Geneticist

We went to visit Tripps geneticist this week and overall it went really well.  He thinks that Tripp is doing really well especially because of all of the time that he has spent in the hospital.  He basically told us alot of things that we had talked on the phone before when his test results came back positive for sticklers syndrome.  Just he needs to be monitored by an eye doctor for retinal detachment, that he could get arthritis early in life, hearing issues, and needs to be monitored for a heart valve problem.  And of course this is where the pierre robin came from.

There are 5 different types of sticklers syndrome, each effects a different collagen gene (a protein which is one of our "building blocks").  The type that he has is a dominant form it may have been caused by a mutation which would mean that this is a new thing for him, or either Ricky or I may have a mild form of sticklers syndrome and not know it.  And actually it is thought that sticklers syndrome is usually not diagnosed in most people who are affected by the disease.  This would be important to know in case we would also decide to test Bella, or for our siblings to get tested when they think about having children as well.  Because of this, we finally decided that we would get tested for it as well.  I went ahead and got my blood drawn for the test, and we will wait to see what the results are before we test Ricky (because if I do come back positive then we probably dont need to test him as well).

Overall it was a really good visit, the doctor really took a lot of time with us to make sure that we understood things which also gave us time to think of other questions that we may of had.  And he did a great physical assessment, and finally a doctor gave me a reason to why Tripp holds his ankles a different way (he said they show some pronation-where the ankle turns in making the foot turn out- but it is normal in babies and we should just keep an eye on it). This makes me wish I had asked him while we were in the nicu.  But it was definitely refreshing to see a doctor give so much time to his patients, I would refer him to anyone just because of that alone.  Other than that everything was good, and we are already having Tripp followed by the doctors that he needs to be seeing and other than the genetic testing for us he just wants to see Tripp back in a year :)


And some really good things Tripp has accomplished this week:
          We finally found some baby food that he loves! Baby yogurt! We are so excited for him just to be eating something through his mouth!

          And when we were up feeding him at 1am Saturday night, he said mama! Totally not expected as I was trying to get him to go back to sleep, he said it several times then and some more on Sunday but hasnt said it since.  But its a huge step for him because he wasnt even wearing his hearing aids!



*Anyone can give up, its the easiest thing in the world to do. But, to hold it together when everyone else would understand if you fell apart, that is true strength*