Stickler's Syndrome or Ehlers Danlos...not sure now.

[actressmouse]

First DNA test for Stickler's Syndrome came back "negative".  After a phone consult with Dr. Francomano, it was decided that I need to move forward with the Opthalmologist visit to confirm the Stickler's...otherwise, she is thinking if there's no ocular involvement, that I may have a really rare form of Stickler's or Ehlers Danlos after all.  Either way, my Chiari is the main offender now regarding the worst of my symptoms.  Opthalmology appt. next week...I've been told I  will be there at least 3 hours.  Wow.

[actressmouse]

I'm scheduled for PFD and fusion of c1,c2,c3.  I'm really nervous about the fusion...more so than the PFD!

[selmaS]

  What surgery is that u r referring to, decompression?

[actressmouse]

Just had a phone consult to follow up with her last week.  She's a phenomenal doctor who is unbelievably validating and compassionate.  She was on the phone with me for over an hour and answered every question I had.  I'm somewhat of a "mystery" still as I have a lot of cross over between the Chiari and the connective tissue disorder.  Dr. F is hopeful that I will see many of my symptoms "go" after surgery....I'm hopeful, too....but still scared. :/

[selmaS]

Hi...so glad to get an update on u!!

  Wow it  is an amazing journey and it has many twists in the road u do not expect.Please keep us posted and I am so glad u got in to see Dr Fracamano....and I will get there this summer...I just have to peg someone down to drive me.