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

Monday, February 3, 2014

2q23.1 Microdeletion/Duplication World Awareness Day!

February 23 is the World Awareness Day for 2q23.1 Microdeletion/Duplication Syndrome. There is a virtual event hosted on Face Book ~ just search 2q23.1 Microdeletion/Duplication Syndrome Awareness Day. The goal this year is to get 1000 pictures from around the world of our 2q friends wearing blue. More info below:


2q23.1 Microdeletion/Duplication Syndrome is an extremely rare genetic condition that affects approximately 200 men, women, and children worldwide. Cases have been reported in Argentina, Australia, Belgium, Belarus, Canada, China, France, Great Britain, Italy, New Zealand, Netherlands, Spain, and United States. Our goal is to reach out the newly diagnosed while raising awareness about 2q23.1 Microdeletion/Duplication Syndrome. You can help us raise awareness by wearing blue, wearing a t-shirt with our logo, using our logo in your profile picture in any social media outlets, taking your picture & posting it on our events page, making a video & posting it on our events page, hosting or attending an event in your local community to help raise awareness, and countless other ways.

Please note this is a virtual online event. Just like last year, please take a picture of yourself (and/or your family) in something Blue and post to the Events page. Just a way to show support for children with unique Genes like our kiddos.

You can post it anytime between now and the 23rd.
Our goal is 1000 pictures from all over the World.

Much Love and Thanks from the families of kiddos with 2q23.1 Microdeletion/Duplication Syndrome.

To raise awareness, please feel free to copy this logo and share on your 
Face Book profiles, timelines and posts! Any other social media 
outlets are great too-Instagram, twitter etc. 
Thank you!!!!

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