I usually use this blog for pictures, pictures, pictures. Oh, and a few travel updates here and there considering the awesome place we are currently living.
Today I want to put a request out there for all of my blogger friends. Our youngest daughter, Cambria, as many of you know has Trisomy X and Hypotonia. Here whole story is on my Trisomy X page. I get emails constantly from parents who have girls with this disorder. My blog is one of the highest sites when googling ‘Trisomy X’. Sadly, there isn’t a lot of information on the disorder.
Cam is 25 months old and does not walk or talk. She has no visible abnormalities or significant mental delays. Every test we have done out here has come out normal. But we feel frustrated because we don’t know what additionally is wrong with her. Several weeks ago I put a message out on Facebook requesting a recommendation for a pediatric geneticist/ neurologist. Through a friend we found Dr. Gerald Raymond at Kennedy Krieger. We were also referred to Dr. Samango-Sprouse in D.C. who is well-trained in X chromosomal disorders.
We are currently living in Germany but the U.S. Navy is paying for us to fly to the States to visit these doctors. We are so lucky! Thank you Navy! SO… please send thoughts, prayers, whatever out here so that we can finally get a complete diagnosis for Cambria. We will still continue with the occupational and physical therapy that she is currently doing regardless of the outcome. But at least we will know if there is something additionally that we can do for her.
Feel free to post if you are having similar worries or concerns about your child. There is only so many searches you can do on the internet. Personal stories are the best.
So from Germany, thank you for your encouragement, we will need it next week! I will post any news we have. More than likely the doctor will do repeat karyotypes and an snp array, which will take time to complete.
Oh, and here is the sweet little girl who needs the prayers!
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.
Trisomy X Forum
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.