Daniel is a sweet, cuddly, affectionate and “clap-happy” little 3 year old who immediately puts a smile on the face of anyone who meets him (including little old ladies in the grocery store). He is full of so much joy and love. It isn’t just his smiley face with glasses and full head of blonde curly hair… He is pure JOY… plain and simple. He has an amazing sense of humor and a huge, infectious belly laugh that just makes everyone happy to be around him.
After a rough 1st year of life which included various hospital stays, surgery, extensive physical therapy, occupational therapy, speech/feeding therapy, and special education services, Daniel was diagnosed with KdVS (or 17q.21.31 Microdeletion Disorder as it was known at the time) exactly three days before his first birthday in July 2012. Like so many other KdVS parents, as soon as he got the diagnosis we searched online, googled, and found the C17 Facebook group, and then the KdVS group.
By the time we had our first geneticist appointment in October 2012 to discuss the “findings” of the testing, we informed the doctor that C17 had been named “Koolen-de Vries Syndrome”. Since it is so rare, we often find ourselves explaining KdVS to doctors, therapists, teachers, family, friends, and even random strangers.
Daniel’s main medical issues continue to be his respiratory issues. He used to aspirate liquids, but he passed the swallow test last year. Just as many other Kool Kids get sick, we are struggling to keep him healthy this school year. After his first 3 days of special ed preschool, he ended up intubated and on a ventilator in the PICU with a nasty rhinovirus and enterovirus . It was during that crazy week that we truly felt the love and support from the Facebook KdVS groups. Our extended KdVS family helped us through such a challenging time. We have grown to love so many of our Kool Kids. We were lucky enough to attend both the gatherings in Indiana in 2013 and Texas in 2014 and are definitely planning to go to North Carolina this summer.
Although he is still nonverbal, Daniel uses gestures and some signs to help us understand what he wants and needs. He has some approximations for words and a few sounds. He is beginning to use a Novachat (an Augmentative Alternative Communication device) at school and we will soon have it at home, as well. We tried to use an Ipad as an AAC, but he would frustrate trying to get to his “toddler jukebox” app to hear his music. He absolutely LOVES music! He often hums his all-time favorite tune “Twinkle, Twinkle Little Star” while he is playing by himself. He also claps appropriately when he anticipates the end of a familiar song. He used to attend weekly 1:1 Music Therapy and now just goes to a Music Together class on Saturdays. We have heard from other moms that some other Kool Kids actually sang before they could speak! We look forward to hearing Daniel’s voice through music one day.
Daniel’s teachers say that he is like the “mayor” of the school. Everybody knows him because he stops and smiles at everyone he sees. During school-wide concerts, he is front and center dancing to the music making everyone happy. He even blows a kiss and says a “Ba” (bye!) to his bus driver and matron each day before he gets off the bus. One of his teachers said, “you can’t help but smile when you’re around him!”Daniel gives the best hugs and snuggles. He’s our little mush. We truly feel blessed that he has such an amiable, friendly personality. He truly loves his five year old sister Bernadette. Bernadette has become like another physical therapist, nurse, teacher, and cheerleader. She is his chief motivator. He chases her around squealing and mimicking whatever she is doing. Bernadette is a very special sibling who takes joy in all that Daniel has accomplished. She will shout “Look at Daniel!” to be sure no one misses what he is able to do. The whole family shares in the joy that both children bring.