Ada Mae’s Journey

As we experienced the magic of pregnancy, our daughter’s birth, and the first year of her life, we fell in love with our unique and beautiful girl—Ada Mae. As Ada approached her first birthday, she was a joyful babe who loved music, giggles, swimming, reading, and jewelry. She also began having many health issues and hit a number of developmental plateaus. As Ada blossomed at her own pace, we adored her playful personality, sweet constant cuddles, and silly sense of humor, while we struggled with her lack of verbal communication, lack of sleep, debilitating ear infections, gastrointestinal issues, and hypotonia (a state of low muscle tone).

During Ada’s first five years of life, we were living a mystery. We loved our daughter whole-heartedly and took joy in the beautiful moments of her early life, but without any diagnosis we felt helpless and scared and it seemed we were failing our daughter, unable to give her the care she needed. Every few months we went to a new specialist or for a different test or procedure to no avail, and had to rely on our parental instincts as well as trial and error to find therapies and services that seemed to resonate with Ada. Eventually, one of Ada’s doctors gave her a diagnosis of Pervasive Developmental Disorder – Not Otherwise Specified (PDD-NOS), but the recommended Applied Behavior Analysis therapies didn’t seem to fit Ada’s learning style. Ada learned best when surrounded by peers in play, observing, exploring, using repetition, and through lots and lots of music.

At age four, Ada’s language, cognitive, and gross motor abilities suddenly burst, she gained over 150 words, she was pushing her sister in a stroller, running up and down the street, making jewelry, painting a lot, and wonderfully social. And then six months later, even more suddenly, Ada experienced a completely devastating regression in which she lost almost all of the skills she had worked so incredibly hard to achieve. She completely lost her personality and cognitive abilities, she completely stopped talking, she went from smiling and laughing all the time to crying all day. She stopped making eye contact, lost her fine motor coordination (especially in her hands) and gross motor coordination, and lost strength in her legs and core. She could barely sit up or stand; her muscle strength and control was gone. It was hard for us to even breathe during that time.

Due to Ada’s regression, we found ourselves back at Children’s Hospital, doing (in some cases repeating) every test her doctors could think of to figure out why we were losing our baby. Finally, her neurologist suggested Whole Exome Sequencing. Despite the fact that the test cost several thousand dollars (which our insurance company would not commit to reimbursing), we took the plunge. When the results came back, Ada’s neurologist called us personally and informed us of the deletion of a single base pair in one copy of Ada’s SHANK3 gene. Ada had a diagnosis: Phelan-McDermid syndrome.

So, five and a half years into Ada’s life journey (January 2014) we finally had a basis to research the what, why, and how of Ada’s body. Of course, we had lived through her struggles, but now we had “search terms” and we soon discovered several articles including the Phelan-McDermid syndrome phenotyping articles from the Seaver Autism Center and others. For Ada’s entire life to this point we would read the characteristics of this or that disorder and, although a subset of the symptoms occasionally matched what we observed in Ada, we always came away feeling like it wasn’t really a match. By contrast, the validation of our reality that we experienced when we started to read about Phelan-McDermid syndrome was incredibly empowering, helping us to feel less isolated while giving us a clear understanding of appropriate ongoing expectations and allowing us to begin to advocate effectively on Ada’s behalf. Today, as Ada continues to heal and gain functioning slowly but surely, we now make it a point to appreciate the beauty in every moment and to be thankful for the joyful time our family spends together.

While there are no known cures for Phelan-McDermid syndrome, we are very grateful that Ada has the opportunity to participate in clinical research at the Seaver Autism Center. We live in Pittsburgh, so we travel with Ada every two to four weeks to New York City to visit her “friends” who take such amazing care of her. As Ada courageously handles all the testing with grace, the insulin-like growth factor-1 (IGF-1) clinical trial continues to give us hope that Ada will have a chance to live to her fullest potential.

We’ve started a foundation for Ada called World of Mae. In the Fall of 2014, we held our first successful 5K event to spread awareness in our local community and to raise money for Ada’s medical expenses as well as adaptations to our house. Our goal is to create inclusive events where individuals of all abilities and disabilities are celebrated and honored in a festive setting while being sensitive and respectful to ensure that everyone can participate, have fun, and PLAY! We are committed to making Ada’s life full of what is meaningful to her: music, water, horses, books, and loving relationships (to name a few).

Last summer Jon (Ada’s Dad) bought a ukulele to learn how to play for Ada. Now every night when he gets home from work, he and Ada have music time together, then we all join in as a family. She has been regaining her fine motor skills and loves to “practice” by strumming the guitar and ukulele; we keep the house filled with instruments, and she strums quite a bit throughout the day while jumping and smiling!

While Ada’s future is filled with unknowns, she has taught us that the ultimate accomplishment is the pure joy and love we feel being connected to Ada’s spirit. As we embrace who Ada is, we are allowing her unique perspective to influence and illuminate our own possibilities in this life. As Ada continues to find her own version of joy, we will always stay right beside her on this unpredictable path as she teaches us the freedoms of her reality, what true bravery looks like, what genuine patience feels like, and what pure love is.

— Katie and Jon Grashow