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Finally got my referral to the EDS specialist/geneticist. I’m trying to fill out the paperwork they sent me which is 1/2 family history. I just messaged my mom with a list of people I needed help with and she called me. During the call she flat out told me she doesn’t agree with what I’m doing (genetic testing/seeing a geneticist) and was resistant to provide any info. She told me she didn’t see the point because it wouldn’t change my treatment. Yes, there’s a chance nothing changes, but there’s also the chance they uncover something. Even if I just get a diagnosis and my treatment doesn’t change it still makes my medical team informed about what’s going on.

I have spent 3 years working on a degree in genetics to do the same exact work the people I’m going to see are doing.... I feel let down and like she doesn’t support me. I’ve done my research on this both academically and personally, I know the risks/possible consequences. I know it’s a touchy field with lots of controversy; that has been drilled into my head since Day 1 of classes.

I just don’t know what to do about either situation. I’m currently stuck in a wrist and thumb brace on my dominant hand because I can’t keep them where they belong. That’s not normal! I guess I just want to know I’m not alone and want someone to understand.

#EhlersDanlosSyndrome #HypermobileTypeEDS #Support #GeneticTesting #specialist #Undiagnosed #Anxiety #Depression #ChronicPain


Have any of you gone to a "Dr. House" like specialist? #specialist #diagnostician #

I am looking to go to one, anywhere in the north-east. I've found two in Manhattan.

Thomas J Bolte, MD :: Medical Mystery Investigations


The team at focusdiagnosticmedicine.com

Does anyone know some others? Any opinions on these two?


Does Anybody Have Portal Vein Thrombosis

When I was 5 yr old my whole family got pneumonia and got chest x-rays, including me. They discovered then that I had an enlarged spleen. Then came the tests. Countless tests and countless dr visits. Eventually I ended up at #HersheyMedicalCenter where they explained I have #portalveinthrombosis with #portalhypertension . It meant that my #portalvein that connects the #spleen to the #liver was blocked somehow, and so the blood had to find a different way to the #liver and back to the #heart so it backed up into the #spleen enlarging it before finding a completely new route. My #circulatorysystem is completely different from everyone else’s and since the #portalvein is blocked, it is causing pressure on places it shouldn’t be and also causing over time #liverdamage . Hence the #portalhypertension . I don’t really have high blood pressure, except in certain parts of my body. I’ve had all sorts of #tests done over the years, have seen a #specialist in #Nyc . It’s just like someone extra inside my body, causing this. Many people have different variations of it, usually due to #Cirrhosis but I’ve never found someone exactly like me. It would be nice to. #

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