Archive for July, 2013
Welcome to the name game. What do Di George, 22Q11.2 Deletion Syndrome, and VSFS all have in common? They basically all fall under 22Q11.2, which is the syndrome that Jenna has. What we decide to call it, really doesn’t matter, for the most part, they are the same. I think shortening it to 22Q is the easiest, and what most people are preferring.
Since Jenna’s diagnosis I have spent the last few weeks in research mode. What does this diagnosis mean? Why wasn’t Jenna diagnosed years ago? How could none of the doctors and specialists have know this is what she had? 22Q is the second most common chromosomal disorder in the world! Why aren’t professionals more aware of the signs? Basically, because these kids don’t “stick out like a sore thumb”, they go unnoticed. If you have a child who doesn’t have a major health issues (i.e. heart problems, immune problems, etc.), not being diagnosed is very common.
So, what does this mean for Jenna? For the most part we are very lucky so far. Jenna has been a very healthy child and her delays appear relatively mild compared to some. However, there are some possible “silent” health problems we need to check out. She will need to go to a cardiologist to have her heart thoroughly examined, she will need to go to an ENT to have her hypernasality checked out to see what type of palate issue causes it, she will need to go to an immunologist to check for underlying immune issues, she will need to go to a Rheumatologist to find a reason for her joint pains, she will need to have a kidney ultrasound, a C-Spine x-ray, and the list goes on.
I’m thankful to finally have an answer. Jenna is such a sweet little girls. Here is a link to her story on the Dempster Family Foundation site. They also have a lot of good information about 22q on the site as well.
We just got back from Tahoe and had a fabulous time! We braved it and drove with all 5 kids and grandma too. We stopped in Sacramento and met up with T’s parents and had a nice dinner at a little pizza place downtown. Tahoe was beautiful and the weather was perfect. We spent our days hiking, hanging out at the beach (lake beach that is), kayaking, and eating a lot of good food. It was great to spend time with the family. The trip ended with a dance performance choreographed by Kami and Kaitlin.
While we were there, T and I celebrated our first wedding anniversary. We got away from the kids, went gambling at the casino (only lost $3.00) and had a wonderful dinner at a very romantic restaurant.
Now for an update on Jenna and her diagnosis. We have an answer. She has a chromosomal disorder called 22q deletion, aka DiGeorge Syndrome. It explains a lot and is why she has learning disabilities, as well as other physical issues (low muscle tone, joint pain, etc). We are very lucky that she has not had the heart issues that many have, or the low calcium levels. However with this new diagnosis, we will be seeing many specialists just to confirm all is good with her health. I’m still in the process of researching it all, but again, we have an answer and that is huge!
I confess, I have been really bad about blogging lately. I’m not sure why. Perhaps it is the challenges of juggling five kids at home, two out of the home, a grandchild, a husband, mounds of laundry, cooking, cleaning, and trying to fit a little school for myself in there! Yes, that has to be it.
Since I haven’t posted since January, I guess a little update is due. The kids just finished the school year and are now officially going into 3rd, 5th, 6th, 7th, and 8th grades! They are still all in the same school, but this will be the last year for that, as Jenna will go off to high school in 2014. But, I don’t even want to think about that yet!
Kami and Claire had their dance recital in May. Kami is still super passionate about dance, but Claire has just informed me she would like to play soccer. Kami just finished a two week dance intensive camp where she danced 7 hours a day. The performance was great and she was in 7 dances. Needless to say she wants to add more dance classes to her already busy schedule next year. I’m not sure how I will pull it off, especially since now I have to figure out soccer for Claire, and horseback riding for Jenna, and who knows what for TJ and Charlie! I can do this, I can be in five different places at once, right?
Next week we are going on vacation. We are packing up the suburban and getting on the road for Lake Tahoe! The best part is T’s parents will be there, as well as his sister and her kids. It is kind of like a mini-family reunion without all of the family. I wish everyone was going, but that trip is planned for next year (2014 cruise to Alaska).
Now for the struggles. Most know that Jenna and TJ are in resource at school. They both get special help with the classes they struggle with, and they both work at well below grade level in math and reading. The school staff indicated at their last IEP’s that the kids really should get official diagnosis’ to continue receiving help beyond middle school. What they have now is only speech/language IEP’s, and that may not be enough to follow them through the years. I don’t get this, as they are clearly so far below grade level, how could they ever be expected to do the same work as the other students? Anyway, I asked the doctor to refer us to a neurologist and she did. Jenna had her appointment last month and TJ’s is in October. The doctor ordered a Chromosome Microarray test for Jenna. She suspected she may have a chromosomal disorder. Well, yesterday I got a call from the nurse that there were abnormalities with the test. One part of me is totally bummed out, but the other part of me is glad we may finally have an answer. I will be going in next week for the results. Whatever they are, it doesn’t change who she is, or the fact that she is and will always be her unique self. 🙂