Infantile Liver Failure Syndrome 1
I am at a complete loss. My premature son (born at 29weeks) 36 weeks today was just diagnosed with the LARS1 Gene Mutation known as Infantile Liver Failure Syndrome 1. He is 1 of 36 known with this disease and there are basically only 2 peer reviewed research studies done on this disease as the gene was discovered only in 2012.
The limited research symptoms and prognosis is scary and somewhat grim with glimmers of adults having this being still alive and seemingly doing just fine..but the research doesn't explicitly state their quality of life and getting him to grow from now until age 2 is where the most dangerous season lies.
Does anyone know of any resources to help connect to potential others with this disease, like a database? Or how you advocated for yourself or child in regards to reaching out to other providers across the country. We live in MN and I am hoping that because this is so rare, I can convince some genetics doctor to be willing to look at our case but I just do not know where to start. Our team in the NICU have a slight plan but if he doesn't gain weight he will sadly not make it but if we stress his body too much, this gene mutation will cause his body to stop working properly and we have already seen it happen once.
Any ideas or tips would be so appreciated for this stressed out NICU parent - Thank you!