My son, Dexter, was diagnosed with 22q before he was born. At my 20 week ultrasound we were notified that there were some heart defects and other anomalies. We were sent to another hospital for another ultrasound and an amniocentesis. We then had to wait 7-10 business days to get the results. In that week of waiting, my dad very unexpectedly passed away, so I was doubly stressed out when the phone call ultimately came -- I had never heard of 22q11 microduplication and to this day (over 2.5 years later) it is still a struggle to get any information about the syndrome. For Dexter, the biggest challenge has probably been the heart surgeries -- he had an open heart surgery at 2 weeks old and an angioplasty about 7 month later. He has some other anomalies (physical and developmental) too, but he really takes everything in stride. I cannot imagine a happier, more positive child! As the parent, I find the lack of information and and research the biggest frustration.
The best thing that has come from the 22q diagnosis is the community. We belong to a few different circles -- the 22q duplication community is super supportive but widespread (I have never met another 22q dup family face-to-face) and the 22q Oregon deletion facebook group has been kind and fun. I've helped organize the annual "22q at the Zoo" event for Oregon the last couple years and have met some amazing 22q families. My son asks about those friends every time we go back to the zoo.
If I could ask one thing from the 22q community as a whole, it would be to be very deliberate with inclusivity and accuracy. We all know that it hard to find information on 22nd chromosome syndromes -- because of that, it is so disheartening when I get my hopes up with something touted as for 22q but find out that it's only actually for a subset of 22q (more often than not, 22q11 deletion). More than that, it's important to also acknowledge that it can be serious medical concern to have information mixed up and miscommunicated -- I have told doctors that my son has 22q microduplication and then they mistakenly write down "microdeletion" on his paperwork, or to see statement like "22q is correlated with an increased likelihood of ____" when it isn't actually all 22q syndromes. So, my ask to the community is two-fold: 1) use accurate wording in things. If something is just specifically for deletion or duplication or just for 22q11 or 22q13, write it out completely. Only use the phrase "22q" if it is actually meant to be inclusive of anything having to do with the 22nd Chromosome; 2) If you do have something that is more narrowly focused, consider expanding the scope to be more inclusive. It's stressful enough to unexpectedly come across a 22q-related diagnosis, I don't think we need to further divide ourselves. Let's be one big, supportive community!