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 15, 2013

Rare Gestures

I have been delaying this post this week because I didn't want it to be to negative. It's been a hard week-really down. Not exactly sure why, I have kind of felt that I am at a standstill. I haven't been blogging about Asia's situation for very long but, it has been the same for years. There has not been much progression with Asia and it can be so physically and mentally exhausting .With the knowledge now- that we really don't know how much she will change as she grows- can be kind of discouraging. I am sure I have phases, ups and downs with my own emotions. Some days I am just in the "daily routine", other days I question if things will get "any better" and occasionally I will have positive motivation from Asia to keep me hoping and enduring. Nonetheless, I am going out tonight-with my amazing husband and no kids-I need a break:)

The beginning of the week I filled out a questionnaire for the Unique organization:   -the questionnaire is to gather information for families and specialists to be used worldwide about the 2q23.1 microdeletion syndrome (because no one has done it yet). Someone I know who's child is diagnosed with 2q23.1 like Asia, mentioned that it was kind of depressing to fill that out and I was thinking maybe that has something to do with my week. There is so many things I don't know about her and all kinds of things I don't know if she will ever be "able" to do. I kind of wonder what else is in store for her/us. There is not a lot of help out there right now for these kids and they are hard to figure out. Maybe I should focus on a couple of accomplishments for her and look forward to them.

I had enough yesterday and probably wasn't the most patient or pleasant. It's not her fault but Asia can really be frustrating sometimes. I am tired this week of the tantrums and the "minor" physical abuse she can display. I guess I have caught myself wondering "how long will this last?". But now that I have it "written" down-I can move on. There is hope for next week. I do have to mention one thing. A couple of nights ago Asia was exceptionally grumpy-but, we were saying prayers before bed and she reached her little hands around my neck and kissed me on the mouth like 10 times:) I have to tell you that I was a little confused about what she was doing- especially when she just beat me up 5 minutes earlier-one of those rare gestures from her that we all look forward to. Maybe, just maybe she was saying "thanks for all you do"? At least that is how I am going to take it- so I can hope and endure:)

Other note:
~Seizure activity is still way down. I have only noticed a couple since her meds were increased and that is so awesome!
~She is really grumpy this week? Even problems on her daily school log saying she had trouble doing certain things during the day? and I say this because Asia does not "act out" at school. At least she has been really good in the past. Preschool years and Kindergarten her teachers were really surprised when Asia would throw a little tantrum in front of us. This year she may be a little grumpier at school and that might be because of stronger frustrations. She holds it all inside until she gets home:)
~Weather has been so warm this week-Loving it! Asia does not do well in the heat. Buses do not have A/C. (she has to wear layers to school that can be taken off and water bottle in back pack)

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