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

Saturday, January 26, 2013

Only slapped 15x's today

I have got to find a way to make being slapped humorous. When I titled my post today-it became so. Why can't I take myself out of the situation better when it's happening. When I tell someone that it's been a pretty good day - Asia has probably only slapped me in the face 15x's - it becomes a little funny?

Along with documenting daily experiences, solving some mysteries, and finding a way to create happiness in Asia's life-I want to find the humor, the joy. I am looking for laughs. I want to create a "journal" that maybe someday she will be able to read. I read and hear all the time from families with kids who have special needs that claim "life is so great", "that we laugh more then other families do", that their child "brings so much joy" to their lives. I'm going to get honest and please remember when I say this, Asia is amazing. She is a blessing and does bring joy to our family. Adults and children are drawn to her. I wouldn't trade her for anything but, daily life is unpredictable, its complex and involved. Asia is attending school full day and before she leaves and when she returns home she spends most of her time in a screaming tantrum (my big question is how to solve this). We have a good day here and there-and I know its rare because when we do, I notice right away that its happening. It is the best feeling in the world when I feel Asia has had a good day and I want to solve this anomaly on what gives her this"good day".

I have read a few blogs about children in similar situations and it really helped me to realize that other people are going through the same thing. It helped to know that someone else is giving their child the same type of medications, going through the same surgery's, having the same tests done, and seeing similar responses to experience as my Asia is. Often times, it's the regular people out there-not the Dr's- that do the most research, ask the hard questions and find the most answers to impending problems. I am looking for ideas on difficult daily experiences, input on how to handle certain situations and any advice I can get. In this blog I will revisit the past, give you the present and try to look into the future. I will give all details I can remember or find on what has happened with Asia medically, along with daily experiences. I will look for products to review and post on activities that Asia enjoys (or does not enjoy). I may have some posts done by "guests"-dad, siblings, friends, and extended family. Her condition is rare but, her symptoms are common among many children and maybe someone can relate.


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