"Afternoon,
This will be a brief, but very important update. Our hearts are heavy today but we have a very positive outlook for Macy and will continue to keep our heads up and to build Macy up as she continues to grow.
I mentioned in my last email that we ran a genetics test on Macy’s chromosomes to be able to rule anything out with all that has been going on. The genetics counselor for University of Missouri Children’s Hospital called me this morning with the results. Macy has something called Turner Syndrome. All girls have XX chromosomes and boys have XY chromosomes, Macy has only one X chromosome. She is still a girl, but the absence of this chromosome is classified as Turner Syndrome. The classification of TS is very broad. There are several “symptoms” that she could have or could never have. We know that the following things are in line with being common when it comes to TS; prominent ears, horseshoe kidney, small size, hole in her heart, and a few other small features. There are also a lot of things that it appears she does not have at this time. It does not appear that her missing toe has anything to do with her TS.
I hate to just leave it at this, but for the time being this is all that we know. I have attached a brochure that kind of briefly defines Turner Syndrome for you to read if you would like. We have a follow up with her Surgeon on Thursday and will meet with the Genetics team right after to talk about where we go from here. I do know that we will do another Echo on her heart to check a certain part that usually has issues when it comes to TS.
I want to be clear that this is not a disability and it is not mental retardation. In the grand scheme of things, it feels like a lot but she should have a fairly “normal” life compared to where we could be if it had been something else.
It is extremely important that we caught this so early, early intervention is key in most things like this. Everyone has told Brett and I how strong we have been through all of this and that will not change or waiver. You never know what you can handle until you go through it and I firmly believe that we can raise Macy to be proud of who she is and what cards she has been dealt.
Also, I am sorry that this is coming in email form but I wanted to keep you all in the loop and this is definitely the best way to reach everyone and make sure I share the facts and what we know. I am not ready for a ton of questions that I cannot answer now or ever. This is all very fresh for us. We appreciate your support of both us and Macy.
We love you all.
Sara and Brett"
