TheSwordandTheSpoon's Status Updates

"I got an official 22q deletion drone diagnosis on Tuesday!!! My micro array confirmed I’m missing 47 genes on my 22 chromosome! He called it!!!! I am SO excited. Now we can focus on maintaining my levels, because I’ve done the hard stuff. Years of therapy. I really thought about what I wanted to ask, and decided to sit and write out a six page document by category with my questions in each category. He seemed to think I was doing pretty well given my circumstances and that’s just not the case, and I wanted to paint the appropriate picture. I get flustered when I try to talk it out, so I figured writing it down in that way was better. Sooooo almost six pages worth of questions later. I haven’t heard back yet. We met just long enough Tuesday to formalize things. He told me he’d carve out more time next week and to write down my questions anyway. So. Yeah. I feel like i finally have my identity back. And that pieces of me really ARE missing. It could be more than the 47, according to the test. I want more tests done to see if I have any other genetic things. But this is a BIG win. I feel like I can finally breathe. And maybe, just maybe, get a little of the life I had before things went south back. My chest X-ray shows a cyst kn my liver I’m wigged out about, but I am determined to go to the beach in a few weeks to see my family. It’ll just have to wait. But it’s official. I have 22q Deletion Syndrome!"

"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. "

"So it’s been a hot minute. I saw another neuromuscular Dr in Arizona. She was AMAZING. This was two weeks ago. She’s 95% sure this was never seeonegative mg. She thinks it’s genetic. She spent over an hour with me and by the end of it she had five genetic things she thinks it could be. And if it doesn’t pop on those, she said there’s 232 other tests she can run and a full znome work up. My list is FSHD, Pompe disease, myatonic muscular dystrophy, confenital myastic syndrom. The last two mimic mg but it’s not mg. She thinks I fall into Pompe disease more than the others. She took one look at my back and my shoulders and she knew. I left in tears of relief. I’ve been begging for six years for genetic testing. She got mad when I told her Chicago wouldn’t run it. I have an appointment tomorrow for my lab draw. I could have answers by the end of the month!! I am SO excited. She said if it’s genetic, that’s why meds don’t work. It’s why the IVIG never fully worked. It explains SOO much. I just want a name at this point. I want a proper name. She said there may not be treatments for some of these. And I can’t even get angry about it anymore. I just need some kind of relief just from knowing what it is. I’m sick of fighting for a diagnosis I’ll never get.i want to feel better. I had to file for disability. It’s gotten bad. And I can’t do it by myself anymore. I’m still fighting for a lupus diagnosis too, and I had to fire my rehumo that I thought was my saving grace but she’s not. I found another thankfully. Just. I am SO tired. I want to get back to 50%. Just 50. I’m at 5 right now and pushing on e. I am a big bag of nerves waiting for these results. I am also tired of having to make really big medical decisions that are life changing. This is now the second biggest medical draw I’ve ever had. I just need something to pop. Fingers and toes crossed for me. I need answers so I can get the right medicine. "

"THEY APPROVED MY VYGART!!! 12 days till my first infusion! She’s super booked but the first time she could get me in was November 6 and 7th! "