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

Thursday, September 19, 2013

Asia gets a bike!

This video is kind of long...sorry 2 minutes. I have to share-Asia received a special gift! We are part of a couple local organizations for families with children who have special needs. One of those organizations assist children with things that insurance wont cover but, can improve their lives. Asia loves the bike in her PT lessons, her therapist thought that Asia would benefit from a bike. She loves it, it would get her the physical therapy she needs and she could feel like "one of the kids." So, we put in a request with our amazing organization and it was approved! We ordered green so we can re-gift it to a child when she grows out of it. We took her on a long bike ride and she loved every minute-especially when she could go fast and crazy:) We can't be any more grateful-these are not cheap and feel very lucky. Yay Asia! It's definately something to make her smile.

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