Calvin is our 5-year-old goofball, obsessed with all things dinosaurs and trains. Calvin’s favorite places to visit are science museums and Starbucks. He is curious but cautious. He has a serious sweet tooth. He loves to sing, laugh, read books, and make friends.
Calvin was born with a chromosome anomaly called 22q deletion syndrome. This means that he has the usual 46 chromosomes, but his 22nd chromosome is missing a tiny piece (a microdeletion). His dad and I do not have this deletion, it happened spontaneously when Calvin was developing in utero (de novo). But, we didn’t find out about Calvin’s missing piece until he was 3 months old.
Within the first two months of his life, a series of doctor appointments led us through the discovery of several minor medical issues that Calvin had going on. It started with feeding problems and slow weight gain… a tongue tie that had to be clipped… a heart murmur caused by a VSD… a diaphram eventration… enlarged kidneys… inguinal hernias that needed surgery…
The sheer number of anatomical differences was a big red flag for our pediatrician, who sent us over to genetics to have Calvin tested for an underlying condition. Turns out that underlying condition was a microdeletion on his 22nd chromosome.
22q deletion syndrome is not extremely rare. It’s the second most common chromosome anomaly after Down Syndrome. In the past it has gone by other names including VeloCardioFacial Syndrome (VCFS) and DiGeorge Syndrome. Those names are associated with specific symptoms and effects resulting from the same microdeletion.
There are a number of different possible effects of 22q deletion. Calvin happened to be very lucky that his anatomical differences have not been not life-threatening. Some 22q babies need immediate surgery after birth, usually because of congenital heart defects. Calvin still sees his cardiologist for an annual check up and so far his VSD does not require surgery and is not impacting his health. He has another difference in his heart anatomy, a bicuspid aortic valve, that may require surgery when he is an adult.
He did have surgery to close up the hernias when he was 5 months old. (Newborn hernias are not the result of injury like adult hernias, they are just tiny holes in the inguinal canal that didn’t close up during the baby’s development, and they sometimes need to be closed up with a little surgical stitch to keep other tissues from getting pushed into the holes.)
Calvin has also had annual check ups with a nephrologist to monitor his kidneys. At his most recent check up, his kidneys no longer look enlarged.
Some people with 22q deletion have immunological problems, and problems with their endocrine system. Calvin has not had any of these health issues, but he was followed by an immunologist and endocrinologist for his first year, to be sure that he was developing fine in those areas. He was recently checked and cleared again, at age 4, by endocrinology, and he has a check up coming up with an immunologist just to make sure everything is still fine.
22q deletion is often associated with delayed motor development and delayed speech. Calvin’s motor milestones were on the late end of normal, and now he runs and climbs and jumps on the bed like most other 3-year-olds!
His first word, Mama, came at 18 months, but at that time he was also picking up sign language the way typical early toddlers pick up speech. At his 2nd birthday, he could use over 120 ASL signs, but would only say a handful of spoken words. He began speech therapy at 2 years old, and by his third birthday he could speak in short sentences. Now he is a total chatterbox! He talks, asks questions (mostly: why??), and sings songs, but he is still difficult for most people to understand.
Calvin was born with a type of cleft palate called a submucosal cleft, which means that the palate was not open, but the underlying muscles were not attached where they should have been and did not function as they are expected to for eating and talking. This explained the feeding problems when he was an infant. Because of this cleft, another annual check up for Calvin is Craniofacial Clinic where he is seen by several different specialists including an ENT, an audiologist, a speech pathologist, a plastic surgeon, and a pediatric orthodontist. Just before his 3rd birthday, Calvin had a second surgery to repair the submucosal cleft. As of his most receng visit to CF clinic (at age 5), it looks like his palate muscles are capable of functioning properly, but he still has articulation difficulties due to poor “motor planning.” It has to do with getting his brain and his mouth muscles to work together correctly to allow him to make those sounds (specifically consonant sounds) correctly. It’s something that develops naturally in most babies, but it’s a common challenge for individuals with 22q deletion.
Once he started speaking in phrases and sentences, he dropped his signs and now he only remembers a handful. Although he doesn’t remember the real ASL signs that he knew as a baby, he still relies on gestures and pointing when he’s talking to people who aren’t understanding him. His dad and I understand him almost perfectly, and other close relatives understand him a lot of the time. His teachers were able to understand him after the first couple of months of school. At school, he now also has a communication book with lots of pictures and words to help him supplement his speech when he needs it. He really is good at making himself understood one way or another.
To help with his articulation development, Calvin goes to speech therapy at school. He also works with an OT to help with his fine motor skills.
He’s a smart little cookie and, though he is teeny tiny for his age (he has been below the 1st percentile for his size all his life), he is very capable and independent. He uses little step stools all over the house to reach the things he needs, and he’s always eager to do things himself and be a helper.
Best of all, he is such a happy kid! Friendly and sweet and a joy to everyone he meets.
To say we were surprised by Calvin’s genetic diagnosis would be an understatement. We had done the usual genetic testing during my pregnancy in 2012, we were not at risk for any genetic disorders, and we had no way of seeing it coming. It was scary at first. It was a TON of doctor appointments for the first two years. The first few months of appointments felt like all bad news. But after that, they started being all good news. We started hearing a lot of, “Well, he’s doing fine, we’ll look at him again in six months!” until eventually he was cleared from some of the medical specialists following him. Both surgeries were terrifying, not going to lie. But both were needed and, I’m thankful to say, both were successful. His speech problems have been the most severe effect of his syndrome. But his unusual way of talking has not stopped him from being a vibrant and joyful kid, and hearing him sing to himself in his room after bedtime is about the most heartwarming sound I have ever heard.
For more information in 22q deletion syndrome, check out these websites:
The International 22q11.2 Foundation