Hi, Jenny. You are not alone! While this is a rare genetic disorder, the amount of info is growing. A great website based in the UK is Unique: http://www.rarechromo.org/html/home.asp
They have some helpful materials on their website, including a downloadable pamphlet about this condition, it's symptoms and some things to look out for. They also maintain a confidential database of families affected by 1q21.1 micro duplication who volunteer to share their info with other families. We participated in that and revived a list of about 30 affected families and their contact info but none live close to us so I haven't reached out to anyone.
If you read back through the posts and topics on this RareShare website that we're posting on here, you'll get a good sense of the variety of challenges that other families are dealing with--some relatively mild and others quite serious. There is also at least one major international research study going on right now (SIMONS VIP) that you may want to participate in. My family did, and we learned more from those three days than we've learned since our diagnosis--it was the first time our son had ever been seen by doctors and therapists that had encountered other patients with this rare condition.
Our son is 4.5 years old now and has relatively mild complications that seem related to his genetic duplication -- he's had eye surgery for strabismus (crossed eyes), ear tubes, and some minor dysmorphia (small ears, small mouth, relatively short fingers). He's never been a good sleeper, but recently we've had great success with time-released melatonin -- and he's giving us full nights of sleep for the first time in his life. He's an incredibly affectionate and bright child -- full of life and energy. He had some significant language delays between ages 1-3 but he's almost entirely overcome those by now. He does not have autism, but he is currently being evaluated for ADHD. He also has some significant fine motor delays that we are working on through his preschool and occupational therapists with the school. He is quite intelligent and we hope he will be mainstreamed in regular education classes by the 1st or 2nd grade. By age, he's supposed to start kindergarten in the fall, but we may hold him out a year to work on "catching up" with fine motor and attention. Since he's a mid-August birthday, he'd likely be one of the youngest in his class if he started "on time."
As I said earlier we've learned a lot about our son's particular challenges through the battery of tests and consultations we experienced by participating in the SIMONS VIP study. We had gross and fine motor skills evaluations, intelligence testing, psychological observations, autism testing. As we explore the likely diagnosis of ADHD, we're working with a team that includes a neurologist, a psychiatrist, and a social worker that works with entire families on behavioral strategies and therapies.
If you'd like to ask any questions privately (not on a public board) feel free to email me at mwpotter at yahoo.com.
Best of luck to ou and your family as you figure out what this diagnosis means for you all.