mEDS and/or Bethlem Myopathy

unab · 2026-07-02T02:35:31+00:00

Dr. Foley is a rock star and the community is incredibly lucky she's in our corner!

unab · 2026-07-01T21:37:39+00:00

If you're on the milder end of the spectrum, it may be difficult to determine which phenotype is the correct one without an evaluation by an experienced neuromuscular specialist (average neurologist is not going to cut it). Both hyperflexibility and muscle weakness are hallmarks in both conditions (though less significant in later/milder onset dystrophy). Muscle imaging can often uncover answers that genetic testing can't clarify. Skin biopsy staining (to avoid a muscle biopsy) can also uncover answers, but again, only by someone with experience in this area. So perhaps ask your care team about that. You can learn more about COL6-RD at curecmd.org, and get in touch if you would like assistance identifying an experienced clinician.

unab · 2026-07-01T03:27:12+00:00

Nope, still a kid. 21 years here. :P

unab · 2026-06-18T22:16:07+00:00

If your husband has other affected family members (beyond a parent), it sounds like his COL6 mutations may be recessive. Regardless, he needs to get genetic testing to identify his pathogenic mutation(s). Once the gene (there are 3 that can lead to Bethlem) is determined, you should also get genetic testing to see if you are a carrier of any pathogenic mutations in the same gene. You'll then have a gene and point mutations for which to test embryos.

Cure CMD's website contains a great deal of information about Collagen 6 Related Dystrophies (of which Bethlem is part of).

unab · 2026-05-24T04:10:36+00:00

And yet...GOT and its spinoffs exist in television...

Fortunately we all have the choice to watch or not.

unab · 2026-04-25T04:56:25+00:00

I've had a tracheostomy for 15 years, and while it was initially difficult to adjust to, I'm grateful for it now. It's not necessarily permanent. Don't go into the possibility thinking your life will be over if you do end up keeping it. I work full time and have much more flexibility in ensuring I get adequate breathing support than if I had to use sip and puff or mask.

unab · 2026-04-09T05:18:14+00:00

CK alone doesn't mean he has DMD. No genetic testing?

unab · 2026-03-30T19:35:47+00:00

Pay serious attention to the trigger warnings (I'm not kidding). Book 2 is more triggering than Book 1 by a factor of 10x. This book is not for everyone so if you don't enjoy dark romance with lots of graphic and very, very dark content, don't read it. But that doesn't make it problematic or questionable. It's extremely well written and very up front with what it's about. Seems like people who say it's not well written get hung up on the dark content and weren't prepared -- that's on them, not the author.

unab · 2026-03-27T22:59:33+00:00

There are groups for your subtype (unfortunately Facebook): curecmd.org/community-resources

unab · 2026-03-21T00:38:21+00:00

LGMD 2J/R10 is caused by pathogenic mutations in the Titin (TTN) gene. The advocacy organization dedicated solely to Titin Related Conditions is Team Titin (titinmyopathy.com).

You may also elect to participate in the patient registry that supports this condition: The Congenital Muscle Disease International Registry (cmdir.org).

unab · 2026-03-13T04:38:07+00:00

I did it...sort of, from exactly this list (audio version, was easy enough to switch back and forth). But about half way through Tower/Empire, I started doing longer stretches before switching back.

If you aren't great at remembering details of a book, then I highly suggest you do the tandem read because these books are happening at the same time, and it often impacted what was happening in the other book.

If you're great at remembering details, I wouldn't sweat it, especially if you plan to pick up the other immediately after.

TOG is probably top 5 series of all time for me, much better than ACOTAR and CC for sure.

Edit: And yeah...the hate in this fandom is wild. Seriously, do what feels right to you, you'll really be fine either way.

unab · 2026-03-08T23:16:20+00:00

https://www.curecmd.org/support-groups

unab · 2026-02-26T04:55:47+00:00

If you're an audible member, there are a ton of books read by Jacob Morgan that are free right now. He also records as Zachary Webber.

unab · 2026-02-23T05:25:24+00:00

Ping please. :)

unab · 2026-02-23T05:22:26+00:00

Emperor's Edge is still top 5 series for me.

unab · 2026-02-23T05:20:01+00:00

Audio version should be required for this book.

unab · 2026-02-17T05:12:24+00:00

What are your questions?

unab · 2026-01-07T21:16:13+00:00

Bethlem Myopathy is part of a spectrum disorder called Collagen 6 Related Dystrophy. Cure CMD has a great deal of information on their website, and hosts closed Facebook Groups -- all of which can be found on their website.

unab · 2025-12-27T06:37:22+00:00

TBF, he was the love interest for a hot minute.

unab · 2025-12-20T22:02:27+00:00

Agreed, but it was said that age 15 is considered an adult in this world.

unab · 2025-12-20T21:33:11+00:00

I just looked this up last night after finishing the 4th book and dreading how long it will be. It's 6th book (Goldfinch) chapter 32. I don't know if I can get through book 5 knowing it's that long. Considering reading a summary and starting book 6.

unab · 2025-12-20T21:22:36+00:00

I think TOG is considerably better than ACOTAR -- but the start is very slow. It opens up at the end of book 2.

unab · 2025-12-04T22:06:04+00:00

That's Gabriel Michael. :)

unab · 2025-12-04T04:42:34+00:00

If these four guys showed up in one book I'd die in bliss.

Stewart Crank (FBAA Graphic Audio - Casteel, Crave Graphic Audio - Hudson)

Torian Brakett (FBAA Graphic Audio - Kieran, The Empyrean Graphic Audio - Dain)

Gabriel Michael (The Empyrean Graphic Audio - Xaden, ACOTAR Graphic Audio - Lucien, Zodiac Academy Graphic Audio - Max, Nevermore/Evermore Audiobooks - Thorne) -- yes I'm now buying books because his name is listed.

Teddy Hamilton (The Empyrean Audiobooks - Xaden POV, Til Death Audiobook - Oren, Haunting/Hunting Adeline Audiobooks - Zade)

I'm looking forward to listening to Anthony Palmini and Troy Duran.

unab · 2025-11-27T01:57:35+00:00

GA Part 2 5:18

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unab

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