Nine Months After Diagnosis: Turner Syndrome

Our story started long before the diagnosis nine months ago, but that is the official starting point now. This morning we went to see the endocrinologist for a follow-up appointment. She sent us down to radiology to get yet another bone age scan of Ali’s wrist. The doctor called not much more than an hour later and told me that the bones had barely budged (still some room for growth), but that they appear thinner. Lower than normal bone density for her age has been a concern since Ali was three years old. Yet another piece of the puzzle along with several others that no other doctor ever put together before I finally spoke up a little louder last spring.

With this information, the doctor recommended continuing the same dose of growth hormone shots daily (what a trooper!) as well as begin a low dose of estrogen, in pill form, every other day for the next four months until we go in for another appointment. The doc hopes to avoid the bones closing too quickly by starting with a lower dose of estrogen but at the same time reap some bone strengthening benefit of the hormone. As long as the growth plates are fully closed, she wants to continue the growth hormone for any possible extra boost in growth. Her current height is 4’10″. There’s nothing wrong with that, but if it’s at all possible to get a little more height in this world that seems to be built for average to tall people, then why not? It’s easy to say, “Accept me just as I am!” But the truth of the matter is, most people really don’t. I know first-hand that looking younger than you really are when you’re ready to start taking on the world is a real pain in the ass. People don’t seem to take you seriously or give you a second thought because they assume you’re so much younger than you are. It’s no wonder we short people have to have such booming personalities!

We also found out that Ali’s case was presented at a quarterly conference! Her karyotype is about a mile long and one of the most complicated forms of Turner Syndrome out there. Her “condition” has reached celebrity status. I wish it had reached this status years ago. I know we can’t change the past, and it’s not going to help wondering about the “what ifs” but as a mother who only wants the best for her kids, I can’t help but feel disappointed in the medical profession for not recognizing all of these things and recommending genetic testing years ago. Maybe, just maybe, we could have been past this point and well into estrogen replacement therapy by now with all the benefits thereof in full swing.

For those who stumbled upon my blog post via internet search results, feel free to leave a comment to let us know what brought you here. I notice a lot of searches for the phrase “Turner Syndrome pictures”. I was equally curious but also relieved to find that hardly any photos found as a result fit Ali at all. Maxillofacial structure matches a little, but that’s really it. She’s a beautiful young lady with inner beauty to match! Shame on anyone who can’t or doesn’t take the time to see that in her. Our bodies are but a vessel; it’s our spirit … our soul that makes us who we are. Anything else is just a perk or an inconvenience – sometimes both in a strange sort of way.

Keep being strong, Ali-Bali! We love you!!! ♫ Princess Ali, Ali-ah-she, Ali-ah-bah-bwa! Genuflect, show some respect, down on one knee. ♫ (Quick! Can anyone name the movie I modified those words from??? …and Ali, you’re not allowed to play this one!)

13 thoughts on “Nine Months After Diagnosis: Turner Syndrome

  1. Hi! You have asked people to let you know what lead them to your page. I work as a surgical technologist at a children’s hospital and I was just clicking around looking up different genetic disorders. Your daughter is gorgeous! and your blogs are very full of information but easy to read. I do not have turners but I know all about looking less than your age (I’m always told that it will be a benefit one day!); I am 23 and just the other day was carded buying a rated-R movie, you only have to be 17 for that! I have also been asked at stores if I am shopping for a prom dress and if I am “old enough” to apply for an in-store credit card. So to Ali, it happens to the best of us!

  2. Hi there, I stumbled upon your blog because my daughter has Turner’s and I occasionally search for someone I can identify with. I’m glad to see blogs popping up here and there. I just read this posting and haven’t yet read all of your story but I will. We found out my daughter has Turner’s at her birth. She is completely missing the x. I’ve found out over the years that most girls are mosaic. My daughter is kind of textbook, classic Turner’s I suppose. We go to an excellent hospital for her appts, but it is a teaching hospital. We’ve had lots of drs coming in to show interns the classic features of Turner’s patients. I don’t mind if it helps them learn more about it. Amazing how little some doctors know about this particular syndrome. Anway, my beautiful little girl is 8 now and doing well. She is not quite 4 foot yet and quite a bit shorter than other 8 yr olds. But she is strong and sweet and quite a little fighter. TS girls have an extra special place in my heart. She was recently diagnosed with Celiac’s Disease. Doctors are finding out now that many more TS girls have it than they realized. She has a mild aortal coarctation that hasn’t needed surgery and she has double ureters from her kidneys to bladder. She started gh shots when she was 21 months, so we’ve been at it for 6 years now. They project she’ll be 4.10 or 4.11. She has some learning difficulties including dyslexia, but she is a very talented artist. Anyway, glad to see another beautiful TS girl out there! All the best to your family.

    • Thanks for leaving a note! My Turner posts definitely get the most traffic daily on my blog. When I look back at certain things that happened while Ali was growing up, a lot of things make more sense now. :) While Celiac’s is in the family and even more of a risk with Turner girls, Ali’s tests for that have been excellent. All the best to you and your family as well!

  3. My daughter was diagnosed with Turner Syndrome in September 2010 at the age of 17. For years, none of the specialists she had seen put the pieces together as to why she was short, etc. My daughter Arielle has had 2 heart transplants since she was diagnosed. I keep wondering if we would have known about the Turners, if she could have avoided having the transplants since she would have probably been under the care of a cardiologist. I understand your frustration! Your daughter is very beautiful and I’m sure God has a great plan for her! She can be an inspiration to other Turner girls!

  4. My daughter Hailey just turned 13 and 1st appt with endocrinologist suggested TS and I am terrified that her last bone scan showed age 14 and I really want her to get HGH injections although she is 4’7″ now. But the endo was going to review and see if he agreed with radiologist and she has started her cycles and is going throughnpuberty on her own from a year ago. My daughter was born at 26-27 wks gestation and was one lb 13 oz, so we knew she would be playing catch up to her peers in height.

    • My sincere apologies for a horribly delayed response. I’m curious as to why your endocrinologist suggested TS if your daughter’s bone scan suggested age 14 for a 13-year-old girl who has already started her cycles. It doesn’t sound like there’s any issues with her ovaries producing enough estrogen. I would love to hear an update if you’ve since completed genetic screening blood work.

      • The endo wanted to go ahead and ve diagnosis TS before her bloodwork(she had a lot of characteristics crowded teeth, small hands) it was the one of her previous hormone levels was showing her ovaries were “misfiring”. Anyhow her shox and chromosone tests show no TS. So now we are onto HGH deficiency testing on 7/19. Which I guess can lead to either result of short stature or HGH deficient and then its up Aetna to cover cost if eligible for injections.

      • Good luck with all of that. Hopefully, if needed, Aetna will provide decent coverage for you. We have BCBS, and they’re alright. I’ll be posting another update in a couple weeks when we meet the adult endo at a sort of cross-over visit at Children’s. What a great way to transition!

  5. My daughter has coarctation of the heart. It was her cardiologist that suggested we get her checked because he noticed her small stature. I recieved a phone call just this past tues that the results came back positive for TS. Ever since then all I do is research. My husband gets so upset with me cause he always finds me crying or trying not to. At times I fall behind schedule with my daily house chores or supper or forgeting to pack her lunch and snack. I feel as if it is taking over my life. She has lerning difficulties at school. She can’t deliver messages to or from the teachers. She is not on the same level as her piers. This is tearing me up. She is 6 yrs old will be 7 in Jan. she is missing half of the x chromosone. Zygote.. If I’m saying it right. I know I heard half of somthing. I was so tooken back and it was so much info at one time on the phone I just couldn’t keep up. I live in Houston Texas. If you can just give me some advise on what questions to ask, what demands to make or even what to look for I’d appreciate it.. That would be great. I also did research on her heart condition and from I gather she may need surgery but her dr. said diff.. This all to much.. I too look for pictures all the time, but can never find someone with her same eyes. Her eyes are the only thing that stand out with her. It seems that they are all diff in thier own way. She has a dr.s appt Nov 1st..

    • Hi Annette! I totally understand. You’re in that stage immediately after finding out where you are overwhelmed and grasping for understanding. Although you may have suspected something was different, getting that official diagnosis still comes as a shock. If I were there, I’d give you a hug! I don’t have a list of specific questions for you. The doctors will ask if you have any questions. Of course we have questions! We just don’t know exactly what to ask. First, ask them to explain in detail what this means for your daughter and her future. I wish I could say otherwise, but I don’t think your tears are over yet. Ask what this means for her ovaries. Every karyotype is different, so you can’t go by what you read on the internet (what little there really is out there). Our daughters are each 1 in 2000, but they are 1 in so many more than that with their unique karyotypes. Your next steps will probably be a bone age scan and an ultrasound of her kidneys. If you’re on Facebook, check out the Turner Syndrome Society there. First and foremost, look to your doctor for answers as they pertain to your own daughter. If your husband can go with you to any or all appointments, he definitely should. I think men don’t take it the same way we do because they’re wired differently and because they can’t relate to losing a part of what makes us women. Above all, don’t look at this as a defect. This is your daughter. Period. It’s a confusing, unexplainable thing that happened. It may mean living life a little differently, but it shouldn’t define who she is. As overwhelming as it may seem right now, don’t let it consume you or how anyone views your daughter. Celebrate who she is HOWEVER she is. :)

  6. I found your page by searching for information on Turner’s. After 2 IVF cycles resulted in 2 early losses, my reproductive endocrinologist ordered karyotype tests for my husband and me. (We were pursuing IVF because of male factor infertility). 26/30 of my cells came back 46XX, but 4 came back 45XO, so I have a low percentage mosaic form of Turner’s. Other than Hashimoto’s and surgery to correct a lazy eye, I have no other manifestations of the syndrome, but I am nervous about our chances for a successful pregnancy.

    • Thank you for sharing! It’s interesting to learn about other karyotypes of Turner Syndrome. It pushes home the fact that it’s not just a “you have it or you don’t” thing. Think of the need for glasses. There are many different prescriptions. :) Wishing you the best of luck for a successful pregnancy!

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