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

Friday, March 8, 2013

"It" happens

I received a few notes from people that have currently viewed this blog-all extremely nice and supportive and I greatly appreciate your comments! I want everyone to know that I have 3 additional children and a amazing husband and we do have good times:) I know it seems like I have these stressful days with out much more but, this blog is only about and for Asia. She is a huge part of my day but, not the only part:) I don't want people to feel bad for me I really just want to try and figure her out and what helps her the most. I want people to understand her and her situation a little better (and possibly others). This is also a great "venting" opportunity that really has been working for me. When I put something down in writing it's like I am taking notes to solve a problem and then I can forget it because I know I have it to refer back to. Love the support, thank you!!

On that note....I have a few things
~Never ignore the child who has sleep should have seen what I went in to this morning. A scene I haven't witnessed for awhile and it's almost embarrassing to share but it happens. I mean "it" all over her room. Asia is not potty trained. She almost has a phobia of the toilet and has never actually gone. She knows the routine but it's not clicking-I don't even know if she understands the sensation of needing to go or senses if she has soiled herself. This morning there was a poopy diaper in her dresser drawer and a huge mess. Didn't I just wash her bedding last night? Yes, I did.
~Food is such a issue right now. I've got breakfast down: Pedia-sure drinks with a straw, alternating 3 flavors with a "Tillamook" vanilla yougurt for meds. I'm going to stick with it until it stops working. She eats lunch at school and then dinner...oh man if I could figure this one out my life would be changed. Texture is a huge issue right now. Even her favorites are bothering her. Tonight after several tries I had to get out a back up (which is butternut squash). She is in a great mood right now-FOOD, it's such a mystery.

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