Our daughter, Aurora, takes her first steps at age 4 1/2
Our 4 1/2yr old daughter has an extremely rare genetic disorder that is only diagnosed in 160 people WORLDWIDE called DDX3X Syndrome. It took years of testing and researching before she finally had a complex test called Whole Exome Sequencing which looks for extra chromosomes, deletions in chromosomes, and mutations in chromosomes(this last part is what standard genetic testing cannot do). We found out when she was 3 1/2 that she has a mutation in the DDX3X gene found in the X chromosome. At the time, less than 50 people in the world had this diagnosis. This mutation was only discovered 3yrs ago and is very hard to detect. It causes many issues including altered brain development, intellectual disability, seizures, low muscle tone, loose joints, movement issues, impaired vision, impaired hearing, unusually happy demeanor, speech limitation(almost half of the girls including our daughter are completely nonverbal while the rest have limited speech), digestive issues, and many other problems. Knowledge about the disorder and our kids’ future is very sparse since it’s so rare. Because not much is known, treatment and therapies for these kids are often a challenge because they don’t “follow the rules”. We were told by previous specialists that Aurora would likely never walk.
Well today Aurora took her FIRST STEPS! I’m struggling to hold back the tears just typing this.
We’ve been really sad the past few weeks ever since Aurora’s PTA, who does 90% of her physical therapy, told us that her family is moving away to Virginia. It’s a wonderful opportunity for them, but it’s still hard to say goodbye to the therapist who’s put in hundreds of hours working with our daughter over the last few years. Aurora has made amazing progress with her Ms. Jeni and the next stage without her seemed scary. Jeni’s expressed her own sadness in not being here when Aurora eventually walks(because she’s always believed that she would even back when Aurora couldn’t sit in a chair at age 2).
Well, ever since Jeni announced her move Aurora has turned up her effort several notches in physical therapy. We’ve left the past few sessions in amazement but we still weren’t prepared for today! Aurora wanted to make sure that she took her steps not only before Jeni moves, but towards Jeni! We have just two more sessions with Jeni but I can see now that we don’t need to be scared because she built a strong foundation that will last.
21 viewsDec 30, 2017
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