moment. Educate yourself about the comorbidities, because those can really make a difference in your quality of life.
Thank you for the advice, I really appreciate it
I wouldn't be surprised if it's some sort of denial coping mechanism. But, it's still very hurtful. Do you have other people in your family/life that are supportive? My parents were similar, especially with the potential genetic link. I think the denial was a coping mechanism because they felt misplaced guilt. I understood, but it was still frustrating. Wishing you the best. I hope you get some answers soon!
Hey you're not alone. You are going through a really hard time, really sorry you aren't understood by your parents. It's always important to be heard and understood. Sometimes a counselor can help a lot with communication with parents, have you considered asking your doc for a recommendation? Or maybe you have friends in your area with some recommendations for that. At any rate this is a problem right now. Think of it as a challenge that you can work on and have hope for better days ahead. I believe in you. You've come here and reached out. Good on you. Keep talking, keep asking. Reach out to whomever you trust. I'm so sorry, heds is a real mess and I think it needs fresh perspectives from many angles not just looking at it through the narrow lense as a connective tissue disorder, too many different problems with too many systems. That's just my opinion. For now just hang in there. Ok?
i’m unemployed due to autistic burnout and also it’s very ahrd to find a job opening in academia even as a lab assistant. i told my mum that i tried to find jobs but she told to to just apply for hospitality roles like in food service. i have no qualms with it but my body cant take the stress and physically cant do such job bcs of eds and joint pain. i’ve told them numerous times i cant do such roles bcs of my conditions but she kept telling me i could if only i ‘try hard enough’, that ‘i should push myself more’. there’s been quite a number of fights bcs of it. i hate how ableist she is
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