Help Addie find a cure for MED13L

After nine long years this September, we learned of Adeline's MED13L diagnosis.

In 2013, Adeline was born at home, a full-term pregancy; she greeted us with curious and wide, kind eyes. Over the coming months, she grew on her own chart--slow and steady, tiny and fierce. She would learn to crawl after twelve months, and begin to walk after two years, not without some injuries from imbalance. Having not produced more language than "mama, dada, milk, hot," we learned some sign language as she began early intervention services.

Soon after we would experience seizure episodes and receive a diganosis for complex partial seizure disorder. Because of hypotonia, global growth delays, and seizure activity, we were simply told she had Cerebral Palsy and were referred to a host of specialists to understand, investigate and treat her various symptoms. We visited two neurologists, an endocrinologist, two geneticists, an ophthalmologist, two ENTs, a developmental pediatrician, and two orthopedists. Her experience? She would wear AFO braces at night for years with SMO braces or slip in orthotics during the day. At age six, she had ear tubes inserted, which she confirmed from her bed the same evening "mama, I hear better," a long sentence structure for her! Over the years, Addie has endured many unsuccessful blood draws, MRIs and routine EEGs. Her treatment has included countless PT, OT, and Speech sessions.

Finally, after years and layers of visits, insurance policy changes, blood panels and second opinions, it was medical genetics specialist Dr. Hajianpour of Albany Medical Center that would have a name for our daughter's experience.

Adeline has, thankfully, received incredible support since infancy. She continues to work hard through her severe speech delay with use of a speech device, improving incontinence, and the care of compassionate teachers and providers.

In true first-born style, she enjoys being the leader wherever she goes—it’s hard to miss her powerful stride. She is inseparable from her younger sister, Tenley, adores her husky Cora, and remembers her Labrador Brody and hamster Frankie fondly. She exudes sunshine to all who love her, which is no surprise as her favorite color is yellow, the single color she can consistently identify and always chooses.

While Adeline's trajectory and potential is unclear, we are grateful for the work of the MED13L Foundation to provide a community for our families, conduct and share research, and work toward a cure for our sweet Adeline and all children affected by this rare genetic mutation.