When Natalya was just eight months old, a neurologist looked us squarely in the eyes and said without hesitation, “We don’t yet know what your daughter suffers from, but she won’t walk until she is at least two and she won’t go to college. I’m very sorry and would love it if you could march into my office one day and prove me wrong, waiving her diploma at me.”
Through rigorous daily physical therapy and early intervention, shortly after her diagnosis of Kleefstra Syndrome through exome sequencing, Natalya took her first independent steps at 18 months in spite of her low muscle tone, a symptom of KS.
Today, Natalya, or “mei mei” (little sister in Chinese), as her older sister Angelika affectionately calls her, is growing up in Shanghai where she was born. She speaks to us through her eyes, her smile and some sign language, as she has limited communication through expressive speech. Her condition has significantly changed our lives forever as we find ourselves on a new journey unlike any other we have experienced in our twelve years of living abroad. In turn, we have dedicated our lives to finding and funding a drug treatment to reverse the ongoing cognitive damage caused by the faulty EHMT1 gene and ensure that Natalya and other children afflicted with KS graduate from college.
Our family would be humbled by your donation of any amount to our cause.