Chips, Cheese and Sometimes Marshmallows

Life with 2q23.1 microdeletion syndrome (chromosome 2)

Chips, Cheese & Sometimes Marshmallows? What? Let me explain, if anyone knows my daughter Asia this completely makes sense:) Not only do we have many medical issues but, food issues are one of our major daily obstacles. You'll see...

Asia's List of Symptoms (2q23.1)

Whether or not all of Asia's Symptoms are related to the 2q23.1 microdeletion is unknown at this time:

At this time her symptoms are: Seizures, Hypotonia (muscle weakness), Development delay, Motor Delay, Language impairment, Non-verbal, Ataxia, Behavioral problems, Sleep disturbances, Short attention span, Repetitive behavior, Aggression, Autistic-like Symptoms, Sensory Processing Disorder (hypo-sensitive), Tongue-tied, Sacral Dimple, Possible Macroglossia (large tongue), Sandal Gap on foot, Constipation, Blepharitis, Hearing loss & Microcephaly.

~This list may be edited with new information~
There are additional symptoms with this rare syndrome that Asia does not have.

Many people contact me to ask what type of testing Asia had to get her diagnoses. Asia had a simple blood test performed which is called a "Cytogenic Microarray". There is a post in the blog that goes over this a little more.

Conact Info and Support Group

2q23.1 Microdeletion Syndrome has a great support group on Facebook. It is a closed group where parents can discuss their questions/concerns about their children with 2q. When logged into FB just search 2q23.1 Microdeletion Syndrome and find the closed group and "join". Also, please feel free to email me with any questions at

Tuesday, May 14, 2013

Disability Parking

Lately, I have been struggling getting Asia in and out of the car and carrying her long distances to get to where we are going-whether it be school, stores, Dr. appointments etc. She is getting so big!! I swear she has grown so much this year-yay! It doesn't help that I am so short and I just can't handle her height:) I use a stroller when I can but, she is also getting to big for the ones I have. I never in my whole life thought that I would request a disabled parking tag but, I did. I didn't even know that I could and that is why I am sharing this. I feel a little guilty because I know there are people who need those parking stalls way more then I do but, I struggle with Asia's hypotonia (muscle weakness) she always wants to be carried and I cant do it anymore. Dad can do that easily-I cant:) Asia has a lot of medical conditions but the Dr. said because she has epilepsy she definitely qualified. My intent is to just use the stalls when needed and I have only used it once-it was when I was alone and she had to go to a Dr.'s appointment. I have to say that is gave me a sigh of relief when I realized I didn't have to carry her through the parking lot. It was so nice. It was then that I realized that she really does have a disability (that could be indefinite) and I shouldn't feel bad because of my parking placard. I am getting a new license plate but I can not get it until my yearly registration is up.

What I did is I talked to Asia's pediatrician first about qualifying then I downloaded the application form-here's a link 
I filled out my portion then dropped it off to Asia's pediatrician to sign. I brought that in to the DMV and they gave me the temporary Placard to hang inside until I can get my new plate. This is a sample of a Placard-I received two (for our two cars) then I will return one when I get the plate.
The license plate will just have a disable picture on it and I wont have to worry about the placard. This will probably be so worth it the older she gets.
~Asia is still doing so well-I love that I have a "mostly" happy girl in the morning when I get her up-she teases and laughs until I can not figure out what she wants to bring on the bus-then she gets mad:)
~She has been biting her arm....argh. Today she came home with this on her arm and I am guessing it was put there to try and stop it?? Good idea.
~I have to say I still have not noticed any recent seizures, I am dying- I can not express how happy I am! I think it's a combo of updated medication dosage a few months ago and no Miralax...If this keeps up maybe she will be able to retain information and start progressing more. We haven't seen a lot of progression this year:(
~Someone at school knows Asia and knows she loves Elmo-she brought this home today, so cute!
~We have our Now I Can benefit Walk/Run this Saturday. It's to raise funds to help children with disabilities and you can register all the way up until the race. I will be pushing Asia and I have got the whole family doing the 1mile, along with a ton of extended family-we should be having a lot of fun. Go Asia's Team! Will post pics.
~We have started learning a bunch of new signs at speech therapy. Asia did really well yesterday, I think it will be good.
~Asia is such a stinker-she was laughing hysterically while I was driving today and I didn't have any idea why until I went to get her out of the car. She gave the baby a open bag of chips and she knew it was going to be trouble:) Look in the background of this pic...
~I have had so many ask what we are using for Asia's constipation...sorry. I will get all that posted next! She is doing fine, no big problems to report in that area-such a relief. That is something so hard to watch your children struggle with. I feel for you and completely understand your pain!
~Asia will be attending the extended school year program. Meaning-summer school. I am actually so glad. She needs it. She needs to have something to keep her going during the day and to help her retain some of the information she is learning.

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