DD just diagnosed with Turner's Syndrome

[MeaganS]

My oldest dd was just diagnosed with Turner's syndrome. I am surprised, although I don't know why I should be. She already had an autism diagnoses, but I never thought it fit perfectly and always wondered if there was more to it than that or some other reason for her symptoms. My husband and I are both tall with tall or average siblings and she is off the charts short. Her 4yo sister is already taller than her and her 3yo sister is only about 2 inches shorter. Her pediatrician didn't think anything was wrong, but I pushed and got a referral to an endocrinologist. The endocrinologist didn't think anything was wrong, just that she was a late bloomer, but after doing a hand x-ray to see how much growth she has left and saw that she was predicted to be under 5ft, she ordered some genetic testing. And that's how we got here.

 

I am a little surprised because she doesn't have any of the obvious physical characteristics. I am also a little relieved because her autism characteristics make so much more sense (normal intelligence, socially immature, some language issues, but not a lot of other autism traits). I'm also worried about what this means for her because there are a lot of health issues associated with Turner's that we'll be testing for in the near future. I've never dealt with health issues like this and I'm afraid for her (possible heart and kidney issues) and she will require growth hormone shots and eventually help with puberty (probably estrogen).

 

I guess I just wanted to talk about this and my Mom is out of town and DH is at work and MIL is on the other side of the planet and asleep. This forum has been my online home for a while (since this daughter was a year old or so), so I guess that's why I came here. Do any of you have daughter's with Turner's Syndrome?

[sbbulliv]

My father's cousin has it and she is a lovely person. She has had some health issues but not too bad. She is in her fifties.

[OneStepAtATime]

So sorry, Meagan.  I know this is stressful.  Give yourself time to process.

 

I would like to applaud you, by the way, for continuing to press for more in depth evaluations despite professionals telling you not to worry.  Kuddos to you, Mom, for listening to your instincts. 

[8filltheheart]

My niece has Turner's and hasn't had any major health issues. She did take growth hormone shots. She is short, but not obviously so. She is currently in grad school and doing well. ((((Hugs)))) take time to process the info.

[PeterPan]

No help on the Turner's, but I'm glad you're finding answers!  And to find it early thanks to your pushing, that's wonderful.

[MeaganS]

So sorry, Meagan.  I know this is stressful.  Give yourself time to process.

 

I would like to applaud you, by the way, for continuing to press for more in depth evaluations despite professionals telling you not to worry.  Kuddos to you, Mom, for listening to your instincts. 

 

Thanks. I'm not into confrontation and hate people thinking I'm an idiot, but it was just too weird that she is so short in our family.  I honestly thought it was Celiac's disease or something, so this is a little surprising, although in some way vindicating.

[Bookworm4]

Hugs.  Good for you for pushing for answers.  My cousin has turner's syndrome and is in her 30's.  She has a variety of health issues, but her health problems started before your DD's age.  My friend's niece has turner's but has little other side effects related to it besides her size.

[shawthorne44]

My DD doesn't have Turner's, but she does have a growth hormone problem and needs a shot 6 nights a week.  In my case I was the mentally resistant one, but her pediatrician wanted more tests and I figured tests couldn't hurt.  I don't know in particular about Turner's but my readings on growth hormone issues says that the injections prevent or alleviate the health problems.  This is the explanation I came up with.  

 

People with a growth hormone deficiency are like a cake that is baked at too low a temperature.  When puberty hits and growth stops, they aren't fully formed yet.  So, not only are they short but their organs aren't finished.  This leads to health problems.  The injections are like turning up the oven temp.  

 

We are pretty certain my husband has/had the same thing.  He was extremely resistant to DD's treatment until he read the health problems that are probable, and he found every health problem he had on the list.  DD didn't have any noticeable health problems other than her size before treatment, but we did notice a vigor within a couple of weeks that had been missing since she was a baby and her growth curve flatlined.  

 

There is a facebook group for people with kids with these problems.  PM if you have trouble finding it.  

[kbutton]

My DD doesn't have Turner's, but she does have a growth hormone problem and needs a shot 6 nights a week.  In my case I was the mentally resistant one, but her pediatrician wanted more tests and I figured tests couldn't hurt.  I don't know in particular about Turner's but my readings on growth hormone issues says that the injections prevent or alleviate the health problems.  This is the explanation I came up with.  

 

People with a growth hormone deficiency are like a cake that is baked at too low a temperature.  When puberty hits and growth stops, they aren't fully formed yet.  So, not only are they short but their organs aren't finished.  This leads to health problems.  The injections are like turning up the oven temp.  

 

We are pretty certain my husband has/had the same thing.  He was extremely resistant to DD's treatment until he read the health problems that are probable, and he found every health problem he had on the list.  DD didn't have any noticeable health problems other than her size before treatment, but we did notice a vigor within a couple of weeks that had been missing since she was a baby and her growth curve flatlined.  

 

There is a facebook group for people with kids with these problems.  PM if you have trouble finding it.  

 

That is really interesting background information. I did not know this.

 

OP, no firsthand experience with Turner's syndrome, but  :grouphug: as you process all of this. As you know from the autism diagnosis, it's hard to hear something is not typical with your children. I hope you find specifically helpful resources. 

[geodob]

Hi MeaganS,

Your daughters ability with math is something that I would ask about?

As Turner's Syndrome has had an historical importance in understanding how spatial processing difficulties cause Dyscalculia.

 

So that I wonder whether she shares this difficulty with number sense and concieving of numbers as quantities?

[PollyOR]

:grouphug:

[Tiramisu]

Well done for advocating for your daughter. I hope she doesn't develop further health problems, but whatever happens she is in good hands with YOU!

[MeaganS]

Hi MeaganS,

Your daughters ability with math is something that I would ask about?

As Turner's Syndrome has had an historical importance in understanding how spatial processing difficulties cause Dyscalculia.

 

So that I wonder whether she shares this difficulty with number sense and concieving of numbers as quantities?

 

I'm not really sure. She got absolutely nothing out of c-rods and curricula like Miquon where she is supposed to see patterns and figure out the rules behind them. This surprised me a bit originally because both her dad and I are very good at math and would have thrived with ones like that. And her younger sisters seem to take after us in that way too.  However, she is doing pretty well with CLE right now, which is much more traditional and spiral. She seems to be memorizing math facts fairly easily, although she does have a difficult time figuring out how to do new types problems. She does really struggle with comparisons between numbers. Even now she consistently misses problems that say something like, "put the numbers in order: 125, 263, 18." She has no idea how to do them despite me showing her over and over and in many different ways. She used to have a lot of trouble in Kindergarten math with telling which was tallest and which was shortest. That seems to have gotten better though. She consistently gets A's or high B's on her quizzes and tests in CLE now (unless it has a lot of those ordering problems), so I think she's doing ok with a more traditional style. We'll see how it goes as she gets into more complex math though.

 

Because of her ASD, I was already aware that she would likely be learning differently, so I've already worked with her on that. Thankfully, she doesn't seem to have reading difficulties and her language issues are getting better all the time. There was a time I didn't know if she would ever be able to answer basic questions about a story, but she can now, which is great.