After all these years!!!

I had my genetic appointment with the geneticist at UW Seattle.  they have connective tissues geneticists, not just general ones like the gentleman I saw a decade ago.

I was diagnosed with type III EDS, the hypermobility type!

He said my skin was not translucent enough to be considered for vascular EDS, so he would not perform the genetic test for it.  My skin was not stretchy enough to suspect classical type EDS.  I brought up a paper he had written about EDS.  It stated that he recommended testing for VEDS if you have 2+ minor criteria, but obviously he does not follow what he wrote.

He looked at my fingers, inside my mouth, made me bend over & touch my hands flat on the floor, hyperextend my knee & elbows.  He tried to sublux (partially dislocate) my wrists which do not sublux, but are now still hurting 2 weeks later.  Both of my shoulders are permanently subluxed, according to my physiatrist.  I love her!  He listened to my heart, went over family history & all of my half-siblings diagnoses.  Asked about my mother, whom we highly suspect to have EDS.

This really doesn't change my health plan, which is basically PT.  He said swimming & bicycling which I know for a fact is not something I can consistently do.

I also went to see the neurosurgeon.  I have a cerebellar tonsillar ectopia (herniation/descent) whatever you want to call it!  They refuse to call it Chiari malformation because it only extends 3.8mm on a supine MRI.  He did not even discuss an upright MRI  or a cine MRI & he had to look up on his computer how to even measure & what measurement was considered Chiari.  According to him, in his ignorance, it was 5mm and more.

I am still trying to find someone to take it seriously & realize just because my "migraines" are subsided doesn't mean I don't have a long list of symptoms still present!  Chiari is more common in people with EDS.  I have been researching through organizations like CSF & EDNF to learn more about it.  He said I don't have a syrinx so no conern, yet I have NEVER has a thoracic MRI so how would he even know?!?!?!?

Nobody wants to find out what is wrong or ever make a damn diagnosis!!! All they want to do is mask symptoms & throw medication at me!!!  I am having vision troubles & nobody ever bothers to send me to the only neuro-ophthalmologist here!!!  I had to drive 6 hours each way to see that neurosurgeon & it was a complete waste of time!  Seattle is the area that has an upright MRI, we don't have one around  here! Yet again I missed my chance!!!