Seth
46, XY, -16, +del (16) t (16;20) (p13.3;q11.23) Deletion
Seth was sent home from the hospital 2 days after birth, but wasn't exhibiting any interest in feeding. After 6 weeks of almost daily visits to our family pediatrician, Seth was admitted to Riley Children's Hospital in Indianapolis, IN as "failure to thrive." We stayed 2 weeks and after many tests, including chromosomal testing, we were sent home with an Ng tube since Seth wasn't sucking or swallowing.
About a month later we received the above diagnosis and were informed by a genetic counselor that Seth would probably be a vegetable and would not be capable of interacting with our family. We immediately enrolled Seth in our state's early intervention program and started OT, PT, and Speech Therapy.
Seth is now 6 and a wonderful, loving little boy. He is mentally retarded to a degree, but sometimes seems so bright that it is difficult to really know what he is capable of. He is terribly motivated and works hard at any task he is assigned. He was beginning to walk with minimal assist, but was recently diagnosed with a stress fracture of his left foot and is back to square one. He loves to be on the go and attends all of his older brother's baseball, football, and basketball games.
We have recently had him evaluated by a Neuropsychologist. We feel that Seth has some autistic-like tendencies - lots of self-stimulation movements - and are hoping to gain more insight into how Seth processes information and learns after we meet with the doctor. He loves puzzles and loves to stack things - blocks, books, chalk, cans, etc-anything that is stackable! We use Mayer/Johnson pictures to aid communication and encourage vocalizations (which consist mostly of growls and grumbles). Seth also uses an AlphaTalker successfully and has recently been evaluated by an augmentative communication specialist who feels Seth is highly capable of a more sophisticated device and has recommended a DynoMyte.
We would love to correspond with other families who have children similar to Seth and are always looking for more information on partial monosomy 16, partial trisomy 20.