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Possible Ehlers-Danlos Syndrome with craniocervical instability
Bones, Joints & Muscles | Last Active: Aug 24, 2023 | Replies (66)Comment receiving replies
An Ehlers-Danlos diagnosis really isn't as important to me right now as getting my neck fixed due to the possible EDS. I tried to get genetic testing but due to only having hyper-elastic skin and no dislocating joints (other than thumbs) I was denied, Locally that is. Though she, (the rhuemotologist), didn't notice any hypermobility, my last MRI report stated that my c2 facets were significantly exposed in right/left rotation. It then stated in the next sentence that "this may represent hypermobility" . I'm actually trying to get craniocervical instability diagnosed because that's what would be causing my symptoms for the most part. Then hopefully I can get an odontoidectomy to reduce the retroflexion of the c2 vertebra as well as fusion for the unstable area. The report I got from Vicenç Gilete, a Neurosurgeon from Spain who deals with Chiari malformations and Ehlers-Danlos complications, is the only doctor who agrees that this is most likely what I have. I included his report in the package I sent. His measurements of my skull angles were pathological and indicative of brainstem compression. An Ehlers-Danlos diagnosis would be nice but that's at the bottom of the to-do list. Though it would be good to get vascular EDS tested for because it's dangerous. Do you think they will be upset that I added measurement tools with pictures to the package? I only do this because, like I said in the first post, I've been dismissed as a psychiatric patient for the last 8 years. How does loss of balance and dysphagia/globus sensation stem from depression...?
Replies to "An Ehlers-Danlos diagnosis really isn't as important to me right now as getting my neck fixed..."
Hello @derrickbff I have a similar story but was denied consultation by Mayo twice: self-referral and primary care referral last year.
I have also seen 25+ neuro/ortho specialist to no avail and also believe I have craniocervical instability. I have lived in a "paraspinal spasm" (termed such by the FIRST doctor) for 2-1/2 years and continue to suffer nerve and muscle anomalies throughout my body which began with constant twitching and spasms 24/7 reduced significantly over time and started following a car accident months before.
While MRIs have differed across with various results: edema, impingement C6, broad osteophyte complex, severe bilaterial foraminal narrowing, thyroid nodule, loss of vertebral height, loss/reversal of cervical lordosis, among other things, it was a digital motion xray that identified retrolisthesis, anterolisthesis, unnatural "overhang" at craniocervical junction, extraneous distance of spinous processes indicating stretched/torn ligaments of ALL, don't open and close my mouth properly among other issues.
I sought an EDS diagnoses as I have pelvic organ prolapse (rectocele), can "dislocate" my shoulder, suffered sweating abnormalies/temperature abnormalities, used to be able to bend my thumbs forward, and now developed a premature atrial contraction. The doctor stated I didn't meet the criteria since it was "changed" although I absolutely believe I have it-my niece's doctor suggested she has it.
Other symptoms: I suffer allodynia on my right forehead and sensation issues on the right side of skull as well as various nerve anomalies all over my body. Nerve conduction only revealed "few positive motor neurons" in the cervical spine. @derrickbff do you have any of these symptoms? NOBODY will refer me to experts or diagnosis and couldn't get in here. Anyone know why?
I ;wish you the best and if you get accepted by Mayo or other institution for treatment or diagnosis, please let me know! This affects every second of every day and has permanently altered my life.
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I was denied genetics testing about the same time. Since then another doctor sent a referral to the same practice I had gone too before but to a different doctor. That doctor no longer practiced in the same field. So, I ended up with the same doctor. I told him last time I was there I was denied for the genetics test. He told me that genetics labs were now offering free genetic testing to individuals who’s insurance denies it. So, try again. Things may have changed in your state too.