My appointment with the Clinical Geneticist went awesomely well 😁
The Geneticist said I've basically diagnosed myself with Ehlers Danlos Syndrome! And yes, he definitely believes I have it too, given my family history. He actually thinks I may have Classical EDS (surprise!) because I have very stretchy skin and bleed easily. I'll be doing EDS and Marfan genetic testing as I also have some signs of Marfans.
He's super excited about my case as it's a very complex one and just what he likes. He said that he really wants to also sequence my entire genome too (20 000 odd of them!) as he suspects I have something more major going on besides EDS.
We couldn't afford to do the genetic panel testing that day (as it has to be sent to the USA) so we've scheduled it for Feb 7 then we can save up for it.
I'm seeing a gastroenterologist next week as the Geneticist basically said I need urgent attention as I'm malnourished and it seems like though I'm eating what I can, my body just isn't able to absorb what it needs. IBD is back on the cards so that means I'll need an endoscopy, biopsy, etc.
We're going to keep it within this hospital as it's a "super" specialist medical center as the doctor are all professors and top experts. I'll need at least 5 different specialists to have a look at me because of all my health problems. These doctors are willing to help and really dig out the causes of my illnesses.
The only thing that is stopping us is funds. I don't have medical insurance and it's just beyond our ability to pay for it. For the full genome testing, we need USD2500+ alone. Besides that, I may need USD5000 or more for the specialists, testing, diagnostics, etc. And I'm not sure how much the treatments will cost. I'm a complex and rare type of case that few doctors and specialists can deal with here. It's a huge mountain but I know our God is bigger than any mountain ⛰️ I'll probably do a few more posts about my thoughts and such later, it's a lot to process right now…
Con't in the comments ⬇️ - 2 hours ago