Discussion in 'Haleigh Cummings' started by JBean, Feb 17, 2009.
What do we know about it?
Occurring in 1 out of every 2500 girls, the syndrome manifests itself in a number of ways. There are characteristic physical abnormalities, such as short stature, lymphoedema, broad chest, low hairline, low-set ears, and webbed neck. Girls with TS typically experience gonadal dysfunction with subsequent amenorrhea and infertility. Concurrent health concerns are also frequently present, including congenital heart disease, hypothyroidism, ophthalmic problems, and otological concerns.  Finally, a specific pattern of cognitive deficits is often observed, with particular difficulties in visuo-spatial, mathematic, and memory areas.
Turner's Syndrome is a chromosomal disorder found in females. Females have 2 X chromosomes and in this syndrome one is missing or altered.
My 7 year old granddaughter has TS. In the custody transcript it states that she had a cardiologist and an endocrinologist. That probably means that she has a heart condition called aortic stenosis and that she is taking growth hormones. There was also a problem with the kidneys, but it didn't state exactly what. All of this is common to TS. The thing that worries me about this is that TS girls have poor spacial perception (some can't get a driver's license because of it) and they do not recognize nonverbal cues (don't process emotions in other people--you have to specifically tell them you are mad, scared, etc) so she might not pick up on weird behavior in someone she knows-- she would not be frightened to go with them and stay with them--unless they hurt her or said they would hurt her. Lack of spacial perception makes me worry that she could have fallen into the river or something like that because she would not be as aware as most people of her surroundings and the boundaries. TS girls can't have children--they do not have periods-and they do not develop breasts unless they begin female hormones at the age peers go through puberty. She does not appear to have the webbing of fingers or on her neck. Her TS could be a mosaic form (not all chromosomes are missing #46) or pure TS (all chromosomes are missing #46). I hope this was not too much info. Didn't mean to write a book, just have lived with it since my daughter was 4 months pregnant and the ultrasound guy detected the heart problem.
Oh man I am sorry Finana, What a tough deal. Does this manifest itself in behavioral issues?
What I mean is, would Haleigh be difficult?
Thanks for your insight. :blowkiss:
Do girls with TS have to take synthroid to stimulate their thyroid?
Bless these little girls........so many problems, but Haleigh looked happy.
My granddaughter doesn't take anything for her thyroid at the present time, but maybe later.
As for the behavior--it can be difficult. Most of these girls have very high IQs, but very poor social skills. For instance, if she asks a question she will keep asking it continuously until you answer--there's no "wait for the answer time". If she is doing something that is annoying (kicking the chair leg,etc), you can't say "stop that" you have to say " stop kicking the chair leg over and over". My granddaughter is a very sweet and polite girl. It's not like she has no clue what is going on--her brain just doesn't recognize facial or body language. She also can't always tell by tone of voice what you mean-you can't tease her, she takes everything literally. I imagine for a 17 year old that dealing with some of these behaviors would get on your nerves and I don't think most would have the maturity to recognize it as something the child doesn't do on purpose. The spacial difficulties are a problem in that they can't always gauge the distance to the table with a cup or glass so you have a lot of spills. If you teach them to touch the table with the other hand before putting anything down, they don't spill. You have to do a lot of research and trial and error. Once you figure out the limitations you can find strategies to deal with them. I just wonder if this family was aware of the resources available to help them get to this point. I don't mean to say that they are uneducated, just maybe uninformed.
Oh thatis a very informative post. Thank you for sharing your personal experience.
My best friend in high school had Turners. She is of short stature 4'11 but everyone in her family is short. Straight A student, lots of friends, nothing unusual you would ever notice. She had to start on hormones at puberty. Unable to have children. That's all I remember except to reiterate she is perfectly "normal" and you would not notice any difference in her. Sweet girl, I should call her and catch up.
Thank you. I just asked because my youngest DD has congenital hypothyroidism and her doc tried to take her off her meds last year, we could tell a difference in her within a few days and back on she went...with Haleigh being missing, I was worried about her feeling badly is she needs meds and isn't getting them, although it's looking like that may be the least of the issues.
When I heard that Haleigh had TS, I wondered how the girlfriend being so young was able to adequately take care of Haleigh. Children with special needs need more attention and patience. You are so right about the resources available to families with special needs children. Oftentimes I see that parents can be informed of the resources, but are not taking advantage for whatever reason. It's really sad.
My son has special needs as well... he's grown now and doing well. I hope your granddaughter does great
flnana, thank you, that was very informative and your GD is a very special girl because she has a Grandmother who learns about her special needs! That is a gift, but a greater gift to share with others to get a better understanding in such a possitive way! :blowkiss:
My cousin, who has Turner's, can be heck on wheels. Love her, though. She has some serious spunk.
Thank you. She is doing great. You're right--it takes a lot of patience and love.
TS is like any other syndrome. Different people have different degrees of the symptoms. Luckily for my granddaughter, we are all short too! Other than the scar from the heart surgeries, looking at her you couldn't tell she has Turner's. Call your friend--it's too easy to lose contact with good buddies these days!
Thanks. I like to research things to death! I have found that the more I know about something, the less frightening it is (other than Caylee's case--it seems the more I learn about that, the more frightening it is).
Didn't know which thread to put this in... so I'll put it here since it's related to her medical situation.
I didn't know that in addition to Turners, Haleigh also has asthma (per maternal grandma in this article below). I wonder if she needed meds for that too? Could this be way anyone in the trailer who smoked had to smoke outside??
Thank you for sharing, Flnana. I was very curious about this syndrome and it's always best to learn from someone familiar with it first-hand. Your granddaughter is blessed to have you, and so are we.
Thank you for your very informative posts. Your granddaughter is so lucky to have you at her side. :blowkiss:
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