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, July 19, 2014

Asia can ride a bike?!?

I am terrible at blogging.....I have been so busy with my other projects that I have not made much time to post updates on Asia and I feel guilty every time I think about it. I guess I shouldn't feel bad? Things are busy but I feel sad because I want to document those things that Asia can finally "do" or updates on her health or syndrome. To share info that might help know. I will catch up on some of them soon I hope. I also kind of figure anyone that looks at this blog is already involved in Asia's life somewhat and already knows about everything I post, right:)? I definitely want to share this. Remember last year, Asia was gifted with a special needs "bike". She was no where close to being able to ride it. She couldn't pedal, no muscle strength. I really hoped that someday she could. It would be amazing if she could ride along her brother outside and actually "play" like a normal child. Well, this year we pulled it out and guess what? Asia can ride her bike!?! I was utterly in shock. She doesn't have steering the bike down yet but I don't think it will take much time. She was in bliss and I teared up, happy tears.

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