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

Wednesday, September 25, 2013

Barbies and Baby Dolls

So today I found myself having a "moment"-I started packing up some of Asia's toys to donate...old Barbie dolls she never played with, some dress-ups she hardly used, a baby doll swing along with other items. I also found myself cleaning out her dresser a little and taking out the size 2T big girl Elmo undies that would never fit now. It's kind of a hard thing to realize she has never had much interest in the things that little girl would normally be interested in (Barbie's and Babies). I felt like I was "burying" her childhood and she hasn't experienced it yet.  If one day she wants to play with Barbie's-I will buy her new Barbie's:). It was kind of hard on me-it felt weird. She is 7yrs old-I'm not ready for her to be a "big girl" because she hasn't experienced being a "little girl" yet. Reality is that she is different and unique. It really isn't that important that she doesn't "play" the same as other kids just difficult to swallow sometimes. By tossing out old toys that never got used and underwear because she is not potty trained even today I am facing reality and moving on. I can remember one time she wanted a baby doll in the car and it was a little unusual for her so I took pics on my phone-it was so cute. Before bed tonight I dug out one of her old stuffed animals, a lion she called "Pa Pa" just to get her a "toy" and see if she would respond. She was actually excited to see him and said "Nigh Nigh Pa Pa". Then wanted her "book, book" (a flaghouse magazine) and snuggled into bed. I guess if a magazine brings her joy and comfort I should not complain, right?:)

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