I'm asking this b/c my family has a history of OI - osteogenesis imperfecta - a genetic disease that affects the bones, also referred to as "brittle bone" disease. My grandmother, father, one of two uncles and my older brother all have it. I have always been told that I do not - but I am not sure if that is because I had no signs/symptoms or if I was actually tested as a baby. I also had always been led to believe that there were no "carriers" for this disease, so if I didn't have it - my baby wouldn't. Now I'm reading there is a thing called "mosaic" which could mean the genetic mutation could occur in some but not all of my cells, so I would not exhibit any symptoms but could still pass it on. I don't know which is correct.
My 10 week old baby is exhibiting two of the signs for it -- blue sclera and loose/cracking joints -- and I'm wondering if I should have the baby tested (either xray or DNA testing - neither of which are good for newborns, so would like to avoid it if these are normal baby things).
I know the blue sclera can occur in normal babies and will go away with age - but I'm not sure when that goes away? I'm not sure if the cracking joints is normal? Do your normal babies have joints that crack? His shoulder joints make a soft crack almost every time I pick him up, and now that he is moving his arms and legs, i'm noticing it in his knees and ankles - though it doesn't seem to bother him.
As an aside, my brother had a baby a month after me, and since they knew the baby would have a 50/50 chance of getting it - they tested his cord blood which came back negative, yay!
Re: Are loose and/or cracking joints normal?
cracking joints can be normal in babies. My older daughter had them and this baby does as well. I mentioned it to my pedi both times and he said it was normal, but they do double check things if it is the hip joint...which it was for my older daughter.
I would talk to your pedi because of the family history, but to answer your question, yes it can be totally normal and not mean a thing.