22q

Have you ever heard of it?  Me neither.....until Isabella was diagnosed with it.  On April 16th we had had an appointment with Isabella's doctor and he wanted us to come in (rather than talk over the phone) to talk about her genetic test results because they were complicated.  That is not what I wanted to hear.   We were told that Isabella was found to have a chromosome 22q11.2 microduplication (meaning a part of one of her 22nd chromosomes was duplicated).  We were given 2 research papers on this topic by her doctor who unfortunately didn't seem to know much about the duplication because they specialize in other areas of genetics.  They told us that the complicated part was the size of her duplication was smaller than the other participants of the studies in the papers.  Because of this, they could not be 100% sure that this is the cause of her developmental delays.  (Now since over a month has passed and I have researched this more, I have read that others have smaller duplications as well).  What we do know is that this happened completely spontaneously because my husband and I were tested and we do not have the duplication (from what I read 70% of the people with the dup have it passed down from a parent and with 30% it happens spontaneously).

Unfortunately, after the time spent researching this I still don't really have a grasp on how she will progress.  This syndrome (not sure what else to call it) is so variable that some people have it and have no symptoms, others have mild symptoms and on down to severe.  Some children have medical issues and others do not.

I have had some time to process all of this and I am relieved that we now have a reason for these global delays.  One day we have no idea what 22q stands for and the next day it is a part of our life.  Knowing this has opened up a whole world of support and connecting with other families with children of the same.  I have found a facebook group designated for families with members with 22q duplication (there are also 22q deletions as well).  Through a website we found out that a few years ago someone started a 22q at the zoo awareness day where people around the world spend a day at a participating zoo and connect with other families in similar situations.  May 19th was the 22q awareness and so we spent the day at the Phillly zoo.  I was able to talk with another mom who has a 6 year old son with 22q dup and also talked briefly with 2 of the coordinators at CHOP where there is a genetic center called "22q and you" that is for children with the deletion or duplication.

I am currently in the process of getting an appointment for Isabella at CHOP.  I am hoping we can get some more questions answered from the experts who are currently researching this.  I don't know that much will change in the course of what we are doing now for her as far as therapies go, however they will be able to direct us from a medical standpoint as to what we should be testing her for.  Apparently she needs her heart, spine and kidneys tested to make sure there are no underlying health concerns.  After talking with the coordinator it sounds like she may be fine with those things because she has had no heart concerns, etc at this point, but I guess we still need to get her tested.

Wanted to share some pictures from our fun day at the zoo!

Izzy holding daddy's hand!
They were giving away toy zebras and Isaiah had to have one in each hand all day!