Calvin and 22q

Meet Calvin.

Don't you just want to squish those cheeks?? He also has one single adorable dimple on his right one. He uses it to charm the ladies.

Within the first two months of his life, a series of doctor appointments led us through the discovery of several minor medical issues for Calvin... it started with feeding problems and slow weight gain... a tongue tie had to be clipped... a heart murmur was found... a diaphragm eventration... enlarged kidneys... 3 hernias to be repaired (later a 4th was found)... the sheer number of anatomical differences raised a red flag for his pediatrician so a genetic blood test was done to see if an underlying condition could connect the dots.

Turns out Calvin is missing a tiny section of his 22nd chromosome (a microdeletion). He didn't inherit this from me or his dad, it happened spontaneously (de novo) as this genetic anomaly most often does.

It's called 22q Deletion Syndrome and in the past, before those tiny microdeletions were detectable, this syndrome went by a few different names. The names we hear most often are VeloCardioFacial Syndrome (VCFS) and DiGeorge Syndrome. The other names are associated with specific symptoms and effects and advances in genetic testing revealed that they were caused by the same microdeletion.

22q deletion is associated with a number of effects, and they can be very severe. Some babies with this syndrome are born with congenital defects so serious they require immediate surgery. Calvin was lucky in many ways and we are forever thankful that he was spared more serious medical complications.

Here's Calvin's long list of effects:
Anatomical Differences
- Heart murmur caused by a ventricular septal defect (VSD... in other words, a tiny hole in the wall between his ventricles)
- Bicuspid aortic valve (usually this valve has 3 flaps, his has 2)
- Slightly enlarged kidneys
- 2 inguinal hernias,which were surgically repaired when he was 4 months old, and another hernia in his abdomen, which was repaired just before he turned 3.
- Eventrated diaphragm (this means his diaphragm has more fibrous tissue than normal which makes it shaped like a dome instead of a flat plane)
- Submucosal cleft palate (His palate was intact, but underlying muscles had a cleft which made them work less effectively. He had surgery in the Spring of 2015 to repair the cleft.)
- Small size (He is literally in less than the first percentile for weight and height!)

Developmental Differences
- Delayed motor skills: More like late end of normal... He crawled at 10 months and walked at 15 months.
- Delayed speech: He started using sign language at 18 months and by 24 months he knew over 100 signs, but had only about 10 spoken words. At 33 months, he was starting to talk in phrases but with severe articulation difficulties. At 3 years old, he can speak in phrases and some sentences, but his articulation difficulties remain. He has been in speech therapy since he was 2, and will continue speech therapy for the foreseeable future.


If you name the corresponding medical specialty to each thing on those lists you will get an idea of how many doctors Calvin has! Plus, add endocrinology, audiology, and immunology who have followed him as a precaution because other cases of 22q deletion involve problems in these areas.

It sounds worse than it is!

For the first two years, it meant a LOT of check ups and way more than his share of blood tests. But all in all, Calvin is healthy. All his anatomical issues were very mild. He is teeny tiny, but his height/weight ratio is healthy and he is strong and active. Most of his medical specialists have cleared him, meaning that he only needs to see them if something concerning comes up. He has had two surgeries, both have gone well, and he has recovered just fine. His cardiologist says it is very unlikely that he will ever need surgery for his VSD.

He's a smart little cookie. Very curious and very independent. He does have very challenging articulation problems when he speaks. His little mouth muscles have a hard time figuring out what to do to make the sounds he needs in order to speak clearly. But, he has learned a lot of sign language and he is very good at nonverbal communication, so his speech challenges don't keep him from being a very social and friendly little guy.

Best of all, he is truly a happy kid.


If you're interested in more about Calvin's development, check out these posts:
Calvin's Birth Story
22q11.21
Calvin's Big Year
Look Who's Walking
Talking Hands
And Sat And Sat And Sat
Two Little Too Little Boys
The Problem With a Crystal Ball
Why are Collarbones so Wimpy??
Calvin's Speech Therapy and Upcoming Surgery
Post-Palate Repair and On the Mend

And for more information on 22q Deletion Syndrome check out www.22q.org