@teaze_r @RedactedMom 1-) hEDS can not be detected w/ a genetic test. My child has an EDS gene in which I am positive that I am the one who passed it down. However they dismissed that gene mutation as a Variation of Unknown Significance, (VUS).
However scientists appear to be way ahead of that... @teaze_r @RedactedMom 2-) ...geneticist because when I looked it up, having 1 copy of that mutated gene CAN cause problems. The mutation that I am talking about is a mutation in the COL12a1 gene. ncbi.nlm.nih.gov/pmc/articles/P…

1-) I get the feeling my doc doesn't care about how I feel because I am older now. My body held out okay, & looked young for a long time. I'm 51 now though, & I figure that I must be in perimenopause, & the change in hormones is affecting the increase in EDS symptoms, & the... 2-) ...intensity. All my doc seems to really care about is a mammogram, & a colonoscopy. I don't care about either of those, if he doesn't care about my pain. Finally though it's taken me a few years, but he finally prescribed LDN. I was so happy thinking that I was going...

🧵Did any people who signed up for the registery POSSIBLY (??) use Invitae to rule out other types of EDS? If so, Invitae doesn't test for clEDS, so there could be a % of risk of a misdiagnosis of hEDS, I was just wondering how that might affect the research @NorrisLab @MUSC ... After all EDS is a spectrum of symptoms that differ in different people, & differ w/ age, gender, & other variables. Even in my own family w/ 4 childern, & all 4 children being highly suspected of hEDS, they do not present the same. It would seem considering clEDS could ...

@TheEDSociety 1-) My hEDS child standing on my legs. I don't know if I have hEDS, because I am not that flexible. One of my children has 1 mutated COL12a1 gene. I am convinced that I passed that type... @TheEDSociety 2-) ...because when I looked up the gene, it is associated with my skin condition called Ichthyosis. It also says that the COL12a1 gene causes Myopathic EDS when there are two copies, but 1/2 of the mutation, (1 copy of the COL12a1 mutation) does still cause problems, so I...

@Ehlersdanlos 1-) A-) When Parents don't have much Hypermobility, but have Lordosis, or Scolosis, hip pain, shoulder pain (likely shoulder subluxations) & and a few other symptoms.
B-) When a child with EDS has speech problems, (a symptom)?
C-) A list of doctors who diagnose. @Ehlersdanlos 2-) A-) Can EDS or hEDS writing problems, be misdiagnosed as a Dysgraphia problem independent of EDS?
B-) Can an hEDS or EDS problem be misdiagnosed as a Dyspraxia problem independent of EDS?

(Originally posted 22 April 2021)

@AZebress @BSMSMedSchool @BendyBrain @The_MRC @MQmentalhealth @VersusArthritis @SussexUni @uniofbrighton @SussexUniPress 1-) Sadly hEDS is already largely ignored, & under treated. I think it has even gotten worse over the yrs. In my area especially, many doctors who use to see EDS patients, to diagnose them, now say they aren't doing it anymore. Many offices who had docs who diagnosed it have... @AZebress @BSMSMedSchool @BendyBrain @The_MRC @MQmentalhealth @VersusArthritis @SussexUni @uniofbrighton @SussexUniPress 2-) ...retired. I know because I called around myself! (some may have also moved, or maybe even just quit due to the current atmosphere of our country, or for other reasons). Some have just said they don't do it anymore. One office told me they had too many patients who...

@DrEReinhold Thank you for retweeting! I really want to help others, by spreading the word with the help of anyone who reads this to: the medical community, to people who have EDS, (but need more understanding of it), & to the families, friends, co-workers, & acquaintances of anyone with EDS. @DrEReinhold 2-) ...& of course my children need help, as well as myself. You can see my one child's finger bent all the way back in the photo. I don't encourage this normally, but my child wanted the picture to be my profile pic. to help with my cause, as stated in the above tweet. The...

@lunettaporchett @EstherAcosta126 @AHinkle628 @DrEReinhold @DenzAllie @CortDoesScience @BluesteinLinda @ehlersdanlosuk 1-) Oh! I'm there, in that spot, just about 2 years ago, I was able to touch both hands flat on the floor, with my knees straight. I haven't stretched in all of that time, & now, even though I am only about 2" away from it, while still keeping my knees straight, he dismissed... @lunettaporchett @EstherAcosta126 @AHinkle628 @DrEReinhold @DenzAllie @CortDoesScience @BluesteinLinda @ehlersdanlosuk 2-) ...the idea of EDS almost immediately. I believe I was 50, at that time, when I decided to get serious about wanting help. Now I've just turned 51, & I hurt EVERY DAY! He said go have your kids diagnosed, & then let me know what happens. Meanwhile, I have been taking...

EDS Topics, & Comorbidities of EDS, ...& other similar topics likely to be seen in my Twitter: #mEDS #MyopathicEDS #hEDS #MastCellActivationSyndrome #Migranes #Dysautonomia #Erythromelalgia #Dysgraphia #Dyspraxia #Dyslexia

https://twitter.com/EDS__Warrior/status/1483614323519987713?t=WC1Z--eA83CcQbEKh2a9ww&s=19

@TheEDSociety 1-) Thank you for your response. I am guessing you may already know the wait to see a geneticist for hEDS is very long. Also it doesn't seem from everyone that I have spoken to, that even when you have lots of symptoms, that a diagnosis is forthcoming. My children can bend... @TheEDSociety 2-) ...their fingers & toes completely back to the back(s) of their hands. One's shoulders pull out even when just carrying a few bags. At least two of them can put their ankles completely behind their head, & the others almost can do it.

@TheEDSociety 1-) Could my family be enrolled? We have at least 5 of us with symptoms, & have ruled out other types for 3 of us. One family member has the COL12a1 gene. This family member has contractures of the thumbs. Another has dislocating shoulders. Two have Chronic Acid Reflux,... @TheEDSociety 2-) One has Scoliosis. We all have Piezogenic Papules. At least 3 of us have perfume allergies. I had Placenta Abruption. Several of us have slight Ichthyosis, which was mentioned when I looked up the COL12a1 gene. I have had Bilateral Foot Surgery for Plantar Facitus,...