Retrun to 22q Stories

You are here

Bobby was first diagnosed with 22q11.2 deletion syndrome in May 2012 at the age of 3 1/2 years old. Bobby was having issues with speech and was becoming frustrated with the fact that we couldn’t understand what he was trying to say most of the time. We scheduled a speech therapy evaluation through the public school system and based on that evalutation a recommendation was made for us to visit an ENT for further examination. We were referred to Children’s Memorial Hospital and based on the examination performed were sent for a FISH blood test. The ENT had observed a “notch” in Bobby’s soft palate and informed us that this abnormality is sometimes associated with a genetic disorder that she would like to have Bobby tested for. A few days later I received the call at work that Bobby had tested positive for the genetic disorder. I frantically scribbled down every detail the doctor provided on that call and hung up the phone in disbelief. I had never heard of anything close to this disorder-she had given me the terms DiGeorge Syndrome, Velo-Cardio something something…so I started researching on the internet. I spent hours on the internet reading about the many many health issues associated with this disorder and just felt lost and completely overwhelmed. Bobby has been a very healthy child his whole life with the exception of a brief hospital stay in the summer of 2010 for pneumonia from which he recovered quickly with antiobiotics. He did also have issues with tooth decay for which he needed oral surgery in September 2011. Eleven root canals were performed and dental implants placed. At the time, I was told by the dentist that the reason for the decay was from Bobby sleeping with a bottle in his mouth (which we never allowed him to do). This was definitely a hard thing to swallow as a parent thinking something I may have done caused this damage to my son\’s teeth. After we received the diagnosis though we started putting a few more pieces together. Bobby from the time he was an infant until now sometimes has liquids come out through his nose while drinking, he has a bent ear lobe on one of his ears and has a very small mouth and a small chin…we now know these are some of the tell tale signs of the disorder. Since May, we have been on the fast track for testing…to date we have gotten normal results for Bobby\’s heart and kidneys and his calcium levels and thyroid function. We are still waiting for additional immune specific blood test results but we are hoping for normal or minor deficiencies to be reported since Bobby has been very healthy up until this point in his life. He does require surgery to correct the velo-pharyngeal insufficiency that has been observed which we are hoping to schedule later this year. The Genetics Counselor at Lurie Children’s Hospital has been great; she has provided us with so much valuable information and is assisting in leading us through this process of testing and actions needed to help correct Bobby\’s issue with his palate. We know potentially there could be more health issues down the road but we will conquer those issues if and when they arise. Bobby has been a champ so far in cooperating with all of the doctor’s visits and blood tests he\’s had to have. For fun, Bobby loves playing sports and video games and playing in his grandparent’s pool with his 6 year old brother Ronnie and all of his cousins. He loves superheroes…especially Spiderman and Batman and can watch those movies over and over and over again. He loves being read to as well. Bobby is very sweet and also very shy; we\’re hoping once he has his surgery and progresses with speech therapy he becomes more outgoing with the confidence we\’re sure he\’ll gain in being able to express himself and communicate more clearly with everyone.

Latest News

Upcoming Event

Spread the Word