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. 

Worry

At our house, we spend a lot of time focusing on the here and now. While the here and now is sometimes stressful and chaotic, it’s often filled with a sense of happiness. However, I’d be a liar if I told you I don’t worry about Emelyn’s future. While I don’t have a crystal ball, her diagnosis gives us a glimpse into her future. Emelyn will likely face challenges with communication as many girls with DDX3X are non-verbal or have very limited spoken language. Due to Emelyn’s low muscle tone, she’ll likely struggle with both fine and gross motor skills making everyday tasks like climbing stairs or preparing meals cumbersome. We work every day with therapies at school, in the clinic, and at home, to help Emelyn overcome these challenges, yet the worry is still there.

Last week, I had the opportunity to meet Beth and her older sister, Melissa. They also gave me a glimpse into Emelyn’s future. Beth, now a grown woman, was about Emelyn’s age when her parents received her developmentally delayed diagnosis. While Beth’s mother served as her advocate for much of her childhood and into adulthood, it was Beth’s sister, Melissa, who picked up the torch to keep Beth’s best interests front and center as their parents aged. As Melissa and I spoke for the first time, we brought each other to tears. I admitted how I once thought Emelyn would be a burden to my oldest daughter, now and into the future, but how I’d really grown to know that wasn’t true. I told Melissa her relationship with Beth gave me so much hope and joy for my own daughters. Melissa told me that Aubrey will not only want to take care of her sister, but she’ll be in a better place to empathize and care for others for the rest of her life. “She’s going to be an amazing person because of her sister,” she told me.  

Aubrey was super excited to get footie pajamas, but
even more excited when her sister got a matching pair.

Aubrey’s not blind to Emelyn’s developmental delays. In fact, when Emelyn was born, so were several other babies in and around our family. Those babies, now approaching three years old, have been walking and talking for nearly two years. We’ve always told Aubrey, and other children who ask, “All children are different and Emelyn is just on her own schedule.” It’s not a lie, but it’s not the whole truth either. I’ve always wondered, do we sit Aubrey down and have “the talk” with her about Emelyn? While we’ve always answered every one of Aubrey’s questions with as much detail as necessary for a six year old and tried to encourage her to share her thoughts and feelings about things that concern her, “the talk” always seemed unnecessary, at least right now. I was grateful to Melissa for reassuring me that I don’t have to have “the talk” with Aubrey. She told me Aubrey will learn from Patrick and I how to stick-up for her sister. And one day, when the time is right, “the talk” will just naturally happen. Until then, we’ll let Aubrey observe, ask questions, and continue to develop a profound love for her sister.

Most younger siblings look up to their
older siblings...in our house, it's Aubrey who
looks up to Emelyn.

Worry…it’s a pointless activity all parents do. Before Emelyn, I spent far too much time worrying (and complaining) about the most ridiculous things, and I’m not saying I don’t do that anyone, but I can promise you it’s a lot less frequent. Being a special needs parent brings a different perspective to life and for that, I’m grateful. I’m grateful this different perspective will be a part of Aubrey too. Meeting people like Melissa and Beth is a reminder of the love and support that will always fill Emelyn’s life. And because of that, I have no reason to worry.

At least she didn't say bah humbug to school...

Who would have thought it, but Emelyn may have enjoyed school more than she enjoyed Christmas. Leading up to Christmas, Emelyn seemed into the holidays. She enjoyed the Advent services at church on Sundays, she listened to Christmas music with interest, and she even cracked up every time we asked her if she wanted to sing Jingle Bells. You would have thought celebrating Christmas with family and friends would have been fun too, right? What two year old doesn’t love presents, lots of cousins to play with, and unseasonably warm December days? Not Emelyn, that’s who! It was all just a little too much for her. Even the wrapping paper and bows were met with tears. She was over it before Christmas day even arrived. While Aubrey opened presents (typically everyone’s presents for them), Emelyn attempted to crawl out of the room, sometimes before the first present was even opened. And when we attempted to return her to the group, we were met with a very cranky little two year old. By the Monday following Christmas, she was back to her chipper self and while she had some new toys to play with, she still ventured to her old ones, as if to say, "I’m really not into the whole Christmas thing." I guess there’s always next year.

Emelyn with the giggles on Jan. 5, her first
day of preschool at East Salem Elementary School.

School, on the other hand, seems to be a winner in Emelyn’s book! She went from high-strung and cranky to laid-back and up-for-anything…in other words, back to her normal self. She got on the bus like a champ. The look on her face as she rode the chairlift in her stroller was priceless. And circle time, complete with story and singing, went well too. I was a little worried she might decide she could crawl away if she wasn’t interested, like she does at home when I pick a less than thrilling book or song. Luckily, we’re off to a good start. Thanks for all the love and excitement as Emelyn began her new journey this week. We’ll be sure to keep you posted as her journey continues.

Daddy showing Emelyn the bus on the first day.

The next great adventure

As 2015 comes to an end, so too does our Early Intervention services for Emelyn. And with the end of Early Intervention comes Emelyn’s next great adventure. On January 5, 2016, we send our 26 lb. two-year old off to East Salem Elementary School. Two days a week, she’ll be picked up by a bus in front of our house and taken off to Salem’s preschool special education program. While I wasn’t terribly sentimental about the change, another member of our family couldn’t seem to contain her emotions. Yes, Aubrey! When we casually mentioned Emelyn’s new adventure to Aubrey and she instantly became very sappy. At one point, in a high-pitched, shaky voice she declared, “I may actually cry tears of joy.” (She’s also quite concerned that Emelyn doesn’t have a book bag and school supplies. Emotional and practical, that girl.)

Emelyn and Aubrey visiting Santa in New Castle to
kick-off the Christmas season.

To Aubrey, going to school means Emelyn will learn to talk and walk. And to some extent, she’s right. While I don’t think Emelyn will be delivering messages to Aubrey’s East Salem friends, like Aubrey would like her to, I do have great hopes Emelyn will find her voice in preschool in 2016. It may not be spoken language, but maybe she’ll be able to find ways to “speak” to us using an alternative communications method. And between Emelyn’s curiosity about walking and the goals we put in her IEP (Individualized Education Program), walking independently in a gait trainer is a reasonable expectation this coming year for Emelyn.

For me, I’m also excited to have Emelyn around other children. Being at home this past year has given her the much needed one-on-one attention necessary to gain many new gross motor skills, not to mention some much needed weight. But now it’s time to work on her socialization skills too. While she always scores fairly high on the social/emotional developmental scales, she could definitely benefit from being around other children her age. 

2015 brought many exciting achievements for Emelyn. In the motor skill area, sitting independently without the fear she may topple over, manipulating objects with her hands in a much more meaningful way, transitioning from her belly to a sitting position, crawling on hands and knees/shins, pulling to stand, and even a little cruising on furniture were new for 2015. She’s also increased her receptive language skills, as well as, added a couple of inches of height and about six extra pounds of weight.  What will 2016 bring? While it’s hard to say exactly, we are very optimistic Emelyn’s next great adventure will bring more achievements for our curious little peanut in 2016. Merry Christmas and Happy New Year!

Our family musician

We’re not much of a musical family. Ask me the artist or name of a song and nine times out of ten, I’m going to get it wrong. My ability to carry a tune is equally as impressive. It’s looking like our most musical member of the family is going to be Emelyn. At a very early age we noticed her love of musical toys – you know the ones you banned from your house because they were loud and obnoxious – she loves those! And yes, after depriving Aubrey of them as a toddler, we basically have a full orchestra now – Fisher Price, VTech, LeapFrog – our inventory is vast. 

Emelyn with one of her favorite singing, light up toys
just before her 2nd birthday.

Where my ability to “name that tune” dramatically improves is in the genre of children’s songs. It’s sad, I know, but when Emelyn is downright inconsolable, all I have to do is start singing one of her favorites: Bingo, the Sesame Street theme song, Old McDonald, Itsy Bitsy Spider (bet you don’t know the second verse to Itsy Bitsy Spider), and so on. Yes, the little gal loves to be sung to and she doesn’t even care that my voice is far from in-tune.

When we discovered music therapy last year, we couldn’t help but give it a try. Offered through Easter Seals, the service coordinator for Emelyn’s Early Intervention services, it’s a small group therapy session with Emelyn’s peers. Some have developmental delays, but some do not. It’s very fast paced and surprisingly not chaotic. In the course of 45 minutes, they sing and play instruments to about ten songs. There are big drums and little drums, scarves and parachutes, tambourines and bells, wood blocks and triangles, and all the other fun, kid-friendly instruments you remember from elementary school. 

Emelyn drumming with her music buddies
at music therapy.

At first, Emelyn didn’t have the stamina to stay engaged through the entire class. A year ago, just sitting up for an hour at a time was exhausting, but adding singing, instruments, and other kids was more than she could handle. Recently, I had the chance to attend one of Emelyn’s music therapy sessions. It was exciting to see how far she’s come. She still does a lot of watching – she’s mesmerized by music therapist Hope’s guitar and she doesn’t quite know what to make of the other kids. But, she’s also occasionally using a mallet to hit the drum, shaking the bells during a song, or choosing between instruments when given the choice. She’s also going strong after the 45 minute class, which is impressive.

While it may not look all that impressive,
holding two objects, one in each hand, is a
relatively new skill for Emelyn.

Music therapy has lots of great benefits for kids like Emelyn. It can stimulate cognitive, behavioral, physical, emotional, and social skills. It can also help facilitate the development of communication skills, which is a top priority for Emelyn. Beyond the benefits, it’s been fun to give Emelyn an outlet for her love of music. Who knows, maybe she’ll be a musician someday…or at least be better at “name that tune” than her dear old mom.  

Emelyn has loved music therapist Hope's guitar from day one.