Elaina is an incredibly happy kid. She loves music, dancing and everyone around her! She loves snuggles with her doggies and hugs with her baby dolls.

We noticed a delay in development around 4-6 months old and her crossing eyes. Our pediatrician referred us to our local 0-3 program where Elaina was evaluated and started receiving therapies. We also started seeing a Geneticist at Wake Forest University who ran all the known genetic tests. After all of those were normal, we were referred to Duke University’s Undiagnosed Disorders and Diseases study where we underwent whole genome sequencing. This is when we found the mutation in her Grin2a gene.

Elaina had a slow development of motor skills, sitting, crawling, walking all came but at very late ages. Sat at age 1, crawled at age 2 and walked at age 4. Fine motor is also very delayed. Elaina is mostly nonverbal at age 11 but has a few words. Elaina struggles the most with communication. She is starting to know what she wants but has very few ways to communicate that to us. She also struggles with fine motor and has not yet developed a “point” with her index finger which makes it difficult to use any type of device for communication.

Elaina is an infectiously happy kid and is genuinely happy most of the time. Her energetic greetings bring a smile to everyone’s face that encounter her and her pure excitement over even the mention of a loved one’s name coming to visit fill us with joy. Elaina has a younger brother and sister who love her and are always trying to help her with tasks she struggles with. Navigating Elaina’s disability is not always easy, in fact at times it is very difficult, and I know it will continue to be. However, watching her discover new abilities and learn new tasks (even the simple ones such as getting her own milk cup out of the refrigerator and closing the door!!) has helped us to continue advocating and pushing to get what she needs to continue gaining skills. She met milestones that some doctors (ridiculously) said she would never meet and as we have watched her development over the years, we know she will keep learning and meeting goals!

When Elaina was diagnosed in 2015, we felt like we were the only family out there with this diagnosis. Now that we have found this community and organization we are thrilled! Take part in the community and get to know other families going through the same thing, even if it is just your local family support network! Keep going and don’t give up, progress may be slow, but it will come! We were told that she would never walk or talk, but we have watched Elaina learn and meet milestones over the past 11 years and it is amazing how far she has come!