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, February 26, 2013

2q23.1 Microdeletion Syndrome

I received Asia's lab test today and what I previously heard as a 2q37 is actually a 2q23.1 microdeletion syndrome. I am finding that this is even more rare then the 2q37 deletion. I have found a few articles, the lab report listed some references and I have found a few other families dealing with the same diagnoses. So, I am going to research and hopefully get some key points in another post.
Meanwhile...I have lost my pleasant Asia to a hellacious (is that a word?) beast:) If only I could figure out her moods-whoa! She has been so grumpy at home and even school-not eating at school and non-stop screamer. She is currently back to the hair pulling, kicking, and hitting that we ohhh so love, please give us patience:)
Haven't noticed any true seizure activity-she has gotten a sleepy zoned out look a few times the last couple days but I cant say it was seizing-still crossing fingers!
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