Seeking Support for Trisomy X or XXX Genetics Disorder or Anyone with Info

Hello, I have not heard of this before today and so it sparked my interest. I did a bit of online research and learned something new! Basically I guess it means that her baby girl has an extra X chromosome on every cell. Most women have 2 X chromosomes on each cell. Girls with this condition have 3. It seems like many of the girls born w/ this syndrome look and grow up generally normally. A few speech and learning delays perhaps, but it is not something that would make me want to terminate the pregnancy or anything drastic. Although that is a very personal choice I understand. And yes, there are varied degrees of severity with this syndrome. I found a yahoo support group. http://health.groups.yahoo.com/group/trisomyx/
Hope that helps. It must be so scary for your dear friend. Tell her that she has lots of love and support available to her at MamaSource. She should join! It sounds like she would be a wonderful asset to the community. Best wishes. :)

Hello,
Is this related to Down Syndrome? I know Down Syndrome is refered to as Trisomy but am not sure of the #. One of my good friends has a now 3-year-old daughter who has Down Syndrome. She did not know it until Madison was born. She then joined the local chapter of the Down Syndrome group. She has said that talking to the other parents in this group helped her so much to learn to adjust to this new way of life. She couldn't have done it without their help she said. She is now one of the advice moms who helps other brand new parents of children born with Down Syndrome. The group is called Silicon Valley Down Syndrome network and is run by a non-profit called Parents Helping Parents. Their website is www.php.com. If Down Syndrome is not the genetic condition you are referring to, perhaps PHP could still be of some help if you called. Also, if you'd like, I can get in touch with my friend. She is likely aware of other genetic disorders now and could offer a starting point. I can be reached at ____@____.com,
S.

My girlfriend had a pregnancy with a Trisomy baby. It is MUCH more severe than Down Sydrome. Most Trisomy babies will not live more than 6 days out of the womb. Additionally most in most case your body will spontaneously abort the trisomy pregnancy because it knows it isint right. She and her husband made the choice to not carry the baby to term. She was 41 years old at the time. Her next pregnancy also resulted in a miscarriage, and finally at 42, she had a healthy baby boy, who will be 6 in three weeks.

I took a Human Heredity class a couple years ago. Basically, there are 23 chromosomes from each parent. The 23 from the mom and the 23 from the dad pair up to make 46 total chromsomes.
Sometimes there are problems with the splitting and replication of the chromosomes (could be in the egg or sperm) and the baby ends up with more or less than 46 total.
For most of the chromosomes, duplication or other errors would lead to miscariage or stillbirth. There are 2 exceptions: Babies with 3 of the 21st chromosome can survive, but have down syndrome. Also, babies with irregular combinations of the X/Y chromosomes can also survive. Irregular could mean single X, XXX, XXY, or other combinations besides the normal "XX" and "XY". There are some potential medical issues, but you can definitely live a normal life with XXX. Hopefully this explanation will help out.

Here is some more info:
http://en.wikipedia.org/wiki/Trisomy_X

I just wanted to say that I think the baby that Betsey was talking about that only lived 6 days probably had Trisomy 18 which is different than Trisomy X. Trisomy X, from what I've read, is very mild and often goes unnoticed.

I have a daughter who will be three in December who was diagnosed with Trisomy X when I had a CVS due to being 40 when I conceived. First I want to respond to the person who said Trisomy was more severe than Down's. This is NOT true. Many girls with XXX are never even diagnosed because they have no symptoms. Our daughter has had very mild gross motor skill delays (didn't walk until 18 months) and has been in physical therapy twice a month since she was 6 months old. Other than that, she has been a total joy--no major problems. There is a Yahoo Group (raregeneticsdisorder) that has been extremely helpful. I highly recommend this. The doctor doing the most research on this is Dr. Tartaglia out of Denver. I was very freaked and stressed during my pregnancy (mostly by the lack of good info on Trisomy X) but the resources I mentioned helped tremendously. Best of Luck.

Dear Friend,

What a good friend you are to seek help.

I am the mother of a 14 year-old daughter who has but is not defined by her genetic anomaly/XXX.

Yes, we have had some challenges along the way, but they have been far outweighed by the joy she has brought into our lives.

Pluses: Smart (by any standard), imaginative, creative, free spirited, knows just who she is, tall, lovely, artistic, good at math, writes better than most adults -- really knows how to through those semi-colons and parts of speech around to great affect.

Minuses -- Her challenges were noted early by preschool and other teachers as well as us: sensitivity to sound, difficulty (getting better all the time though) reading social cues fast enough, processing sensory overload, and a range of things associated with executive functioning -- getting to class on time, participating, getting homework done, following through at home too. The school-related things are all just a little more pronounced than normal; enough to get noticed and commented on.

Sometimes we've looked at it as her being about two-years behind her peers in terms of social/emotional development; but that doesn't quite sum it up; she's a little more idiosyncratic than that. But she is who she is; like so many of us it's hard to take the components apart and look at them separately.

So . . . I too had a CVS (because of grainy texture at back of her neck noticed on ultrasound.) It was overwhelming to learn about this, back then, hardly discussed genetic blip. But I can honestly say I never seriously considered ending the pregnancy, though I would have with Downs. I have never regretted that decision.

All children have their challenges; I wouldn't change my daughter for a more conventional child for, as they say, all the tea in china.

I hope your friend is encouraged and supported by the responses she receives to your kind query.

K.