This is a sort of difficult post for me today, not exactly sure why, but here goes. We have decided to bring you all up to date since y'all are a part of our support system. Most of you do not know but Mikiah was diagnosed with Turner Syndrome about 4 days after birth. We had a few indicators at birth to have the genetic testing done, one being edema (swelling) in the hands & feet and her slightly wide spaced nipples. Turner syndrome (TS) is a chromosomal condition that describes girls and women with common features that are caused by complete or partial absence of the second sex chromosome. TS occurs in approximately 1 of 2,000 female's born and in as many as 10% of all miscarriages. For more in depth info here are the basics.
Mikiah has a few of the physical characteristics but for the most part her case is fairly mild (if you could call it that). She is missing her second sex chromosome on all of her genes which could lead to her being of smaller stature, average girl with TS is 4'7'', and she will have premature ovarian failure/infertility. Estrogen replacement therapy is necessary for breast development, feminine body contours, menstruation and proper bone development & Fertility without assisted reproduction therapy is rare (less than 1%). So MJ will most likely not be able to bare children with out medical intervention. We will also need to continue to keep a close eye on her Heart, Thyroid, Kidneys and will be testing for diabetes.
The reason I am catching you all up on this today is we just had her first Endocrinologist appointment. We drove to Texas Children's Hospital in Houston and learned a bit more about the next course of action. We had a good appointment with our new Endo Doctor. We will be going to see her every six months for the time being. The main thing we are watching for is her growth pattern, she is currently in the 33% for height, so she is still plotting on the normal growth chart. Once she begins to fall off that growth chart we will begin discussing growth hormone therapy with our Endo doctor. Most TS girls start growth hormone therapy around age 4 (we would like to avoid it if we can but also want the best for MJ and if it's a few more inches then we will choose to do it). Before we head back in August we will be running a few baseline labs for Diabetes including glucose levels and Insulin testing. She will also be doing a few more labs and blood work. We will be going over the results of these labs in August. So more to come later.
MJ was great today and enjoyed her appointment, although I think she was a little nervous as Texas Children's is HUGE, but super colorful and fun! She's a trooper!!