Has anyone been a carrier for SLO?

Question

I just got the results of my genetic screening and it turns out I’m a carrier for Smith-Lemli-Opitz Syndrome. Apparently it’s not very common, my doctor has never seen a baby born with it.
I’m a carrier, and it’s recessive, so the baby’s father also has to be a carrier, but I’m freaking out a little.
Has anyone else been diagnosed with this and can share their story??

Answer

My husband and I are both carriers. I am happy to share my story with you of you would like.

Answer

Hi, I am a carrier and so is my partner. We had a baby last year in September with the syndrome and he had the severe side and passed away at 20days old. We are now pregnant again only 5 weeks, but we can be tested at 11weeks to see if this baby has it. Honestly it's super rare and my baby was the only one that my doctor had ever met with the syndrome. If this baby has it we are having a medical termination as we cant have the heartache of burying another baby. If you want to ask anymore questions feel free to add me, I will be glad to give you any information I know x

Answer

Any updates from your story? I am in a similar situation and just wanted to reach out.

Answer

I just found out today I’m a carrier for Smith Lemli Opitz. I did the Natera test for my baby and they said she is fine but I still can’t help but worry a little. Did your husband do a blood test?

Has anyone been a carrier for SLO?

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