What’s in a name?

A question was asked on our Chicago trip, “Will our daughters’ genetic mutation get a name?” It’s a question I’ve wondered myself. DDX3X doesn’t exactly roll off the tongue. In fact, most people just know that Emelyn has a rare genetic disorder, and if they have a good memory they remember it’s on her X-chromosome and therefore only affects girls. There are very few who can spout off those four letters with that strange number somewhere in there. If you’re one of those people, don’t feel bad. I totally get it. And, to be honest, it’s more important to us that you know Emelyn, not her diagnosis. While DDX3X is certainly part of her, it does not define her.

The adorable Emelyn at around 18 months old. It would be several more months before the DDX3X mutation would be identified as a true diagnosis and another year before we would receive the diagnosis for Emelyn. 

So, back to the question, will Emelyn’s diagnosis get another name…maybe one you can actually remember? The chances are, no. And here’s the reasoning. Through modern technology, new genetic disorders are being discovered every year. And each of them can’t get its own name.
Names can be descriptive, such as polycystic renal disease or cystic fibrosis. Or names can come from the person who discovered it, such as Down Syndrome discovered by Dr. John Langdon Down in 1866. And sometimes, names can come from a person who had the disease, such as Lou Gehrig’s disease in the case of amyotrophic lateral sclerosis (ALS) or Christmas disease named after Stephen Christmas, a boy first observed with the disease.
Usefulness is the key factor when naming a disease, therefore DDX3X is likely the name that is the most useful. It tells you exactly what gene is affected. That’s not to say that DDX3X will always be the name, but for now, it doesn’t appear to be going anywhere.

Take a leap

It comes only once every 1,461 days – February 29 – leap day. It’s only appropriate then, on this rare and special day, to celebrate those who are also rare and special. On this leap day, we’ll celebrate Emelyn and the millions of other children, adults, and their families affected by a rare disease. Because DDX3X is so newly discovered, it’s hard to know exactly how rare it truly is. There are likely lots of young ladies out there with her same gene mutation who just haven’t been diagnosed yet. By leap day 2020, we may have a better grasp on the true number of affected females.

Like Emelyn’s rare diagnosis, 80% of rare diseases are genetic in origin and thus are present throughout a person’s life. Here are a few other interesting facts from Global Genes about rare diseases:

• There are approximately 7,000 different types of rare diseases and disorders, with more being discovered each day
• 30 million people in the United States are living with rare diseases; this equates to 1 in 10 Americans or 10% of the U.S. population
• If all of the people with rare diseases lived in one country, it would be the world’s third most populous country
• Approximately 50% of the people affected by rare diseases are children
• Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease

And until just this month, the last bullet point was true for DDX3X. Thanks to the hard work of some DDX3X parents, DDX3X now has a foundation and website: ddx3x.org. And, you can read Emelyn’s story, along with the stories of other little girls, on the site. I hope you’ll take a few minutes tomorrow, on World Rare Disease Day, to check out the website, learn more about DDX3X, and help raise awareness. 

Answers

Emelyn loves to swing. This picture was taken
in early September at Green Hill Park.

On September 16, 2015 we received a call from our genetic counselor at UVa. After several inconclusive tests, I had started telling people we probably wouldn’t learn anything from this latest round of testing. While the whole exome sequencing was the Cadillac of genetic testing, I was convinced we’d once again receive a report filled with gibberish and the words, ‘variant of unknown significance.” But not this time, instead we heard, “We’ve found your daughter’s diagnosis.” This is when the moment of panic set in, what is he about to say, will this be a good diagnosis day or a bad diagnosis day?

After nearly three years of uncertainty filled with the ups and downs of scary news followed by positive progress followed by more unknown, we finally had a tangible diagnosis. Emelyn has a DDX3X mutation on her X chromosome. It’s a condition that only effects females – talk about a girls only club. As I write this post, approximately three days after the call, I can say this diagnosis day was one of the better ones. We’ve developed quite an optimism about Emelyn and no matter what the coming months and years reveal, I can’t help but think our faith in God and Emelyn’s larger than life giggle won’t change that. Click here to learn more about Emelyn's diagnosis.