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The Turner syndrome post

Posted by Anonymous   + Show Post
I do feel really bad for the mother's losses.. I commented saying that. The I remembered something about Turner's:

Only girl can have Turner's, op said she had a son and daughter die from it... So is she lying?

Turner syndrome is a genetic condition in which a female does not have the usual pair of two X chromosomes.
Causes, incidence, and risk factors
The normal amount of human chromosomes is 46. Chromosomes contain all of your genes and DNA, the building blocks of the body. Two of these chromosomes, the sex chromosomes, determine if you become a boy or a girl. Females normally have two of the same sex chromosomes, written as XX. Males have an X and a Y chromosome (written as XY).
In Turner syndrome, cells are missing all or part of an X chromosome. The condition only occurs in females. Most commonly, the female patient has only one X chromosome. Others may have two X chromosomes, but one of them is incomplete. Sometimes, a female has some cells with two X chromosomes, but other cells have only one.
Turner syndrome occurs in about 1 out of 2,000 live births.

Posted by Anonymous on Nov. 11, 2012 at 11:29 PM
Replies (91-95):
by Bronze Member on Nov. 12, 2012 at 4:23 PM

My daughter is 25 and has Turner Syndrome; when she was a newborn she had terrible digestive problems, colic, poor muscle tone, developmental the time she was five months old she still wasn't gaining weight, had begun to have strange little seizures where she would go stiff and have this terrible fixed grin/grimace on her face; she was started on seizure meds and at 5 months put in the hospital listed under 'failure to thrive,' which made me feel like a terrible mother. They ran many tests on her and also took blood from my ex, from me, and from her older brother (who was 3 at the time) to rule out any inherited diseases or defects that might be causing her delays and her failure to grow. It took until she was between 7 & 8 months old before the genetic tests all came back and her karyotype and all her tests revealed she had Turner Syndrome. In her case she had one full X sex chromosome and a piece of the second X, whose sticky ends had adhered to one another in a ring form, with of course bits missing. She did not have any webbing on her neck and between her fingers or toes, which can be one of the main characteristics of Turner's, but she did have very fat, puffy hands and feet, droopy eyelids and a wide, almost flabby looking chest. She had weak muscles and began having physical and occupational therapy at age 11 months. She couldn't sit up on her own till she was 11-12 months and then could only 'sit' by leaning way forward on her arms. She never crawled, just rolled over and over everywhere like a log rolling downhill, ha. She was about 14-15 months old before she took her first steps, and at age 1 she still only weighed 10-11 lbs. She always lagged up to a year behind on major developmental steps as she was growing up. She had chronic ear infections, another problem with Turner Syndrome because often their Eustachian tubes are too short and not formed right so bacteria easily builds up in their ears. She has lost 30% at least of her hearing, mainly in her left ear, and has had numerous ear surgeries. She has to be careful of her kidney function, as many girls with Turner's have kidney problems; she had to take growth hormone shots for several years beginning in adolescence up till she was around 14 (I had to give them to her; at first she got a shot daily in her arm, then they switched her to depo nutropin around age 13 and those shots were a bitch--three painful intramuscular injections in her thigh every 2 weeks, I had to mix 3 syringes of dry powder into 3 different doses and inject all three in her leg with a much bigger needle than the daily arm shots, so her poor legs took turns staying black and blue from the shots); she grew 5-7 extra inches on the growth hormone but still only grew to be 4'7" tall. Short stature is one of the major traits of Turner's. She has no female hormones to speak of and never had periods on her own; she was given birth control pills for 2-3 years in junior high and high school; but she also has autism and the periods were TERRIBLE and she'd miss so much school each time that it just wasn't worth it; I consulted with her endocrinologist, her geneticist, her regular famly md, etc about the risk of her developing a prolapsed uterus due to the syndrome and having no female hormones to speak of, and they decided the risk of her having a prolapsed uterus or uterine cancer off the hormones was minimal. So we took her off the b.c. pills and she hasn't had a period since. She needs vitamin D, vitamin B12, calcium, etc so we give her vitamin shots and extra calcium, but she still has osteoporosis and has developed degenerative psoriatic arthritis and herniated discs in her lower spine. She also became diabetic at age 18, and probably due to the tendency of Turner girls to have narrowed arteries and blood vessels and even a narrowed aorta, she had a mild stroke also in her late teens. She has always had trouble with her weight and metabolism, has vision problems (her left eye crossed in really bad at times as a toddler and they tried covering her good eye with a patch to make her use and strengthen the eye muscles in her weak eye, but she was diagnosed with astigmatism and ended up needing thick glasses, which did help her crossed eye). We don't know why she also has autism; while Turner's girls do have some emotional and developmental delays, their intelligence is usually normal and they can grow up and hold regular jobs, etc. Very rarely they can even bear children, usually through alternative methods of fertilization. But my daughter is infertile, of course, and with her autism she functions on the level of an elementary age child and needs lots of care and supervision. So her case isn't strictly the norm with Turner Syndrome, but having Turner's has definitely impacted her life and functioning.

ETA: When my daughter was 17 months old I had another female child, her baby sister; she was born perfectly normal, with no sign of Turner's or any other defect.

Quoting Ms.Pink.:

Just curious, if a female survived and was born.....what does Turners mean in her life?

by Platinum Member on Nov. 13, 2012 at 4:01 AM
Quoting nerthus:

Dear dear lady. Oh my heart hurts reading about your beautiful daughter and the painful path you have walked to keep her with us all. you are a saint and will remain in my mind at every prayer. I send you blessings that you and your daughter have nothing but joy for all her life.

people like you, mothers that shine the very essesence of motherhood, give me hopefor the world. I just want to thank you for all you have endured for you flesh and blood. You are the kind of hero I truly admire. thank you also, for taking the time to explain what turners means for those that are born.
by Gold Member on Nov. 13, 2012 at 10:56 AM
1 mom liked this
I agree that there are a lot of trolls out there so it's hard to tell sometimes. I'm sorry that i was rude. I am usually not that way.

Quoting littlesippycup:

I didn't call her a liar....I thought it was an anon troll, so that's what I said. I've never even heard all this before now. I didn't read where she came out in this post til afterwards. By then it was too late anyways. She asked if I wanted to see pics and that pissed me off. I'm sorry all this happened to her. There's just so many anon trolls it spoils it for people that really deserve and need some compassion. I'm just glad I didn't say anything stupid in her post.

Quoting amylovesnick07:

Like I told someone else she probably feels the need to prove herself because people like you keep calling her a liar. Maybe she has no one to talk to so she came on here for some support.

Quoting littlesippycup:

She asked me if I wanted to see pics to prove a point. She quoted me saying something to someone else. I didn't know, I was just commenting. She's overly emotional and being dramatic. I wouldn't be called a liar or dramatic because I wouldn't do shit like that. Her story is horrible and I feel bad but I don't see how her getting stupid with me is healing.

Quoting amylovesnick07:

Are you serious sippycup???? You are telling her she is being dramatic after she is going through a tough time? does it make you feel all tough? Grow up. How would you feel if you were the one going through this then be called a liar and be called dramatic?

Quoting littlesippycup:

You're being dramatic. Get a grip.

Quoting cueballsmom:

Quoting littlesippycup:

I'm not a troll. that was my post and my kids she is talking about. Would you prefer I post the pictures the nurses took of them?

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by Ruby Member on Nov. 13, 2012 at 11:49 AM
I'm sorry for your losses.

What do you mean, they pulled your eggs afterwards? What were they looking for?

Quoting cueballsmom:

Quoting Anonymous:

Normally, females inherit one X chromosome from their mother and one X chromosome from their father. But females who have Turner syndrome are missing one of their X chromosomes. Turner syndrome is typically caused by what is called nondisjunction. If a pair of sex chromosomes fails to separate during the formation of an egg (or sperm), this is referred to as nondisjunction. When an abnormal egg unites with a normal sperm to form an embryo, that embryo may end up missing one of the sex chromosomes (X rather than XX). As the embryo grows and the cells divide, every cell of the baby's body will be missing one of the X chromosomes. The abnormality is not inherited from an affected parent (not passed down from parent to child) because women with Turner syndrome are usually sterile and cannot have children. In 75-80% of cases, the single X chromosome comes from the mother's egg; the father's sperm that fertilizes the egg is missing its sex chromosome. Although the exact cause of Turner syndrome is not known, it appears to occur as a result of a random error during the formation of either the eggs or sperm.

here, since you can't be bothered. tricare covered me to be tested afterwards and the few eggs they pulled were fine. that means all arrows point to my husband, and or, environmental factors. I don't really care as I refuse to be pregnant anymore.

Posted on CafeMom Mobile
by Platinum Member on Nov. 13, 2012 at 12:55 PM
Quoting rgba:

Why, we were looking for why. two in a row like that is highly unusual and they offered it as a way to find answers. By that point, finding a why was an all consuming thought process. we literally exhausted every plausibility.

we found no concrete answers. Our decision at that point was to never conceive again. I'm at peace with that now.
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