November is 22q awareness month.
What is 22q?
22q is a lot of different things to a lot of people. To learn more about what it is as a whole, I suggest you visit 22q.org as they have a MUCH more in-depth look at what it is. I will only be talking about what 22q means to me and my family.
My little guy was diagnosed with 22q11.2 Chromosome Deletion. Which basically means he is missing a portion of his 22q chromosome. The 11.2 part to be exact. There are SO many ways this affects children and adults, nearly 180 different ways. (A lot of the children with 22q have similar facial features. I didn’t see it until I googled “Children with 22q.”)
How does this affect us?
We have dealt with, and are currently dealing with, some kidney issues; the major issue being that he only has one. We visit our Nephrologist several times a year to do some major blood tests to make sure the one remaining kidney he has is functioning as it should be. Unfortunately, he has some acidic blood which we take a prescription for. Fortunately, at this point that is the only thing wrong there. I say “at this point” because children with 22q change and grow, and when they change and grow, well, things change. As a result, we have routine blood tests every two months or so to make sure nothing has changed.
Next, we are working with our Endocrinologist and monitoring his growth hormone and thyroid levels. Just these past few months we’ve had some change requiring him to take thyroid medication. This brings us back to the routine blood tests. Had we not gotten his blood tests done we wouldn’t have known he had some thyroid issues.
We also visit with our Gastroenterologist and make sure the “plumbing” is working as it should. It doesn’t. I’m not going into great detail on this one. Lets just say that we have some problems with constipation and we have been treating it and as long as we remember to get him his medication on time, we have no problems. Fortunately, we don’t have to do lab work for this doctor.
We visit with a Ear, Nose, and Mouth doctor for several reasons. Children with 22q have seem to have issues in this area all around the board. We haven’t had to deal with a lot of these…yet. What kind of issue? Things like needing tubes in his ears, enlarged adenoids, cleft pallet, the list goes on. We also see this doctor for some cranial issues he has unrelated to the 22q.
We did have to see a cardiologist due to him having three holes in his heart. They all closed up with out surgery and we only have to see him once every two years or so. YAY!
Our Urologist said that since we see a Nephrologist, we don’t need to see him anymore. Another YAY! He was first in-listed into our army of Doctors because of testicular issues, unrelated to 22q. He is the one who got us in touch with our Nephrologist. I feel like he deserves a little shout out. He was extremely helpful, and got us going in the right direction.
That’s it for our specialists doctors, I think. Not only do we have those issues above that we are monitoring and keeping a close eye on, we also have a team of therapists that are working with us to get Ollie where he needs to be developmentally. We have Physical therapy and Speech therapy every week as well as having people coming into our home to help us with physical therapy and his overall development. We have come really far in a year and we are catching up. There are children who have 22q who have speech issues and developmental delays but I cant tell you with 100% certainty whether these developmental delays are from 22q or from things that had happened to him earlier in life.
How Does 22q affect my family?
It really has become “normal” to us, at the beginning when we were driving to appointments everywhere, it took its toll on me as the majority of our appointments are a 2 hour drive one way, and it was just mentally exhausting. I did leave my part time job in order to be home more, we lost that extra income. We do have a lot of appointments still, but we were able to get many of these in our home town which helped tremendously. Our oldest has adapted really well and actually get disappointed when he doesn’t get to see some of Ollie’s specialists, he has a few that he likes.
Another way we are affected is just not knowing. We DON’T know what Ollie will be like one year from now nonetheless 10 years from now.
What will happen in the future?
Well… where to begin, there is such a huge list of things that could happen or could not. 22q is sorta like playing the lottery, you may or may not win. At this point we are just taking it one day at a time, and when we get to the future, I’ll let you know.