Turner syndrome

IrishTraveler · April 2014

I had the MaterniT21 testing done a couple of weeks ago due to my baby's small size and a potential heart defect (which has still yet to be determined because she won't turn!). The testing came back positive for Turner syndrome, which I suppose is surprising since I am 29.5 weeks pregnant, and most Turner syndrome babies don't make it this far. All looks well with her, so my OB fully expects her to continue as normal.

Does anyone here have a child with Turner syndrome? Obviously, I'm scared because I don't know what to expect, but it is my understanding that I can expect her to be smaller in stature than normal, her growth will need to be monitored carefully, and if this heart problem is indeed there, it will need to be corrected. How "normal" will this child's life be (if there is such a thing)?

hopecounts · April 2014

Hi, I have Turner Syndrome and am happy to chat anytime about it and my experience.

Turner Syndrome can have a range but in general most are 'normal' with a few challenges that can typically be adjusted for and have minimal impact.

They do have a higher incidence of a particular heart problem (there is also the horseshoe kidney issue that occurs at a higher rate but assume that was ruled out during the u/s)

Yes typically TS girls are short, the average is 4'8 but personally I was put on growth hormone shots at 7 so reached 5 ft. So please discuss that option with your daughter's Endocrinologist when she is a bit older (I don't know when the standard is for starting them they were just out of trial when I started).

That's the other part find a really good pediatric endocrinologist they will be an important part of making sure your daughter has the best possible health managment because TS can have other side issues that pop up.
I became hypothyroid at 6 and began synthroid treatment which when managed is NBD.

I struggled in school with geometry but other than that was pretty much an all A student who loved to read, I still do. TS girls can have issues with depth perception and visual spacing (which is why geometry was beyond hard, as was parallel parking)

I went to college and graduated with a BS missing graduating with honors by a fraction (I am still mad at myself for my first semester when I had too much fun with my sorority sisters).

As you can see I am married with my wonderful daughter through donor eggs which is how we chose to address the infertility component of TS.

Please ask if you have any specific questions.

IrishTraveler · April 2014

I am most worried about having to tell her when she's old enough that she may not have biological children someday. Of course, there are so many wonderful ways to become a mom, and it may not even be important to her if she doesn't want kids, but that part of this equation is breaking my heart.

So far, it appears as though everything about her is normal on the ultrasounds with the exception of her small size and a potential heart defect. Without the amniocentesis, I guess there isn't a way to know for sure whether she has it or not, but I was told the MaterniT21 test is more than 99% accurate for this particular disorder. Will they do a chromosomal analysis at birth to determine her diagnosis for sure? If it isn't the mosaic type of Turner syndrome, what can I expect as far as growth? Will she just be a small baby who turns into a small child? Will her needs be different than any other newborn at birth?

I am just at a loss for even questions to ask. I suppose part of that is still shock and maybe a little bit of grief. DH seems fine with it and isn't concerned at all.

I'm also worried--and this sounds so superficial and I hate to even say it--that she won't look like we do in her facial features, and people will judge her based on that. On the other hand, my doctor said she has a TS patient, and she wouldn't even know she had it without the patient telling her.

Most of all, I just want this kid's life to be as wonderful and fulfilling as anyone else's, and I am looking for reassurance that she can have that.

hopecounts · April 2014

It does vary a lot in presentation so a lot of this will be a wait and see situation. In general she will just not grow at the rate of a normal kid so she will get smaller and smaller then her peers (the growth issue is caused by a failure to produce enough growth hormone) hence why they do do the shots which will help her grow more normally for her particular genetics. I am just 5 ft but that is normal height for most of the women in both sides of my family (gran was 5'1, grandmother 5'2, aunts 4'10 and 5'1) so even w/o TS I would likely have been around that height. As for telling her about the infertility, my mom just mentioned it casually from early on when she was explaining why I had to see the Endo, well before it meant anything to me so it was just kind of a fact, the same as being short or having blonde hair. When you line up a pediatrician and/or an endocrinologist ask what steps will be taken to confirm her diagnosis. She can absolutely have a happy and fulfilling life, it's just that what that looks like for her may be different. Many TS girls live perfectly ordinary lives so don't borrow trouble and do everything yu an to help her be as successful as possible. He of the best things my parents did was not let me or anyone else use TS as an excuse to go easy on me. I was expected to do what I needed to do and if I needed help,they helped me ask for it and learn to advocate for myself so that by the time I was dealing with geometry I called up a tutor and got the help I needed for myself.

IrishTraveler · April 2014

Thank you so much for that, @hopecounts‌. We aren't tall people either, so I'm not as concerned about height as I am the other issues. It sounds as though your parents did a wonderful job of making it a normal part of you life, and that gives me some confidence that maybe I can do that, too.

I appreciate the words of encouragement so much. Like @ChoicesMom‌, I had no idea anything was wrong until two weeks ago. I am still in some shock, but DH is perfectly fine. He's just excited to have another baby.

That is making it easier as well.

hopecounts · April 2014

Glad to help, and feel free to page me or message me if you have questions or just want to chat.

Definitely look into the national Turner Syndrome group, it is a great resource and there are often local groups where you can meet other parents and your daughter will be able to make friends with other girls with TS.

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