Trisomy X
Our daughter, Cambria was born December 3rd, 2007. She was diagnosed with Trisomy X, or Triple X Syndrome. We noticed that she was having developmental delays at about 5 months. Prior to that I had a normal pregnancy and birth. She was a very mellow newborn and hardly ever cried. She slept all the time! I had to wake her up to eat often at the beginning.
We moved when Cambria was about 6 months old to Germany. In between moves, we stayed at my parents house for 6 weeks in route to Germany. So there were a lot of changes for her to adapt to. When we finally got settled in Germany we noticed that she was developmentally delayed. I contacted an Occupational Therapist who worked for the military. They evaluated Cambria and recommended that she see a specialist. We then took her to a local children’s hospital. We had an MRI done on her in addition to extensive studies. The neurologist also did a chromosomal blood test. This was when we found out that she had Triple X Syndrome, also called 47,XXX.
We felt so many different things at that moment. We were relieved that it was nothing more serious, but scared about the unknown. After the diagnosis, physical therapy was recommended. We have been going to a physical therapist twice a week since then, as well as one appointment weekly with an occupational therapist. She is making progress every week it seems. But she still is delayed and has low muscle tone and is not yet walking.
Here are a few photos that I have taken of her. She is the sweetest baby and such a joy to be around. Everyone who meets her is constantly amazed at how little she cries. I have always been able to take her anywhere! She has travelled with me to New York, Boston, San Diego, and with our family all over Europe. We call her our Angel Baby. She lights up when she is around her big brother Caden who is 9, and her big sister Adelaide who is 3.
We had a hard time finding relevant information on Trisomy X when she was diagnosed. Since then we have acquired some more information and read a bit more on the internet. Despite the 1:1000 occurring rate of girls with Trisomy X, there seems to be little out there to comfort parents. Our hope is that other families will hear positive stories about Trisomy X girls like Cambria. We don’t know what the future holds for her, but are encouraged that with a loving, Christian background and solid family support, she will grow up doing everything a normal girl would do!
Below I have posted some links to resources we have found online.
Links and resources:
Genetics Home Reference
KS & A
Triple X Website
Triple X Syndrome Book from Amazon
Trisomy X Forum
Contact email:
sbelinsky@oas.org
Medline Plus- info on learning disorders
I will update as I find more valuable resources to share.
Best of luck to those of you who have daughters with Trisomy X!
Please contact me for more information or to chat about Trisomy X.
Email: micahcummings@cox.net
Regards,
Micah Cummings
5 Responses to “Trisomy X”
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Our daughter was born December 19, 2007 with Trisomy X. We knew of her condition before she was born. Like Cambria, she is not yet walking, but she is an absolute joy–a beautiful baby with a wonderful disposition. It has been hard to find information on Trisomy X and some of the information has been discouraging. But we are determined to do our best and enjoy every day with her. I just wanted you to know there are more of us out here–and some of the stories are positive. Your baby (and your family) is beautiful. Take Care.
Avery
[...] *For more information on Cambria’s story, please click on the link below. Trisomy X [...]
Hello,
I was ran across your website while planning my science class. This is a disorder that I am working with my students on being able to diagnose utilizing karyotypes. This is always their favorite because of the way it emphasises the beauty of the girls. I should mention I teach special needs students and they find this disorder almost a fairy tale. To have a disorder that will assist in your beauty. I can see from your other daughter that you have two beautiful girls. I recently discovered that my niece has dwarfism. It doesn’t matter what the difficulty anything out of the ordinary is terrifying to consider. Despite all of the fear and drama that accompanied our path, it has been a delight and my niece is the most beautiful 16 month old I can imagine. I know that you too will find growth and development in your daughter’s own time.
My prayers are with your little girl,
Jennifer
My daughter was accidently diagnosed while being tested for low blood platelets. There is no correlation between this syndrome and the blood issue, so don’t panic. Your daughter is beautiful and I notice her eyes are very similar to my daughters eyes (the lids).
I wish I knew my daughter had this syndrome earlier in life. I struggled knowing that something was “wrong” but never actually diagnosed…I was told she had Attention Deficit Disorder; a Language Processing Problem, but a normal IQ and oddly enough no “learning disabilities”. She struggles very much with the learning issues and had a rough time in school, but she is going to be attending community college and dreams of attending a school in New York to design shoes of all things!
You are enriching your daughter’s life and always fight for her. They say that this affects girls differently…I am very glad you know how to help her! Thank you for reading!
I’m 16 and found out I had trisomy X a couple of years ago. There was speculation of it before I was born but never any tests, I had a really rough patch where I found everything very difficult and it was then I was given many tests to get to the bottom of it. I was diagnosed with triple X syndrome and told there was no cure but I could always have help if needed. At school, I had a reader and a scribe to help me in classes I struggled in. I wish there were people I could talk to a lot more and meet other people with my syndrome because sometimes it is hard coping with it myself. The one thing that scares me the most is the fact I was told due to the syndrome I would probably never have any children. I have an appointment for when I am 17 though so I can find out if this is true or not. Feel free to get in touch, it would be fabulous to talk to someone. Sometimes I feel stupid and horrible but to think about it, with all the help I received at school I managed to pass all my standard grades and I am now studying childcare at college.
Thanks for reading what I had to say! good luck
Contact me with my email address if you would like to talk..
littlemissjaii@hotmail.co.uk