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, March 26, 2013

Tuesday Morning

It has been a really busy week! In fact, this time of year is busy and its going to be busy for a couple more weeks. I have to make the time to sneak in a post here and there. First thing-this morning....I wish I could understand why but, she was so good!! She wanted to throw one tantrum about her "cheese" but held back. Her thing right now is to bring a un-opened "Tillamoo's" (little square packaged cheese) on the bus. I gave it to her and she went to throw it on the ground because of "some reason" but held back. No other outbursts happened this morning. I kept on guard, I kept waiting for the slap or the scream but nope-I hope she feels alright:) It was awesome.

Yesterday Asia had a renal ultrasound-really easy, she was so good. In fact, she almost fell asleep with the dark room-low lights and sound of the machine humming. I think it made me sleepy as well. Worst part is that it tickled her and she didn't like that much but, results should be in soon. I am not expecting anything to be wrong but Dr's thought it would be a good idea-she's never had it done. With her Chromosome 2 disorder and she has such problems with constipation and potty training it wasn't a bad idea to check it out. She actually said "potty" to me yesterday!! She didn't want to go in the bathroom but, maybe she is starting to recognize the sensation-I think I may wait a couple months until school is out and then try the potty training again. I've gotten some good ideas on motivation and things to keep her busy while we are trying.

This weekend was Asia's brothers birthday. He turned 5 and we took the extended family to a trampoline park. Everyone had a good time except Asia. Oooooh she hated it! I really think it was because the facility was so loud. She has some sensory issues and I have noted before that she is extremely naughty in a noisy environment-it was no different this weekend. She wouldn't stop screaming. I may want to consider keeping her home even if it is a family event like that. She is so miserable and would probably prefer to stay at home.

Something clicked this morning. There is this cute story going around on facebook about the little Autistic girl who didn't want to eat her "broken hamburger". The story is really giving props to the restaurant but, it really hit home with me when handling special needs kids. This morning the Mom was on the radio and I heard her story and I could relate the story to Asia.  This little girl (who can talk) didn't want to eat her hamburger because it was "broken" meaning it was cut in half. Asia's disorder (2q23.1) is in the Autistic spectrum-she often displays mannerisms that relate to this disorder. Sometimes we can not figure out what is wrong with the food we give her, the toy, the shoe, the game on her iPad and maybe it is the way it is presented? Maybe in her mind it is not the way it "should be" and throws a tantrum. Her chips need to be in a bag, she wants to watch me open her cheese etc. But, because she can not talk we don't know this. I am going to have to keep track of when something is "acceptable" to Asia and try it out.

Here is a link to that cute story, I am sure if you have special needs kids you would understand. Everything from "do I take her out today?" to "uh-oh what is she going to do?". It's on the Chili's facebook page and I do give props to the Chili's staff. People are so often cruel about these types of things and they worked it perfectly and any parent would be so appreciative in this situation.

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