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

Tuesday, May 21, 2013

Race Day

This weekend we created "Asia's Team" to help benefit children with disabilities and ran/walked the 1mile fun run. We had a really great time-Asia had a ton of family support along with a few "spirit runners" and we were able to help raise a little bit for charity. The weather was a little cold but didn't start to rain until the race was finished. I did run Asia and her baby brother and it was harder then I thought it would be to push them:) Good experience though and I will know what to expect next year-we plan on doing it again. The kids had a great time. Asia & baby didn't make a peep the whole mile until we passed a McDonalds-ahhhh! Then that is all she could think about and it made her a little grumpy when we were finished. Asia got a third in her age group:) and I am pretty sure she really enjoyed the run. Thanks to Grammy, aunts, uncles and all of her cousins that ran with her.
 Race Packets...
 First in line...

 Big Sister...

 Medals...

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