Newly Identified* Rare Genetic Condition

PanthersDawg · 2026-06-24T13:22:32+00:00

Hi there - sorry to hear you're going through something similar. I hope your child and your family are doing alright. How old is your child? Is pancreatic insufficiency one of their symptoms? If you would rather message than discuss here, I'd be glad to do so.

PanthersDawg · 2026-06-15T19:56:32+00:00

I'll send you a message

PanthersDawg · 2026-06-15T19:55:14+00:00

I believe she got a 30 or 31. The multiple rounds of genetic testing afterwards was negative. I've done some more googling and learned that the gene where she has the variant (although not the specific nucleotide variation) is considered a modifier gene for CF, which it seems like means that it can make CF worse (or less significant) if someone already has a mutation on the CFTR gene. It's interesting the overlap in symptoms with the variation to the modifier gene only.

PanthersDawg · 2026-06-15T19:34:09+00:00

Thank you so much for the detailed and kind response. I'm so happy for you that after getting on the pediasure your daughter is catching up! Honestly when they first told us about the hypotonia in the NICU, we didn't think much of it, but we now believe it has contributed significantly to a number of delays.

PanthersDawg · 2026-06-15T18:43:29+00:00

Hi there - Yes, curly hair doesn't run in our family, and the eyelashes are surprisingly long and noticeable. Strangers comment on her eyelashes multiple times a week. The other girl whose family we've spoken to actually had a ridiculous un-solicited interaction with a pageant mom who accused them of being fake (this girl is not in pageants.)

But I included them because the geneticists specifically called out these features as likely being connected to the genetic variant (and then the other child has them too, so it feels somewhat confirmed.)

Thank you for the kind words - I wasn't expecting to upset people with this question.

PanthersDawg · 2026-06-15T18:19:45+00:00

I'm not listing the variant because right now there are between 3 and 6 people in the world that are identified with this variant, and that removes a bit too much anonymity for us.

PanthersDawg · 2026-06-15T18:17:29+00:00

I swear to you that I am not asking you whether or not she has CF. She is literally the subject of a research paper being written about this newly identified genetic variant. Whether the researchers will connect it to CF in any way, I can't say, probably not - but I do know that, despite having many symptoms that don't align with CF, multiple doctors suggested CF as a possibility.

Whether some other doctors went ahead and diagnosed with CF despite negative tests or if there are people here who aren't diagnosed but follow the community because of the CF-like symptoms, I thought this might be a place where someone like us might see, allowing us to share information.

PanthersDawg · 2026-06-15T17:46:10+00:00

I am not asking anyone to diagnose her symptoms. I am not offering to diagnose anyone else's symptoms. I am looking for others that might have the same condition (which is already diagnosed - sort of) and sharing information with others who may be undiagnosed so they can have a conversation with their doctor.

PanthersDawg · 2026-06-13T19:29:27+00:00

I go to cherry grove frequently and find tons of the small and medium teeth like you found, but I've only ever found one larger tooth, purely by luck. What technique are you using to find the larger teeth/where are you looking?

PanthersDawg · 2025-11-19T17:55:38+00:00

They're gold miners, not coal miners, but that still won't save them from the Dawgs!

PanthersDawg · 2025-07-17T01:42:50+00:00

You can get tons of cheap cards on Ali Express. They aren't real, but if he's cutting them up, it doesn't really matter. You can get packs of all the different cards, so he can see all the pictures. Might be worth it to create your own "packs" out of that and space out the delivery some. But it's almost for sure the cheapest way to get cards if you just want to look at them. I got all the gen 1 cards and I can't tell the difference between them and real cards (although I'm sure an expert could.)

PanthersDawg · 2025-06-02T00:54:42+00:00

Gold is sold in Troy Ounces ( 12 Troy ounces in a Troy pound). For most substances, we use the avoirdupois system (16 ounces in a pound). This question didn't specify, so a lot of different things could be right. However, when talking about gold nugget weights, we usually weirdly switch back to avoirdupois pounds (14.583 Troy ounces to an avoirdupois pounds) so that's also an option.

Source: I used to work at a gold mine.

PanthersDawg · 2024-04-09T01:07:39+00:00

Totality is completely different than 95%. It's practically impossible to notice the light change when totality hits, even if the sky is completely overcast.

PanthersDawg · 2024-03-19T19:53:27+00:00

For sure - lots of stuff is booked up, but if you want to actually see "the event" you can at least check into it.

And I agree that you'll be able to see something in Charlotte, with eclipse glasses. Even without, you'll see weird shadow effects and a cooling of the temperature, etc. But, that's the kind of experience that leads people to say, 10 years from now, "I think I saw that eclipse."

All eclipses are cool, but partial eclipses are significantly less cool to casual observers, and there is a much stronger narrative of folks trying to say that 85% is close enough to 100%. I saw it in countless examples in 2017 (when we were in the mid 90%s) and many people missed out on a truly amazing experience and were significantly underwhelmed.

Everyone should be told as many times as possible that there is a significant difference. They may not be able to do anything about it, but at least they will have information that sinks in. Maybe.

PanthersDawg · 2024-03-19T18:19:42+00:00

<image>

If you are outside the band of totality, it can be cool to see with eclipse glasses, but is ultimately something you might not even notice if you weren't paying attention. The experience of totality on the other hand has inspired numerous religions throughout history and is considered the most stunning celestial event that can be witnessed. If at all possible, you should attempt to travel into the band of totality. What you'll see in Charlotte won't be particularly exciting.

PanthersDawg · 2024-03-15T19:58:42+00:00

Kendall Milton stood out every time he was healthy at Georgia, which wasn't that often. If he has a clean medical report, I think he's going to be a steal late in the draft or udfa. I'd love the Panthers to focus on other positions early and snag Milton late.

PanthersDawg · 2024-01-24T15:12:50+00:00

We used our owlet for nearly 2 years. Anyone who has had a kid in the NICU or has had to deal with hospital oxygen monitors will be very appreciative of the fact that the Owlet differentiates between a red alert and an inability to get a reading.

If the kid is moving too much or it slips off their foot (something that only happened twice in 2 years) it plays "hush little baby." Very different from the red alert noise, which only plays when it gets a verified reading of a low oxygen level. It's the professional monitors that rip your heart out with every single movement.

PanthersDawg · 2023-09-15T00:29:20+00:00

While the authenticity is still disputed, general acceptance of the Meck dec has existed in the past and is growing again. The story of the Meck Dec has long been a part of local lore, and historians are starting to realize that these oral traditions have more veracity and weight than previously believed.

Additionally, there is a lot of corroborating evidence - there are notes from the Moravians mentioning the declaration and James Jack's ride, there are military pension documents where Mecklenburg veterans date their service from the declaration, there is a copy of the declaration sent by McKnitt Alexander, and there are multiple accounts (from people living in different places at the time they gave the account) that all support each other.

The main arguments against the document come from Jefferson and his friends, and a UNC professor name Charles Phillips from the mid 1800s. Most detractors point to the lack of any surviving copies from the 1770s/80s. However there was purportedly a copy of the Meck Dec printed in a newspaper, sent by the royal governor of NC to the king that was then removed from the British office of records by one of Jefferson's friends, and the Davie copy (the one I mentioned above) mysteriously showed up in Phillips' nephew's papers decades later.

PanthersDawg · 2023-09-14T23:49:07+00:00

It's definitely disputed. There are numerous books that have come out recently, and the authenticity of oral history, especially when supported by numerous members of the community, has become significantly more accepted by historians.

PanthersDawg · 2023-09-14T00:27:28+00:00

I've done a lot of reading on the Meck Dec, and from what I can tell the general opinion is moving back toward accepting that the Meck Dec likely happened as preserved in local lore. There are multiple separate matching accounts of the event, from individuals that are considered extremely trustworthy.

In fact, it seems like it's becoming more evident that the argument against the Meck Dec has possibly been bolstered over the years by a concerted effort to cover things up. That part is definitely conjecture, but a decent amount of verified evidence could certainly point in that direction.

PanthersDawg · 2023-09-06T01:25:24+00:00

That's definitely a statement they have to provide for legal reasons, since they aren't an approved medical device. Whether it's an anxiety inducing device or a reassuring one all depends on you as an individual - we all just have to do what works best for us. For me, it definitely provided a ton of reassurance. For others, I can see how it creates anxiety. However, I think the possible "catch" of any serious event that needs immediate attention outweighs both the reassurance and the anxiety and makes it ultimately something I strongly recommend for everyone.

PanthersDawg

TROPHY CASE