Why a blog?

In the fall of 2015, on the heels of receiving Emelyn’s DDX3X diagnosis, there were approximately 30 girls diagnosed with DDX3X syndrome in the world. Our family was handed this rarest of rare disease diagnoses and directed to the only available resource on the condition: a peer-reviewed article from The American Journal of Human Genetics. Unlike other conditions like Down syndrome or Rett syndrome, there were no experts to call, no studies to enroll in, and no website to visit. For those of you who know me, you know I’m an information gatherer, I’m a problem solver, and I’m a writer. In the days following our diagnosis day on September 15, 2015, when information was practically nonexistent, I defaulted to my other two tendencies and began this blog. Using my words to solve the information void our family was experiencing was both personal and a way to help others. I didn’t realize it at the time, but this blog served as a form of therapy for me as we navigated this new diagnosis. As I read the words on this blog years after they were written, I’m instantly transported back to the early days of our family’s journey with DDX3X syndrome. Those first several years, when Emelyn’s development was painfully slow, I thought I needed information, but what I really needed was hope. This blog gave me hope. It gave our friends and family hope. What I didn’t realize until years later is, it also allowed me to give other families hope. 

As our DDX3X community has grown to well over 500 known cases, so too have the available resources. I am grateful I put these words out for me and for the world, but I’m more grateful that the need for this blog to be the source of information on the world wide web has greatly diminished over time. Since I started this blog in 2015, the DDX3X community has made incredible strides. This blog is no longer the place where newly diagnosed families go to seek information because there is ddx3x.org and a private Facebook group where families can ask questions of other families raising a child with DDX3X syndrome. There is no longer one paper on DDX3X syndrome, there are more than 100. There are research studies to enroll in and doctors to call who understand this diagnosis—though I still believe my fellow DDX3X moms and dads are the real experts! While I’ve finished writing for this blog, much to the sadness of my friends and family who love hearing about Emelyn’s progress, I am leaving it here as a statue to hope, love, and giggles. It is my sincere hope that my words, written when there were equal parts light and darkness along the path, will bring you the “information,” i.e., hope, you need on your family’s DDX3X journey. 

I have not stopped writing for Emelyn or for DDX3X. Like all things in life, it’s simply adapted over time. I have found that pouring my heart out in words before any important meeting has helped us articulate our family’s hopes, desires, and dreams for Emelyn’s future to her team of educators, therapists, and doctors. These patient and caring professionals have come to appreciate my loving, aspirational dissertations because they help us make the most out of IEP meetings, therapy plans, and doctors appointments—ensuring we all move as one in the same direction with purpose. I also continue to write for the DDX3X community that has given our family so much. The ddx3x.org website is filled with my words and keystrokes (and even a few photos of Emelyn). It is now the place new families go for the most up to date information on DDX3X syndrome. In 2019, I used my words for what has become life-changing for my DDX3X community by using my skills as a grant writer to help the DDX3X Foundation secure a $450,000 grant from the Chan Zuckerberg Initiative. In 2020, I created and presented a poster at the NORD Rare Diseases and Orphan Products Breakthrough Summit to help educate researchers, public health experts, patient advocates, and industry leaders on DDX3X syndrome. Because our community grows everyday, I am fortunate to work with some of the most dedicated and tenacious moms and dads in the world to continue to use my words to help others. 

A note about “information” on this blog... We live in a world full of “misinformation” and it is my goal for this blog to be more of a historical journal of the journey we’ve been on, not a source of reliable scientific and/or medical information. Since some of my early writing, we’ve learned so much more about DDX3X syndrome. For example, when Emelyn was diagnosed, we were told DDX3X syndrome only affects females. The doctors told us that males couldn’t survive past conception. Boy were they wrong (pun intended). There are now a handful of boys in our DDX3X community with DDX3X syndrome. The beauty of science is that we are learning more everyday. So please don’t think of this blog as a work of science, but instead as a work of art—a sometimes messy, sometimes elegant canvas containing my intimate thoughts, understandings, and internal conversations during those early days.

Thank you for visiting. May your journey be blessed with hope, love, and giggles. 

Same bridge, same beautiful smile—five years later.