Our new LO (now 5 weeks old) had something come up on the newborn screening for Fabry Disease ... which is a missing enzyme that can cause problems later in life. They said they just added to the screening recently because they can now replace the enzyme. It wasn't showing he was completely missing it, his level was just on the low side.

We had to take him to a children's hospital when he was a week old to get blood drawn for the genetic test, which they sent off to Mayo. Got the call this morning that the second test was also low and they do think he has the disorder. They said they don't do any sort of treatment during the newborn period, but they want to set up with a genetic counselor to talk about the disease and treatment in detail. Just curious if anyone else has gone through this. I'm guessing they will want to test our 3 year old for it as well.