Trisomy X

Here is a current update on Cambria:
Trisomy X

This is a page dedicated to the disorder Trisomy X, or Triple X Syndrome. Our daughter Cambria was born with Trisomy X in 2007. Below is her story. Scroll down for links and resources that we as parents have found helpful. Please contact us if you would like to chat!

Micah Cummings

Cambria’s Story

Our daughter, Cambria Arden Cummings, was born December 3, 2007. She was born in Newport, Rhode Island. (One of our several homes due to military moves!) She was diagnosed with Trisomy X and Hypotonia at age 7months in Stuttgart, Germany. She is the sweetest baby and such a joy to be around. Everyone around her praises how content and easy going she is. We love her dearly and can’t imagine life without our daughter.

Cambria as a newborn rarely cried, was extremely mellow, and was the easiest baby in the world. She slept through the night right away. Due to a low birth weight, she had to be woken in the night for feedings. Her eating steadily increased, and she had no problems during infancy. She nursed for one year, and began eating supplemental baby food and table food at about 5 months.

We first noticed Cambria was developmentally delayed when she was about 5 months old. She didn’t clap, or play with toys, and wasn’t very expressive like most babies. She responded to her immediate family and was a very happy baby. But she didn’t laugh much, or put toys in her mouth. She never explored with her hands unless helped by someone. She began sitting with the help of a Bumbo chair at age 6 months.

Cambria is now 24 months old. She does not walk, talk, or stand. She is learning to sign and feed herself. She loves to imitate animal sounds. She has physical therapy twice a week and occupational therapy once a week. She is slowly getting stronger. We have had her seen by 4 different specialists in Stuttgart. So far, all the testing has come back normal. But we are worried that there is something wrong other than the Trisomy X and Hypotonia. Our next visit will be in February at Kennedy Kreiger in Baltimore. We are flying out from Germany to have Cambria seen by Dr. Jerry Raymond. After weeks of searching, we feel like he is the best pediatric neurologist/ geneticist doctor that she can see. We hope to run all the necessary tests and finally figure out if there is anything else wrong.

Cambria is a beautiful and special baby. We feel that God gave her to us knowing that she would change our lives in a positive way. Everyone who is around her notes there is something special in our little girl. We hope that there will be more insight in the future to the disorder. It is so important to have support and advice from others who have dealt with similar issues. Our Blog has generated many great responses from several Triple X girls, and their parents. Our hope is that the girls will be diagnosed early on, to avoid misconceptions and confusion later in life.

Below is our contact information. Please free to contact us any time!
Email: micahcummings@cox.net

Warm Regards,
The Cummings Family
Micah, PJ, Caden, Adelaide, and Cambria

Trisomy X Support Group
Cambria’s Story
KS & A Support Group
Hip Helpers
Support shorts recommended by our therapist and Developmental Pediatrician.
Genetics Reference Page
Here are the two genetic specialists that we were referred to by several Trisomy X parents, and also by specialists in the field:
Dr. Gerald Raymond at Kennedy Krieger Institute in Baltimore
Dr. Raymond is a pediatric neurologist and geneticist and is known as one of the leading doctors in this field. We taking Cambria to see him on February 22, 2010.
Dr. Carole Samango-Sprouse in Washington D.C.
Dr. Samango-Sprouse specializes in both Autism and Sex Chromosome Variation disorders. She does neurodevelopmental assessments of children with complex medical conditions. She was referred to us by another Trisomy X parent. We are visiting her on February 19, 2010.

Here is an update on my little Cambria for those of you who have daughter’s with Trisomy X. Cambria is 2 and will be 3 in December. She is not yet walking or talking but is making progress on many other things. She sees a physical therapist twice a week. She can walk across furniture and is much better with standing now. The other day I was in the bathroom and a little head popped around the corner. Cam had crawled up an entire flight of stairs unassisted. I was thrilled!

We still have her in Occupational Therapy as well as Speech Therapy twice a week. This will end when she turns three. We will then have her begin a special needs class at RB school where she will have therapists in the classroom. This was recommended by all of our team. She will hopefully have more motivation to walk when she is around other children everyday.

Cambria has 2 Pediatric Specialists that we see in Germany. We are going this week to visit a Neurologist and PT to get a new plan for therapy. We are looking forward to a year of progress from Cambria. I know that in no time she will be walking and running around with her big brother and sister!

Best of luck to those families with newly diagnosed daughters. Please feel free to email me anytime.

Regards,
Micah
Cambria’s Mom