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

Saturday, July 6, 2013

Happy 4th of july!!

Happy 4th of July!
 

We love the 4th of July! I think it is one of Asia's favorite holidays-which I find a little strange. She has "noise" issues but LOVES fireworks. She loved the parade once we found a spot that was cool and not too crowded. Our first "spot" she was sooooo moody! Throwing stuff as people walked by and screaming.

Our family-big sister was our of town....
 I have mentioned before that she loves to go "fast" and "high"-she begged to go "on, on, on" a carnival ride. Not the kiddy rides she wants the bigger ones-loves them. I wish I would have had my camera on me to capture the look of bliss on her face the higher and faster we went, as she clapped and said "yay!" It calms her down and fulfills her sensory seeking "itch".  We had a great day!


Fireworks!


 ~I am excited to tell you that I am going to have my first "guest" post happening in the next day or so. My new friend Cathy:) contacted me after her daughter was just recently diagnosed with 2q23.1 (2q). I have asked her to share a little about her beautiful daughter.~
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