Name and age: William age 13 years 8 months
Diagnosis:  Chromosome 17q21.31, deletion region is 533 kilobases in size and includes approx 4 known genes (CRHR1, IMP5, MAPT and STH)

William was born on July 21, 1994, 1 week over his due date, weighing 7lbs 4ozs.  Very long labor and hard delivery.  William is the 3rd of 4 children, was also the largest of the 4 at birth.  He had a hard time holding up his head, crawled late, took his first steps at 18 months and did not speak until he was 4 years old.  Once he started walking he tripped over his own feet all the time and also ran into
things without trying to stop.  We started teaching him sign language then the speech came. Very small and skinny child up until puberty when he started growing in leaps and bounds.  He also got his teeth late, right now has a problem with his teeth because he would swallow the toothpaste instead of spitting it out.  He is on
Depaokote for seizures, he had his first one the day after his first birthday and continued to have more within the next few months, they are under control now but still on medicine.  After having a MRI they noticed white matter which is why they will not take him off his medicine.  He loves to eat constantly and especially loves chocolate and ice cream.

He is a very happy, friendly child he will talk to anybody, sometimes too friendly, thinks everyone is his friend.  He does ride a bike, it took along time to teach him but he finally conquered it, he also rides a skate board and scooter too.  He is an outdoor child loves fishing with his dad and older brother, does not watch much TV.
William had speech, OT and PT in early intervention right through to 6th grade where it is limited now, not by my choice.  Not due to him not needing it but because the system does not do much in middle school.  He is in 8th grade now. Very low motor tone in hands, still has a hard time writing, he is left handed.

Some of his features are long fingers, long feet, long face, somewhat of a pear shaped nose with a large nasal tip, narrowness of his eyes.  Ears are normal but small (lots of ear infections as a child, had tubes too). He also has a somewhat square chin.  You will sometimes find patches of exzema on him.  Some of this was observed by the National Birth Defect Center where William had his testing.

He has a great memory for things that he enjoys and remembers peoples names too but as for academics not very good at all. He tries so hard and is very proud of what he does, he is well below grade level.  He is very involved with Special Olympics doing bowling, track, basketball and will soon be doing baseball too.  As a young child he joined the town baseball team and played T-ball with them and did well but when it came to regular baseball without the T, he had a hard time.

It is very hard to remember all of his milestones but I do know they were all late. He was a pleasure as a child he always slept good and to this day still does, he needs about 8 to 10 hours of sleep a night to have a good functioning day.  As he is getting older he is much more of a challenge, it just doesn’t get easier but gets much harder.  I’m sure there is much more to tell but right now that is all I can think of.
Submitted by:  Barbara (mom of William)