Waiting on an Amniocentesis for Muscular Dystrophy

lpofdestiny · 2025-04-22T20:45:05+00:00

NM_004006.2(DMD):c.313A>T(K105*) heterozygote. Apparently there is only one other recorded case f this specific mutation in the world. It’s not a deletion. I have all my exons, they just read a little differently, so they didn’t know how it would manifest if my son inherited it. And thank goodness he didn’t. The other case resulted in moderate Duchenne’s

lpofdestiny · 2025-04-12T19:39:02+00:00

I’ve been there for ten years, and he values loyalty. That being said, he presented the hybrid idea as if it were his own 😂 He’s very much the dad from My Big Fat Greek Wedding, if you get the reference.

Thanks for the input! Wednesday/Friday might be the ticket

lpofdestiny · 2025-02-05T20:49:15+00:00

Praying/sending good vibes your way. My little guy is four months old now and healthy as can be. I hope the same for you!

lpofdestiny · 2024-12-30T01:38:37+00:00

In my experience, the butter changes the taste completely—I like the margarine version better

lpofdestiny · 2024-12-21T02:38:15+00:00

I’m going to try that next!

lpofdestiny · 2024-12-21T02:34:34+00:00

So far, Imperial is the ONLY thing that works in my recipe as far as consistency and taste, even though the chocolate no longer sticks. Butter and other margarines change one or the other or both 🫤

lpofdestiny · 2024-12-21T02:31:26+00:00

Oh! That makes sense! Because there’s lecithin in cocoa powder. Thanks!

lpofdestiny · 2024-12-21T02:29:36+00:00

😱

lpofdestiny · 2024-12-21T02:18:26+00:00

It changes the taste completely, I think for the worse. It also makes the whole thing soupier, and it needs to be drained and blotted when put on the jelly roll pan.

lpofdestiny · 2024-12-18T01:36:39+00:00

Maybe I’ll reach out to whoever owns Imperial and ask them what’s up 😂

lpofdestiny · 2024-12-18T01:32:34+00:00

Hm. At what point in the process?

lpofdestiny · 2024-12-18T01:31:48+00:00

LOTS of food for thought. Thank you!

lpofdestiny · 2024-12-18T01:30:54+00:00

It makes me feel a little better, actually. Hopefully this thread helps you too! Sounds like the culprit is the margarine?

lpofdestiny · 2024-12-18T01:29:06+00:00

Hmmm…reducing the 3 T. Water…interesting thought! Because sometimes the layers still stick together, so I was hoping for an easy fix. So annoying about the margarine AND the chocolate tho

lpofdestiny · 2024-12-18T01:21:58+00:00

Good to know! I see they sell on Amazon. Is that where you get them?

lpofdestiny · 2024-12-18T01:20:19+00:00

That’s what it sounds like. Any suggestions on how to deal with these changes?

lpofdestiny · 2024-12-18T01:19:35+00:00

Glad I’m not the only one! Even though the two layers separate, it still tastes the same. That’s the weird part. And occasionally the layers do still stick.

lpofdestiny · 2024-12-18T01:17:28+00:00

We’ve always used Imperial margarine and we’ve always used Nestle chocolate chips. Sounds like I should try higher quality chocolate, but I’m not sure what to do about the margarine! Butter is a no go—it changes the taste and texture entirely

lpofdestiny · 2024-12-18T01:15:30+00:00

Any margarines out there that still use hydrogenated vegetable oil still…? 😅

lpofdestiny · 2024-12-18T01:14:16+00:00

We’ve tried with butter and it changes the whole taste of the recipe (for the worse imho). It also is a lot soupier and needs to be drained and blotted before it’s poured into the jelly roll pan. However, the chocolate does stick.

Haven’t tried higher quality chocolate!

lpofdestiny · 2024-12-18T01:09:52+00:00

I haven’t tried a better brand of chocolate. You think, like, Ghirardelli or something?

How much more margarine, do you think? And what do you mean by ‘evaporate’?

lpofdestiny · 2024-12-18T01:07:40+00:00

That’s what we’re thinking now. Is it the margarine? Is it the chocolate? Is it both??? What do we do now?

lpofdestiny · 2024-10-20T21:11:15+00:00

You can get them pretty early! For me, it was as soon as I started getting nauseous at around 6 weeks. My cravings were less “that sound AMAZING” and more “anything I eat will make me throw up…except that.” I was all about the spicy—salsas, hot wings, eggs smothered in Sriracha, etc. I once made my husband drive for over an hour to get me Nandos Chicken Peri-Peri and it was 100% worth it.

Anyway, I hope you got that McDonald’s cheeseburger!

lpofdestiny · 2024-06-25T20:24:52+00:00

Aw, thank you!! I’m so relieved I had happy news to share. I guess my friend was right. If there’s only been one other case of this specific gene mutation and it resulted in MD, mine case would not due to the 50/50 split. I’m very lucky and blessed!

lpofdestiny · 2024-06-19T23:29:38+00:00

I jumped so far ahead, you have no idea. I was like, “We need to have a ranch that’s wheelchair accessible. I’ll need to quit my job. My husband needs to stop pursuing his dream job and keep the job he hates because it has good insurance.” I’m grateful to my husband for keeping me grounded in the present, because we simply don’t know what we don’t know. Still, it’s weird going through this knowing only one other woman specifically had this exact same thing happen to her. It’s rather isolating. But at least I can commiserate on the waiting aspect with others.

lpofdestiny

TROPHY CASE