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

Sunday, February 23, 2014

2q23.1 World Awareness Day is today!!

This is a very important event for Asia and all of the others affected with this syndrome. Awareness equals research! Here is how to show support:

 Find the Face Book events page; https://www.facebook.com/events/600818539982916/ and join, then wear something blue and post your pictures on the events page. Visit website link: http://2q23.org/

 We are hoping for 1000 pics today! 

 You can also show support and post your pics on; 
Twitter https://twitter.com/2q231 @2q231
Instagram  http://instagram.com/2q231 @2q23.1
Pinterest http://www.pinterest.com/2q231/ 


*Make sure you use the hash tag #2qworldawarenessday and tag @2q231
Thank you for all of your support!


Wearing Blue for silly Asia! Happy 2q Awareness Day!



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