Timmy

Age: 11

Duplication: 46,XY, der(21)t(4;21)(p12;p13)

Lives in: Illinois, USA

Timmy was diagnosed with Trisomy 4p when he was a newborn.  His geneticist was very thorough and directed us to a pediatric doctor who specialized in special needs children.  Both of these doctors directed Timmy's care.  We were enrolled in a program called Early Intervention where they started providing Timmy with numerous therapies very early on, physical therapy, speech therapy, developmental therapy and occupational therapy.  If it were not for these wonderful therapists and doctors, Timmy would not be where he is today. 

He has had numerous surgeries that include a hypospadius repair, kidney ureter repair, tubes placed twice and adenoid removal.  Though he has grown out of a few, Timmy has numerous allergies (milk, eggs, soy, trees, grass, dogs, cats, and a few others).  As a baby he was on a special expensive formula we had to special order.  We had a swallow study done and found he was aspirating minute amounts of liquids so we thickened his formula and drinks.  He has had chronic constipation all his life.  Timmy was slow to sit up on his own, crawl and walk. He is non verbal but through the years had chosen a few sounds and words to say.  (He called me ra ra when he was a toddler, so cute!).

Now he has grown to understand much and uses some sign language to communicate as well as pictures.  His signs are unique to him because of his motor control issues.  He has sensory processing disorder and had a dual diagnosis of autism.  He can be repetitive with his signing and behaviors and is obsessed with certain objects such as lights, bells, colorful things and switches.  Timmy doesn't understand that it is unsafe to run off from me in public or into the street.  I help him with all of his activities of daily living and he is not fully potty trained.  He needs one on one assistance most of the time.  I have my home "Timmy proofed" using a gate to keep him out of the kitchen (his favorite place to be) and keyed locks on all bedroom and bathroom doors to keep him from making big messes.  Some of our biggest challenges are social appropriateness, behavior problems and safety.  I also worry about puberty, ugh! 

Timmy loves water play and going outside to see all the green scenery in the spring and summer time.  He is a musician at heart and loves to hum (his way of singing).  His favorite instrument is the piano and, of course, music class is his absolute favorite.  He loves to laugh and play rough.  He needs the sensory input so he will seek it out with hitting his head on my arm.  As a baby he would slide his forehead on the ground or any flat surface.  He likes tight squeezes and spinning, too. 

Even though some days we are both frustrated, we are truly blessed and happy.  I've learned so much from my son and I am proud to be his mom. I am also blessed to have found our Trisomy 4p group. I tell Timmy these are his Trisomy brothers and sisters.  He loves looking at all the pics.  Thank you for reading!