Living with Turners
-Eva was diagnosed with Turner Syndrome, 19 weeks in utero. We had opted to not have any of the pre-screens done and found out at the ultrasound that Eva had a chromosomal defect which turned out to be Turner Syndrome when we found out after doing an Amniocentesis. -Turner syndrome is a genetic condition associated with a number of physical findings. It occurs in 1 in 2,500 live births which is the most common cause of short stature in live female births. One of the manifestations of Turner Syndrome in almost all kids is that they're short. In addition, they may have some other physical features including abnormality with the palate, abnormalities in the shape of the chest, abnormalities in the thyroid gland function, infertility and some, they call, non-verbal learning disorder. -One of the options that was suggested to us was termination. But we-- that was not an option for us. -Given the vast diversity of kids with Turner Syndrome who were born, the decisions that are made are very, very challenging and very difficult. -We knew what we were going into, okay. So, our biggest thing was making sure that she would make it all the way to term, you know, and since the odds got better every week that we went through the pregnancy. -When Eva was diagnosed with Turner Syndrome, we went on the internet immediately, and did a lot of research. We found a group called the Turner Syndrome Society of the United States, and they have a website and we were able to go there, and get lots of valuable information. And also, we're able to talk to a volunteer that have had a prenatal diagnosis as well. -Unfortunately, there's no way to prevent Turner Syndrome. It can be detected prenatally by doing something called an Amniocentesis, where an abnormal x-chromosome is noted or the absence of one x-chromosome, whether it should be 2 normal x-chromosomes, you will see one that's abnormal or missing. So unfortunately, there's no way to prevent it, but it's something that could be detected. -First of all, it's great to see you both parents. Oftentimes, I only have the pleasures seeing one. So, kudos to you dad for coming in, I think that's awesome. The first visit typically involves spending a lot of time talking about what the family is about. What are their backgrounds like, what is there extended family structure, what are their needs, their conceptions and misconceptions? And try to tailor-make those initial visits for each child, in particular for that child in the family. It's very important that the family understand that not only am I taking care of the child, but I'm taking care of the entire family. -Our first visit to-- with Dr. Anne Hob was very important, because it really-that starts the relationship with us-- with the doctor. -Girls with Turner Syndrome begin to lose ovarian function even in utero. -The reason they come to the endocrinologist primarily, is to help them deal with infertility issues, the lack of development at puberty because their ovaries aren't functioning well, and the short stature that we [unk] with growth hormone. -Some of the problems that we may see with Eva, in her childhood as both adult life. We'll follow up with her cardiologist every 6 months now. She has a coarc of the aorta and a bicuspid aortic valve that needs to be followed up on. We will go to the endocrinologist, quarterly, to chart her growth. -So, moving a child with Turner Syndrome through puberty, where they wouldn't do it spontaneously, is a critical issue for doctors and for their kids with Turner Syndrome. And of course, dealing with the height, are two of the most important things that an endocrinologist can do and deal with. -For me, as far as like when she start administering her, we're gonna see her like shoot up an inch-- -It sound like funny how I grew up with kids, you know, I think as a doctor, it's gonna be possible. -I think it's important for parents to recognize that they're the biggest advocates for their children. So, the more educated a family is, the better it is and the easier it is for the position to take care of them. -[unk] of just taking a medical necessity for you. -At the end of the day, all we want is for her to be happy and be okay with herself and feel good about herself. And live a long and happy life.