By Addison’s Family
Addie is a happy and energetic 3.5-year-old who loves swimming, riding her bike, and exploring new things.
She attends a developmental preschool and is adored by her teachers and peers. She LOVES school and thrives in the school setting. Although she faces challenges with expressive language, her AAC device has opened up a world of communication possibilities, and we continue to be amazed by her intelligence and cleverness. This past summer, she became a big sister and adores her baby brother. Every day, Addie teaches us about resilience, joy, and the beauty of living fully, no matter the challenges.
She’s a reminder that even in the face of adversity, there are unique ways to overcome and thrive.
We had a relatively uneventful pregnancy until 32 weeks when we were diagnosed with Intrauterine Growth Restriction (IUGR). This was during the COVID pandemic, so there was fear that this growth restriction was caused by me contracting COVID while working as a nurse during the pandemic. We were reassured when Addie was born within the normal weight range. However, Addie struggled to gain weight despite being placed on high-calorie formula.
By two months old, Addie was diagnosed with a dislocated hip and hip dysplasia, which led to months of wearing a Pavlik harness, a rhino brace, and eventually a spica cast. When Addie came out of the cast, she remained delayed in gross motor, so Occupational Therapy and Physical Therapy were started.
At one year, she was diagnosed with kidney reflux after multiple UTIs. Addie also had multiple rounds of ear tubes after failing hearing tests due to fluid in her ears. Because of the multiple medical issues and her small stature, we were advised to pursue genetic testing. Two rounds of testing came back negative, so a whole gene exome sequencing was completed.
In March 2022, at age 21 months, we finally received a diagnosis – CdLS with a mutation in the HDAC8 gene.
In the beginning, we struggled to find a place in our new world because she did not fit the characteristics of classical CdLS and was not keeping up with peers her age.
The fear of the unknown felt crushing.
What other medical issues would arise? What would adulthood look like for Addie? Would she be accepted at school? Would she have friends? The questions were endless. While most of these questions are still unknown, we have found peace by meeting Addie where she is.
As a friend once said to me, “Just like her growth chart, Addie is on her own learning curve,” and we have learned to celebrate her curve. Addie’s village is far and wide, and we couldn’t be more grateful to those who have come alongside us. She has a lot to overcome, but thanks to the diagnosis, she can get the help she needs. One characteristic trait of HDAC8 mutations is a happy disposition—that couldn’t be truer for Addie.
She continues to be *the* happiest little girl we know.
To other parents walking a similar path, our advice would be to never lose hope, even when the journey feels overwhelming. Trust your instincts and advocate for your child, even when the answers don’t come easily. It’s okay to feel uncertain, afraid, or whatever emotions you feel.
Every child is unique, and their progress, no matter how different it may seem, is worth celebrating.
Embrace the small victories and focus on what your child can do rather than what they struggle with. Surround yourself with a supportive network of doctors, therapists, and fellow parents who understand, and always remember that your child is more than their diagnosis.
Our daughter, Addie, has taught us that joy can coexist with difficulty and that love, patience, and perseverance can open up new possibilities.
Recent Comments