Zoey was born in February, 2012. She was a month early and spent a week in the NICU to help her coordinate eating, sucking, and breathing. Zoey had several physical anomalies that concerned the doctors: a bulbous forehead, a slightly deformed finger, a minor accessory digit on another finger, unusual skin colorations, and a sacrum dimple. We met with the geneticist who indicated that she had no obvious syndrome, but he wanted to do a chromosome test to rule out other syndromes. The geneticist called us two months later and asked us to come in for the results. She seemed normal to us, so we didn’t rush to make an appointment. A month later we went on vacation and when we came back, we noticed that her eyes were moving in a strange manner, which turned out to be nystagmus. We then met with the geneticist and found out about her PKS.
Zoey seems to have a somewhat mild version of the syndrome. Other than the physical elements mentioned above, she has some oral defensiveness, self-soothing/stimulating movements, and developmental delays, but no major problems yet. She sat up alone for the first time at 9 months, ate baby food for the first time at 12 months, started crawling at 13 months, and pulled to a stand at 15 months. Zoey is now about 20 months old. She doesn't stand alone, walk, or talk yet, but we have every reason to expect that she will—eventually. She loves soft blankets, books, and Baby Einstein videos. We see her learning and growing, but changes come slowly. We don’t know what to expect or when to expect it. We have learned to pay attention to the details and to celebrate positive changes, no matter how small. She has the most wonderful smile that lights up a room. That is a gift we get every day.