hi brandyanne and welcome to NT,

i read the information on the links abbie gave you. they were interesting.
the 1st thing you need to do is stay calm for your baby. IF he has this disease there are ways to manage it. and, i'm sure drs are learning more all the time.

try to take some deep calming breaths (difficult i know) and wait for the test results to come thru. it will probably take 2-3 wks (just a guess).

also, there is a lot of genetic research being done today and it's possible that one day gene therapy can help this disease.

i really feel for you but i'm glad your baby's dr is jumping on this and following thru with diagnostic protocols.

i'm sending prayers for you and your little one. please stay in touch with us.