u/twystedcyster-

I was genotyped in 1997 and was told that my mutations are DF508 and G542X. So when I was looking back through some visit notes I was surprised to see B542X listed as one of my mutations. So I emailed my team to have them fix it.

Well....one of the docs called me. He remembered hunting through my charts and records 7 years ago when I started going to my current clinic because he saw B542X in there. He looked at everything he could get from my 2 previous adult CF centers and they had something similar to B542X in my records. One clinic had B5442X, the other had B524X.

He could see the date that my genotyping was done and that it was at my last children's clinic, but he couldn't get the results of the original test because it's almost 30 years old now. And it turns out that B542X actually IS a mutation but he can only find a single article about it from 1992 in Russia.

Now, the chances of me having B542X are astronomical. G542X is the second most common mutation and prevelent in Ashkanazi Jews, and I have have Ashkanazi ancestors. But without retesting me or getting the results of that original test there's just isn't any way to know 100%.

So even though we know that it it is 99.9999% likely that I have G542X we both really want to know for sure! They're going to see if they can get the test results from 1997. I'm going to see if there is a way to get my brother's results but that could be tricky because he died in 2018 so he obviously can't sign a release. If none of that works I'll try to get retested but it could be too expensive. 🥴

I'm a bit late with my update. Thanks to a shortage on the type of Botox i.get for migraines I've been having a rough time. 🥴

Ozempic is still going well. I'm down to 158 pounds from 175 (I'm 5'2"l. My BMI has gone from 32 to 28. I've started taking in the waists of pants and shorts. Some of my larger tops are looking like huge sacks and have gone to the alteration pile or reserved for swim suit covers.

Side effects aren't too bad. I've worked my way up to .75 mg a week. I'm increasing slower than a lot of people do so I don't get super nauseous and constipated. I tend to be pretty sensitive to medications and require low doses. I still take miralax for the 2 days after my dose.

My wedding is Alice in Wonderland themed. I obviously want my site to match. The few sites that have AIW templates aren't great. Where can I build my site with my own backgrounds and stuff? Oh, and I don't want it to cost a fortune.

So it's been a month now! I've lost 10 pounds. I notice it mostly in my belly. My pants are looser.

Side effects I've had are: nausea, constipation and fatigue. They've tapered off the longer I've been on theed. I'm rarely nauseous now and not taking a nap every day. I was taking a full dose of miralax every day for the first couple of weeks but I'm down to half a dose for the 2 days after my shot. If you struggle with constipation you need to be ready if you start these meds! Even with the miralax I only went #2 three times in the first two weeks.

For a while I didn't get hungry at all and had to force myself to eat even just to take my meds. You want to stay on top your vitamins with this stuff. I started taking biotin too because a lot people lose a bunch of hair whe they start a GLP1. I haven't noticed that so far.

When it was time to.keder.my refill I got approved to double the dose. I'm not gonna do that! I think a slower increase will be the way to go.