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 seasonatwater@gmail.com

Friday, March 28, 2014

Last Day of Aware of Angels Launch!

I have been so busy with Aware of Angels and HB105 I have neglected this blog a little....sorry! Today is the last day of the AOA launch and just in case you have not visited our website or Facebook page you will want to today! We have a huge giveaway that ends tonight at midnight. It is really easy to enter, just find us on Facebook and look for the blue giveaway tab at the top to enter. You can also enter on Instagram. This has kept me very busy but, we have found lots of new friends and we were able to spread a little bit of Awareness for these Angels!
We also have awesome Aware of Angels shirts! Only for the launch ~ now through Monday the 28th, with a $25 donation to Aware of Angels you can select the shirt of your choice. Details of shirts are on Facebook.This price will raise after Monday to $75. We are a non-profit organization and these funds will go to help our Angels find a diagnosis, research and sponsor the Photography Project. Any questions let me know!!

















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