Carrier of rare genetic disorders

Eleni • Married. Mom & Stepmom ♥️

I took blood for the extensive Natera Horizon genetic screening panel, primarily because I’m Greek and was concerned about Thalassemia which is not included in the basic panel. This disorder is most common among those of Mediterranean descent. Although that came up negative, I came up a carrier for two rare things.

1. Citrullinemia type 1

2. Rhizomelic chondrodysplasia punctata type 1

They are both fairly serious, especially the second which is a type of dwarfism that includes intellectual disability. My husband would need to be a carrier for there to be a 1/4 chance of it affecting our baby, so I’m trying to stay calm until he is tested.

Has anyone had experience with these disorders? Been a carrier of them or of other rare diseases? I would like to think statistics are on my side but of course I’m still concerned.