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, February 12, 2013


Asia is currently taking anti-seizure medication Depakote and Topamax. A while back we noticed her seizure activity was increasing. I was even getting notes sent home from school saying she fell, bonked her head etc. because of increased seizures. The activity seems to increase every so often and seems to worsen when she is sick. She has also been acting out a lot, even trying to "get" the kids at school when she is irritated-but the seizures and the outbursts have been going on far too long.

The different types of seizures that Asia has/had have all caused her dangerous situations. She has been to the hospital more then once on account of her banging her face and needing stitches. She would bite through her own lips, cut her gums and cheeks. Sometimes she would just fall face forward to the ground, often just straight down to her bottom. It was almost like her body would just give out and hit what ever was beneath her. Very hard situation-you never know when its coming. There was talk about a "helmet". Which really wasn't a bad idea but her personality would make it quite difficult. She also "zones" out quite a bit-looks like she may not be paying attention but she is seizing. Starring off into space. The seizures really need to be under control. She can not progress in therapies and school if they aren't managed.

Her doses of Topamax were increased a couple of months ago and that didn't seem to be working. She was still having many seizures during the day. Her Depakote levels were then increased about a month ago and this last week I have seen a change! I don't want to get my hopes up but, I have not noticed much seizure activity and her personality has been showing through again:) Her daily log report from school has been awesome...I am seeing comments like "she actually ate today", "she was so happy all day", "she had a fun day", "she ate all of her lunch today"-not many understand how much these simple comments mean. Yesterday she said "bye-bye Allie" to her older sister as she left for school which was a little shocking-I almost teared up a little, sounds so stupid but she doesn't do this kind of thing very often. She also has been so playful this week. The adjustment to medication is probably not fun. Since she cant talk I don't know what is irritating to her. I wont hold my breath but, I can hope right? Hope that maybe her seizure activity has lessened and maybe we are headed in the right direction to get them stopped.

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