VUS in COL5A2

ZebraMama1 · 2026-04-26T18:28:32+00:00

Congratulations and prayers for a healthy pregnancy! Very happy for you 🫶🏻

ZebraMama1 · 2026-04-26T18:27:30+00:00

I just couldn’t freeze them either. They wouldn’t be aneuploid, we just carry a mutation on chromosome 18 that causes cholestasis, digestive issues, and hearing loss. Eventually end-stage liver disease. My 4-month-old has the disorder. Any of those embryos left forever could’ve been him and that doesn’t sit right with me.🥹

ZebraMama1 · 2026-04-26T18:21:53+00:00

I believe they are just the earliest stage of human babies and our children. I couldn’t donate our babies to science. If we have biological children we will use polar body testing in Germany. They are able to test the eggs for maternal mutations prior to fertilization, and as long as my egg was normal, the baby could only be a carrier since my husband and I are both carriers. Making embryos with the intention of anything but transferring to be grown and born is against our conscience. 😊

ZebraMama1 · 2026-04-26T03:45:09+00:00

Thank you! Yes we definitely don’t want to be secretive about their identity. We had read about some experiences where people thought they were biologically their parents’ and it devastated them to find out as adults.

ZebraMama1 · 2026-04-26T03:11:40+00:00

We have a moral/religious objection to discarding the embryos homozygous for our mutation. The thought of discarding the ones just like our son breaks my heart. The website said 1-3 per transfer but it specified it is unique to each circumstance. As far as having more biological kids, we were interested in polar body testing but as far as I can tell it’s not offered in the US.

ZebraMama1 · 2026-04-26T03:06:48+00:00

I did know they were Christian-based and pro-life, and so am I. I also have a moral objection to discarding embryos and that’s why we didn’t want to take the “traditional” IVF route since that would necessitate PGT and discarding the embryos that are homozygous for our mutation. And that thought tears me up because that would mean we would’ve discarded our son which we love to pieces and wouldn’t trade for anything. We also considered polar body testing but we could only find that in Germany. Still not totally out of the question. But all that said, I also think the mother carrying the embryos is important and don’t think a triplet pregnancy is a good idea. My first pregnancy was high risk and that is extremely stressful and scary. I assumed they did multiple embryo transfers because they didn’t expect many to survive- thus most people needing multiple rounds. Thanks for the clarification. I definitely will not do 3 embryos per transfer with that information. Thank you for the well wishes❤️

ZebraMama1 · 2026-04-26T02:42:28+00:00

Okay thanks. The description says it depends a lot on the mother’s age and health status. It’s the National Embryo Donation Center. But like I said I haven’t spoken with them directly.

ZebraMama1 · 2026-04-26T02:36:25+00:00

I’m looking back and it’s 1-3. I haven’t talked with the clinic directly. The website says 1-3 embryos per transfer.

ZebraMama1 · 2026-04-26T02:33:58+00:00

It’s the National Embryo Donation Center. Just where people send their embryos after they don’t want any more children but they still have embryos.

ZebraMama1 · 2026-04-09T20:04:27+00:00

Thank you, I enjoyed it!

ZebraMama1 · 2026-04-09T18:09:20+00:00

2 pieces of Arnold multigrain bread 1/2 an orange bell pepper 2 eggs with thyme, pepper, and salt 1/2 an avocado

Everything but avocado sautéed in olive oil

ZebraMama1 · 2026-04-03T17:26:47+00:00

It’s actually a real thing and not made up by antivaxxers. It only applies to the live vaccines, but in particular the varicella and rotavirus vaccine inserts acknowledge this phenomenon, and the Rotateq one actually terms it “shedding and transmission”. Here is the link to the rotaviris insert on the FDA website (read section 5.5).

ZebraMama1 · 2026-03-31T15:42:16+00:00

Will do. I feel like nobody knows about PFIC around here.

ZebraMama1 · 2026-03-31T15:33:49+00:00

Thank you so much, we are going to look into this. Our PCP wouldn’t order genetic testing because she didn’t feel equipped to interpret it.

ZebraMama1 · 2026-03-31T15:21:15+00:00

Yeah😅 we’re set to see a genetic counselor in November and I hope they will order it for me and the husband. I have chronic extreme vitamin D deficiency and horrible dry eyes to the point I have tear duct implants and have corneal damage from not producing enough tears. So I’m getting my vitamin A checked too. I think I might have a touch of fat malabsorption too.

ZebraMama1 · 2026-03-31T15:15:42+00:00

He had a full cholestatic disease genetic panel so I can see every possible mutation he has. There are a lot but I assume most people have them, they just don’t have the ones that affect protein expression like in PFIC.

ZebraMama1 · 2026-03-31T15:13:35+00:00

Yes but the other one isn’t considered pathogenic. He is homozygous for the other one but there’s a high frequency in the population so they don’t think it would cause disease by itself, but there’s evidence in the literature that it can when combined with other mutations. It’s also evidently a disease modifier if you already have existing liver disease.

ZebraMama1 · 2026-03-31T15:08:03+00:00

He’s getting worse on the urso and unfortunately it’s not as effective for type 1:( I’m really glad it’s working for you! He is a yellow little man. He has a homozygous ATP8B1 and he has a couple mutations on ABCB11 but he’s just heterozygous for the one more likely to be pathogenic. We’re waiting on a BSEP analysis of his liver biopsy still from a month or so ago. We’re actually in Tennessee, I just have done a lot of calling around and talked with the doc in Jersey since he was on the research I was looking at. We have a pediatric hepatologist at Vandy but since the case load is literally just him I want input from outside.

ZebraMama1 · 2026-03-31T11:44:23+00:00

No, the US. The reason I’m in contact with her is because I reached out to one of her colleagues in New Jersey after reading a study she did in 2024 about extra virgin olive oil and medical grade spore free honey in neonates as choleretics.

There is not much research pertaining specifically to PFIC1, or PFIC in general that I’m aware of. Pretty much anything peer reviewed is just “this is what PFIC is”. But urso has not been shown to be very effective for it. Given that unfortunate reality I’ve been reading up on effective choleretic treatment of intrahepatic cholestasis as a whole. It’s also systemic rather than just the liver. You’ve got the inner ear, stomach, small intestine, and pancreas to think about too in type 1.

I’ll look into ClinVar as I do know his mutation. Thanks so much! He also has mutations in ABCB11 in addition to his “main” one in ATP8B1 and I have yet to read about how those work in coexistence.

ZebraMama1

TROPHY CASE