TheSwordandTheSpoon's Status Updates

"Well it’s official. I have been diagnosed with DiGeorge syndrome! We weren’t expecting that at ALL but it came up positive on the tbx1 gene on the full gnome sequence she ran. I spoke with the man who found it last week and he confirmed it for me. He’s giving me a full diagnosis after we see how deep it goes into my gene pool. I am more than overwhelmed because I have suspected 47 genes missing in my 22nd chromosome, and imthat strand is COMPLETELY gone. It’s normally a partial deletion, not full deletion, and it’s in the middle of the strand not at the end, which makes my situation super SUPER rare. According to one genetic Dr I spoke with I should have died in my 20’s/esrly 30’s. Which explains why things felt like they started going full south the second I turned 30. I’ve defeated some major odds. The guy that discovered it said I am on the very TOP end of the syndrome, and he doesn’t see that very often either. So. Yeah. I am a hot mess. Once he gets my other test back to confirm I am missing the entire gene sequence, I get a full diagnosis and a treatment plan. And drs that know about 22q11.2 deletion syndrome. He said I am a classic case. And he’s BIG mad about the amount of neglect I’ve suffered medically. Just. I have help now. I can breathe now. I don’t know how to ice without fighting for my life. Maybe now I can get some of it back. I’m running on 3 percent, and he said he can get me back to at least fifty. And I about cried. He thinks the not heart attack related episodes j have are PNES seizures and is going to help me get properly diagnosed and help with that to, and I’m SO relieved because that’s been ramping up and it’s really scary. Soo. Finally. Going on six years worth of fighting. Since it’s officially not myasthenia, I’m going to take myself off of here. I’m going to leave my account active in case anyone would like to stay in touch via fb and would like contact info. You guys have been my safe space and I really appreciate it. But my demons new name is DiGeorge Syndrome. And I feel like I can finally breathe. "