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

Monday, March 4, 2013

Re-visit to Dentist

Today Asia had to revisit the dentist to get a cavity filled. You know how much I love taking Asia to the dentist-see my last post on the dentist. We decided to fill the cavity -even though it's a baby tooth-because it is a molar and she will still have it for quite awhile. It was after school and she's already moody because she is tired...In order to do this without any kind of sedation we had to be tricky. They tried to prop her mouth open with the rubber/scissor thing:) but she somehow managed to keep spitting it out. I am always so worried she is going to bite them! I held her arms while the tech held her tongue back with the mirror while she was holding two other instruments and the dentist went as fast as he could:) We got it done-relief! It was not easy. She threw her "penguin prize"at the dentist after and pretty much ripped my shirt off-luckily no one was standing in the hall but if they have camera's they def got a sneak peek:) Another note to self...don't wear a shirt that has a stretchy neck when taking Asia anywhere.
Asia must have been relieved to be done because she willing let lil bro sit next to her in the dentist chair:)
Not a happy face

Side notes:
~Do not feed her Mac-n-Cheese right now she hates it but loves avocados.
~Cheese has taken place of her book in the morning as item she most wants on the bus-food is not allowed on the bus but....oh well.
~She had a seizure before bed a couple nights ago:( bummer, I need to keep an eye out for more.
~She also ripped out my earring yes, from my ear. It was a miracle it didnt tear through-be on guard at all times:)

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