Help us earn our way to the 2019 AXYS Family Conference to learn more about Trisomy X

In the first trimester of my pregnancy with Goldie, I found out via NIPT (Non-invasive prenatal testing, a simple blood test that analyzes fetal DNA in the mother’s blood) that I was carrying a girl who was predicted to have the genetic disorder Trisomy X, a sex chromosome aneuploidy wherein which all cells contain three X chromosomes rather than the usual two.

It affects 1 in 1000 girls and can cause a wide array of symptoms, from subtle ones like speech delay, learning disabilities, mood disorders and hypotonia, to more serious ones: seizures, ovarian failure, kidney and heart defects. We had never heard of such a condition and I was devastated, despite the fact that it wasn’t a fatal or even necessarily serious diagnosis. I shed a lot of tears and felt a lot of anguish about the unknown and about my daughter’s future struggles... would she be able to communicate? Attend school? Make friends? Live independently?

We opted to get confirmation via amniocentesis, which did in fact verify the Trisomy X, and oddly put me more at ease, and in the meantime began to learn more about the condition. AXYS, the Association for X and Y Chromosome Variations, has been an incredible wealth of information and lead us to learn about a research opportunity for our daughter, to follow the natural history and neurodevelopment of prenatally-diagnosed children with sex chromosome trisomies. After Goldie’s birth, we were accepted into the study and in May 2018, when she was nine weeks old, we took our first trip to Denver, to visit the University of Colorado and Childrens Hospital. We've since been back twice, most recently just last month!

Her visits include a lot of questionnaires, a couple of rounds in the Pea Pod for body composition testing, tons of developmental tests with a number of specialists, and, of course, many smiles for everyone. We are so pleased to be making a contribution to the future understanding of her condition, and also having the world’s best specialists checking her out so thoroughly for the next several years!

So... why am I sharing all this? Because I want to attend the 2019 AXYS Family Conference in Atlanta, GA from June 28 - 30th with Goldie.

This conference provides an opportunity for me to hear up to date information from medical professionals and leading researchers on x & y variations like Goldie's, as well as meet other families in the x & y community from across the globe (for the first time!)

Once I reach my fundraising goal, AXYS will waive my registration fee and cover my hotel costs. All donations go directly to AXYS, which is a registered 501(c)(3) charity. If you are able, I humbly ask that you consider supporting Goldie and I by making a donation so I can attend this amazing event.

Thank you, from the bottom of our hearts!

Amanda & Goldie van Horn