My much anticipated appointment is tomorrow. I spoke with another genetic counselor, Jillian, a few days ago. She has me gathering additional information to add to the medical records they already have and also prepared me for some of what will happen at the appointment.
I filled out a sheet of family information so I had all that with me. This required time on the phone with my parents to answer questions about them and my grandparents that I did not previously know.
I have collected photographs. Primarily these are of my sister so they have visuals of the prominent facial features that help identify the vascular type of EDS. I also have several of my other sister and myself, plus my children and my sister's. I am thinking about bringing one of my parents as well, just in case.
At the appointment I know I will go through a flexibility test. Jillian also mentioned skin features that will be examined, such as stretchiness and how my skin forms scars. She also mentioned that since I have never had an echocardiogram that I may need to have one scheduled; this is to check for mitral valve prolapse which I have discovered is also a common problem with EDS.
More soon . . .